Search Results for: GOLGA2

349 interactions involving GOLGA2 - golgin A2 found:

Interactant Symbol Name
Associated Pathways
Binding Drugs
Associated Diseases
ABHD17A abhydrolase domain containing 17A, depalmitoylase
ABLIM1 actin binding LIM protein 1
  • DCC mediated attractive signaling
ADAP1 ArfGAP with dual PH domains 1
  • Nuclear signaling by ERBB4
AFF4 AF4/FMR2 family member 4
  • Formation of RNA Pol II elongation complex
  • RNA Polymerase II Pre-transcription Events
  • RNA Polymerase II Transcription Elongation
ALKBH3 alkB homolog 3, alpha-ketoglutaratedependent dioxygenase
  • ALKBH3 mediated reversal of alkylation damage
  • Vitamin C
AMOTL2 angiomotin like 2
  • Signaling by Hippo
ANKRD11 ankyrin repeat domain 11
ANKRD36BP1 ankyrin repeat domain 36B pseudogene 1
APC APC regulator of WNT signaling pathway
  • Apoptotic cleavage of cellular proteins
  • Degradation of beta-catenin by the destruction complex
  • Beta-catenin phosphorylation cascade
  • Deactivation of the beta-catenin transactivating complex
  • Disassembly of the destruction complex and recruitment of AXIN to the membrane
  • Disassembly of the destruction complex and recruitment of AXIN to the membrane
  • Misspliced GSK3beta mutants stabilize beta-catenin
  • S33 mutants of beta-catenin aren't phosphorylated
  • S37 mutants of beta-catenin aren't phosphorylated
  • S45 mutants of beta-catenin aren't phosphorylated
  • T41 mutants of beta-catenin aren't phosphorylated
  • APC truncation mutants are not K63 polyubiquitinated
  • APC truncation mutants have impaired AXIN binding
  • AXIN missense mutants destabilize the destruction complex
  • Truncations of AMER1 destabilize the destruction complex
  • Ovarian tumor domain proteases
  • Familial adenomatous polyposis
  • Esophageal cancer
  • Gastric cancer
  • Cancer of the anal canal
  • Gallbladder cancer
ARID5A AT-rich interaction domain 5A
ARL16 ADP ribosylation factor like GTPase 16
ARL4A ADP ribosylation factor like GTPase 4A
ARNT2 aryl hydrocarbon receptor nuclear translocator 2
  • PPARA activates gene expression
  • Phase I - Functionalization of compounds
  • Endogenous sterols
  • Xenobiotics
  • Aryl hydrocarbon receptor signalling
ARPC3 actin related protein 2/3 complex subunit 3
  • Regulation of actin dynamics for phagocytic cup formation
  • Regulation of actin dynamics for phagocytic cup formation
  • EPHB-mediated forward signaling
  • RHO GTPases Activate WASPs and WAVEs
  • RHO GTPases Activate WASPs and WAVEs
  • Clathrin-mediated endocytosis
  • FCGR3A-mediated phagocytosis
  • FCGR3A-mediated phagocytosis
  • N-[2-(2-methyl-1H-indol-3-yl)ethyl]thiophene-2-carboxamide
  • (2S)-2-(3-bromophenyl)-3-(5-chloro-2-hydroxyphenyl)-1,3-thiazolidin-4-one
ATP6V1C2 ATPase H+ transporting V1 subunit C2
  • ROS and RNS production in phagocytes
  • Insulin receptor recycling
  • Transferrin endocytosis and recycling
  • Amino acids regulate mTORC1
  • Ion channel transport
ATP6V1D ATPase H+ transporting V1 subunit D
  • ROS and RNS production in phagocytes
  • Neutrophil degranulation
  • Insulin receptor recycling
  • Transferrin endocytosis and recycling
  • Amino acids regulate mTORC1
  • Ion channel transport
ATP6V1G1 ATPase H+ transporting V1 subunit G1
  • ROS and RNS production in phagocytes
  • Insulin receptor recycling
  • Transferrin endocytosis and recycling
  • Amino acids regulate mTORC1
  • Ion channel transport
ATXN7 ataxin 7
  • HATs acetylate histones
  • Ub-specific processing proteases
  • Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
AXIN1 axin 1
  • Degradation of beta-catenin by the destruction complex
  • Beta-catenin phosphorylation cascade
  • TCF dependent signaling in response to WNT
  • Degradation of AXIN
  • Disassembly of the destruction complex and recruitment of AXIN to the membrane
  • Disassembly of the destruction complex and recruitment of AXIN to the membrane
  • Misspliced GSK3beta mutants stabilize beta-catenin
  • S33 mutants of beta-catenin aren't phosphorylated
  • S37 mutants of beta-catenin aren't phosphorylated
  • S45 mutants of beta-catenin aren't phosphorylated
  • T41 mutants of beta-catenin aren't phosphorylated
  • APC truncation mutants have impaired AXIN binding
  • AXIN missense mutants destabilize the destruction complex
  • Truncations of AMER1 destabilize the destruction complex
  • Ub-specific processing proteases
  • RUNX1 regulates estrogen receptor mediated transcription
  • RUNX1 regulates transcription of genes involved in WNT signaling
  • Estrogen-dependent gene expression
  • 1,4-Dithiothreitol
  • Hepatocellular carcinoma
  • Caudal duplication anomaly
BAHD1 bromo adjacent homology domain containing 1
BARD1 BRCA1 associated RING domain 1
  • HDR through Single Strand Annealing (SSA)
  • HDR through Homologous Recombination (HRR)
  • UCH proteinases
  • Metalloprotease DUBs
  • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
  • Resolution of D-loop Structures through Holliday Junction Intermediates
  • Nonhomologous End-Joining (NHEJ)
  • Homologous DNA Pairing and Strand Exchange
  • Processing of DNA double-strand break ends
  • Presynaptic phase of homologous DNA pairing and strand exchange
  • Regulation of TP53 Activity through Phosphorylation
  • G2/M DNA damage checkpoint
BCAS2 BCAS2 pre-mRNA processing factor
  • mRNA Splicing - Major Pathway
BCL6 BCL6 transcription repressor
  • Interleukin-4 and Interleukin-13 signaling
  • TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
  • FOXO-mediated transcription of cell death genes
  • Hairy-cell leukemia
BCL6B BCL6B transcription repressor
BMS1P1 BMS1 pseudogene 1
BYSL bystin like
  • Major pathway of rRNA processing in the nucleolus and cytosol
C12orf50 chromosome 12 open reading frame 50
C1orf109 chromosome 1 open reading frame 109
C1orf35 chromosome 1 open reading frame 35
  • Neutrophil degranulation
C2CD6 C2 calcium dependent domain containing 6
C9orf16 chromosome 9 open reading frame 16
CBX8 chromobox 8
  • Oxidative Stress Induced Senescence
  • SUMOylation of DNA damage response and repair proteins
  • SUMOylation of transcription cofactors
  • SUMOylation of chromatin organization proteins
  • SUMOylation of RNA binding proteins
  • SUMOylation of DNA methylation proteins
  • RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
  • Regulation of PTEN gene transcription
  • Regulation of PTEN gene transcription
CBY2 chibby family member 2
CCAR1 cell division cycle and apoptosis regulator 1
  • mRNA Splicing - Major Pathway
CCDC146 coiled-coil domain containing 146
CCDC150 coiled-coil domain containing 150
CCDC17 coiled-coil domain containing 17
CCDC198 coiled-coil domain containing 198
CCDC70 coiled-coil domain containing 70
CCDC87 coiled-coil domain containing 87
CCDC92 coiled-coil domain containing 92
CCHCR1 coiled-coil alpha-helical rod protein 1
CCNC cyclin C
  • PPARA activates gene expression
  • NOTCH1 Intracellular Domain Regulates Transcription
  • Generic Transcription Pathway
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
  • Transcriptional regulation of white adipocyte differentiation
  • Transcriptional regulation of white adipocyte differentiation
CCNH cyclin H
  • Formation of RNA Pol II elongation complex
  • Formation of the Early Elongation Complex
  • Formation of HIV elongation complex in the absence of HIV Tat
  • Formation of the HIV-1 Early Elongation Complex
  • RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
  • HIV Transcription Initiation
  • RNA Polymerase II HIV Promoter Escape
  • Transcription of the HIV genome
  • Formation of HIV-1 elongation complex containing HIV-1 Tat
  • Tat-mediated elongation of the HIV-1 transcript
  • NoRC negatively regulates rRNA expression
  • Formation of Incision Complex in GG-NER
  • RNA Polymerase II Pre-transcription Events
  • Formation of TC-NER Pre-Incision Complex
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER)
  • Dual incision in TC-NER
  • Gap-filling DNA repair synthesis and ligation in TC-NER
  • TP53 Regulates Transcription of DNA Repair Genes
  • Cyclin E associated events during G1/S transition
  • Cyclin D associated events in G1
  • Cyclin A/B1/B2 associated events during G2/M transition
  • Cyclin A:Cdk2-associated events at S phase entry
  • mRNA Capping
  • RNA Polymerase I Transcription Initiation
  • RNA Polymerase I Promoter Escape
  • RNA Polymerase II Promoter Escape
  • RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
  • RNA Polymerase I Transcription Termination
  • RNA Polymerase II Transcription Initiation
  • RNA Polymerase II Transcription Elongation
  • RNA Polymerase II Transcription Initiation And Promoter Clearance
  • RNA Pol II CTD phosphorylation and interaction with CE
  • RUNX1 regulates transcription of genes involved in differentiation of HSCs
CDC20B cell division cycle 20B
CDC5L cell division cycle 5 like
  • mRNA Splicing - Major Pathway
CDC73 cell division cycle 73
  • Formation of RNA Pol II elongation complex
  • Formation of the beta-catenin:TCF transactivating complex
  • Hedgehog 'on' state
  • RNA Polymerase II Pre-transcription Events
  • RNA Polymerase II Transcription Elongation
  • E3 ubiquitin ligases ubiquitinate target proteins
  • Primary hyperparathyroidism; Familial hyperparathyroidism (HRPT)
CDCA7 cell division cycle associated 7
CDK1 cyclin dependent kinase 1
  • MAPK3 (ERK1) activation
  • E2F-enabled inhibition of pre-replication complex formation
  • Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1
  • Golgi Cisternae Pericentriolar Stack Reorganization
  • Phosphorylation of proteins involved in the G2/M transition by Cyclin A:Cdc2 complexes
  • APC/C:Cdc20 mediated degradation of Cyclin B
  • Cdc20:Phospho-APC/C mediated degradation of Cyclin A
  • Regulation of APC/C activators between G1/S and early anaphase
  • Phosphorylation of the APC/C
  • Phosphorylation of Emi1
  • Condensation of Prophase Chromosomes
  • MASTL Facilitates Mitotic Progression
  • Resolution of Sister Chromatid Cohesion
  • Condensation of Prometaphase Chromosomes
  • Regulation of PLK1 Activity at G2/M Transition
  • Activation of NIMA Kinases NEK9, NEK6, NEK7
  • Initiation of Nuclear Envelope (NE) Reformation
  • Nuclear Pore Complex (NPC) Disassembly
  • Loss of Nlp from mitotic centrosomes
  • Recruitment of mitotic centrosome proteins and complexes
  • Loss of proteins required for interphase microtubule organization from the centrosome
  • Recruitment of NuMA to mitotic centrosomes
  • Depolymerisation of the Nuclear Lamina
  • Anchoring of the basal body to the plasma membrane
  • MAPK6/MAPK4 signaling
  • Ovarian tumor domain proteases
  • TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
  • Regulation of TP53 Degradation
  • Mitotic Prophase
  • G1/S-Specific Transcription
  • Cyclin A/B1/B2 associated events during G2/M transition
  • Cyclin A/B1/B2 associated events during G2/M transition
  • G2/M DNA replication checkpoint
  • Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
  • The role of GTSE1 in G2/M progression after G2 checkpoint
  • AURKA Activation by TPX2
  • Transcriptional regulation by RUNX2
  • Indirubin-3'-Monoxime
  • Olomoucine
  • Hymenialdisine
  • SU9516
  • Alvocidib
  • Alsterpaullone
  • AT7519
CDK18 cyclin dependent kinase 18
CDKL3 cyclin dependent kinase like 3
CENPP centromere protein P
  • Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
  • Separation of Sister Chromatids
  • Resolution of Sister Chromatid Cohesion
  • RHO GTPases Activate Formins
  • Deposition of new CENPA-containing nucleosomes at the centromere
  • Mitotic Prometaphase
  • EML4 and NUDC in mitotic spindle formation
CEP55 centrosomal protein 55
CEP57L1 centrosomal protein 57 like 1
CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2
  • Mitochondrial protein import
CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3
  • Mitochondrial protein import
  • Cristae formation
CINP cyclin dependent kinase 2 interacting protein
CKB creatine kinase B
  • Creatine metabolism
  • Creatine
  • Phosphocreatine
COG6 component of oligomeric golgi complex 6
  • COPI-mediated anterograde transport
  • Intra-Golgi traffic
  • Retrograde transport at the Trans-Golgi-Network
CORO1A coronin 1A
  • Prevention of phagosomal-lysosomal fusion
CRMP1 collapsin response mediator protein 1
  • CRMPs in Sema3A signaling
CSPP1 centrosome and spindle pole associated protein 1
CSTF2T cleavage stimulation factor subunit 2 tau variant
  • mRNA Splicing - Major Pathway
  • mRNA 3'-end processing
  • RNA Polymerase II Transcription Termination
  • Processing of Intronless Pre-mRNAs
CUL5 cullin 5
  • Vif-mediated degradation of APOBEC3G
  • Downregulation of ERBB2 signaling
  • Neddylation
  • Antigen processing: Ubiquitination & Proteasome degradation
CYB5R2 cytochrome b5 reductase 2
  • Erythrocytes take up carbon dioxide and release oxygen
DAXX death domain associated protein
  • SUMOylation of transcription cofactors
  • Regulation of TP53 Degradation
  • HCMV Early Events
DCTN4 dynactin subunit 4
  • MHC class II antigen presentation
  • HSP90 chaperone cycle for steroid hormone receptors (SHR)
  • COPI-mediated anterograde transport
  • COPI-independent Golgi-to-ER retrograde traffic
DCX doublecortin
  • Neurofascin interactions
  • Lissencephaly (LIS); Miller-Dieker syndrome (MDLS)
DDX6 DEAD-box helicase 6
  • mRNA decay by 5' to 3' exoribonuclease
  • D-tartaric acid
DEUP1 deuterosome assembly protein 1
DGCR6 DiGeorge syndrome critical region gene 6
DLGAP5 DLG associated protein 5
  • NOTCH3 Intracellular Domain Regulates Transcription
DLX6-AS1 DLX6 antisense RNA 1
DMTN dematin actin binding protein
  • Miscellaneous transport and binding events
DNM2 dynamin 2
  • Toll Like Receptor 4 (TLR4) Cascade
  • Retrograde neurotrophin signalling
  • Gap junction degradation
  • Formation of annular gap junctions
  • NOSTRIN mediated eNOS trafficking
  • MHC class II antigen presentation
  • Lysosome Vesicle Biogenesis
  • Golgi Associated Vesicle Biogenesis
  • Recycling pathway of L1
  • Clathrin-mediated endocytosis
  • NGF-stimulated transcription
  • Centronuclear myopathy
  • Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
DOLPP1 dolichyldiphosphatase 1
  • Synthesis of Dolichyl-phosphate
DTX2 deltex E3 ubiquitin ligase 2
  • Activated NOTCH1 Transmits Signal to the Nucleus
  • Activated NOTCH1 Transmits Signal to the Nucleus
DVL2 dishevelled segment polarity protein 2
  • TCF dependent signaling in response to WNT
  • WNT mediated activation of DVL
  • Signaling by Hippo
  • PCP/CE pathway
  • PCP/CE pathway
  • Asymmetric localization of PCP proteins
  • Degradation of DVL
  • Disassembly of the destruction complex and recruitment of AXIN to the membrane
  • Disassembly of the destruction complex and recruitment of AXIN to the membrane
  • WNT5A-dependent internalization of FZD4
  • Negative regulation of TCF-dependent signaling by DVL-interacting proteins
  • RHO GTPases Activate Formins
  • Cargo recognition for clathrin-mediated endocytosis
  • Clathrin-mediated endocytosis
  • WNT5:FZD7-mediated leishmania damping
  • WNT5:FZD7-mediated leishmania damping
EAF2 ELL associated factor 2
  • Formation of RNA Pol II elongation complex
  • RNA Polymerase II Pre-transcription Events
  • RNA Polymerase II Transcription Elongation
EFHC1 EF-hand domain containing 1
  • Idiopathic generalied epilepsies (IGEs), including: Childhood absence epilepsy (CAE); Juvenile absence epilepsy (JAE); Juvenile myoclonic epilepsy (JME); Epilepsy with generalized tonic-clonic seizures alone
EGR2 early growth response 2
  • Transcriptional regulation of white adipocyte differentiation
  • Activation of anterior HOX genes in hindbrain development during early embryogenesis
  • NGF-stimulated transcription
  • NGF-stimulated transcription
  • EGR2 and SOX10-mediated initiation of Schwann cell myelination
  • EGR2 and SOX10-mediated initiation of Schwann cell myelination
  • Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
EIF3G eukaryotic translation initiation factor 3 subunit G
  • L13a-mediated translational silencing of Ceruloplasmin expression
  • Translation initiation complex formation
  • Formation of a pool of free 40S subunits
  • Formation of the ternary complex, and subsequently, the 43S complex
  • Ribosomal scanning and start codon recognition
  • GTP hydrolysis and joining of the 60S ribosomal subunit
EIF4A2 eukaryotic translation initiation factor 4A2
  • ISG15 antiviral mechanism
  • L13a-mediated translational silencing of Ceruloplasmin expression
  • Deadenylation of mRNA
  • Translation initiation complex formation
  • Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
  • Ribosomal scanning and start codon recognition
  • GTP hydrolysis and joining of the 60S ribosomal subunit
EP300 E1A binding protein p300
  • Regulation of gene expression by Hypoxia-inducible Factor
  • RORA activates gene expression
  • RORA activates gene expression
  • Polo-like kinase mediated events
  • Pre-NOTCH Transcription and Translation
  • Pre-NOTCH Transcription and Translation
  • PPARA activates gene expression
  • Formation of the beta-catenin:TCF transactivating complex
  • Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
  • NOTCH1 Intracellular Domain Regulates Transcription
  • NOTCH1 Intracellular Domain Regulates Transcription
  • NOTCH2 intracellular domain regulates transcription
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
  • LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production
  • HATs acetylate histones
  • Attenuation phase
  • Transcriptional regulation of white adipocyte differentiation
  • Transcriptional regulation of white adipocyte differentiation
  • SUMOylation of transcription cofactors
  • Circadian Clock
  • Circadian Clock
  • B-WICH complex positively regulates rRNA expression
  • Activation of anterior HOX genes in hindbrain development during early embryogenesis
  • CD209 (DC-SIGN) signaling
  • Metalloprotease DUBs
  • Formation of TC-NER Pre-Incision Complex
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER)
  • Dual incision in TC-NER
  • Gap-filling DNA repair synthesis and ligation in TC-NER
  • TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
  • Regulation of TP53 Activity through Acetylation
  • Regulation of TP53 Activity through Methylation
  • PI5P Regulates TP53 Acetylation
  • Activation of the TFAP2 (AP-2) family of transcription factors
  • RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
  • RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
  • RUNX3 regulates NOTCH signaling
  • RUNX3 regulates NOTCH signaling
  • Regulation of RUNX3 expression and activity
  • RUNX3 regulates p14-ARF
  • NOTCH3 Intracellular Domain Regulates Transcription
  • NOTCH3 Intracellular Domain Regulates Transcription
  • NOTCH4 Intracellular Domain Regulates Transcription
  • Estrogen-dependent gene expression
  • NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
  • NGF-stimulated transcription
  • NGF-stimulated transcription
  • TRAF3-dependent IRF activation pathway
  • TRAF6 mediated IRF7 activation
  • FOXO-mediated transcription of cell death genes
  • Transcriptional regulation of granulopoiesis
  • Transcriptional regulation of granulopoiesis
  • Regulation of FOXO transcriptional activity by acetylation
  • Regulation of FOXO transcriptional activity by acetylation
  • Rubinstein-Taybi syndrome
ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit
  • Formation of RNA Pol II elongation complex
  • Formation of the Early Elongation Complex
  • Formation of HIV elongation complex in the absence of HIV Tat
  • Formation of the HIV-1 Early Elongation Complex
  • RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
  • HIV Transcription Initiation
  • RNA Polymerase II HIV Promoter Escape
  • Transcription of the HIV genome
  • Formation of HIV-1 elongation complex containing HIV-1 Tat
  • Tat-mediated elongation of the HIV-1 transcript
  • NoRC negatively regulates rRNA expression
  • Formation of Incision Complex in GG-NER
  • Dual Incision in GG-NER
  • RNA Polymerase II Pre-transcription Events
  • Formation of TC-NER Pre-Incision Complex
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER)
  • Dual incision in TC-NER
  • Gap-filling DNA repair synthesis and ligation in TC-NER
  • TP53 Regulates Transcription of DNA Repair Genes
  • mRNA Capping
  • RNA Polymerase I Transcription Initiation
  • RNA Polymerase I Promoter Escape
  • RNA Polymerase II Promoter Escape
  • RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
  • RNA Polymerase I Transcription Termination
  • RNA Polymerase II Transcription Initiation
  • RNA Polymerase II Transcription Elongation
  • RNA Polymerase II Transcription Initiation And Promoter Clearance
  • RNA Pol II CTD phosphorylation and interaction with CE
  • Disorders of nucleotide excision repair, including: Xeroderma pigmentosum (XP); Cockayne syndrome (CS); UV-sensitive syndrome (UVS); Trichothiodystrophy (TTD); Cerebro-oculo-facio-skeletal syndrome (COFS); XFE progeroid syndrome
EXOSC5 exosome component 5
  • ATF4 activates genes in response to endoplasmic reticulum stress
  • mRNA decay by 3' to 5' exoribonuclease
  • Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA
  • Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA
  • KSRP (KHSRP) binds and destabilizes mRNA
  • Major pathway of rRNA processing in the nucleolus and cytosol
FAM110A family with sequence similarity 110 member A
FAM124B family with sequence similarity 124 member B
FAM126B family with sequence similarity 126 member B
FAM161A FAM161 centrosomal protein A
  • Retinitis pigmentosa (RP)
FAM184A family with sequence similarity 184 member A
FAM193B family with sequence similarity 193 member B
FAM207A family with sequence similarity 207 member A
FAM214A family with sequence similarity 214 member A
FAM50B family with sequence similarity 50 member B
FAM90A1 family with sequence similarity 90 member A1
FANCG FA complementation group G
  • Fanconi Anemia Pathway
  • Fanconi anemia
FBF1 Fas binding factor 1
  • Anchoring of the basal body to the plasma membrane
FBXL18 F-box and leucine rich repeat protein 18
FBXO28 F-box protein 28
FIP1L1 factor interacting with PAPOLA and CPSF1
  • Transport of Mature mRNA Derived from an Intronless Transcript
  • mRNA Splicing - Major Pathway
  • mRNA 3'-end processing
  • RNA Polymerase II Transcription Termination
  • Processing of Intronless Pre-mRNAs
  • Signaling by cytosolic PDGFRA and PDGFRB fusion proteins
FNDC11 fibronectin type III domain containing 11
GATA1 GATA binding protein 1
  • RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
  • RUNX1 regulates transcription of genes involved in differentiation of HSCs
  • Factors involved in megakaryocyte development and platelet production
  • Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
  • Congenital dyserythropoietic anemias (CDAs)
GATA2 GATA binding protein 2
  • RUNX1 regulates transcription of genes involved in differentiation of HSCs
  • Transcriptional regulation of granulopoiesis
  • Factors involved in megakaryocyte development and platelet production
GATAD2B GATA zinc finger domain containing 2B
  • HDACs deacetylate histones
  • ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
  • Regulation of TP53 Activity through Acetylation
  • RNA Polymerase I Transcription Initiation
  • Regulation of PTEN gene transcription
  • Regulation of PTEN gene transcription
GCC1 GRIP and coiled-coil domain containing 1
  • Retrograde transport at the Trans-Golgi-Network
GEM GTP binding protein overexpressed in skeletal muscle
GFAP glial fibrillary acidic protein
  • Nuclear signaling by ERBB4
  • Chaperone Mediated Autophagy
  • Alexander disease
GGA2 golgi associated, gamma adaptin ear containing, ARF binding protein 2
  • TBC/RABGAPs
  • Amyloid fiber formation
GLE1 GLE1 RNA export mediator
  • Transport of Mature mRNA derived from an Intron-Containing Transcript
  • Lethal arthrogryposis with anterior horn cell disease
  • Lethal congenital contractural syndrome (LCCS)
GLYCTK glycerate kinase
  • Fructose catabolism
GMCL1 germ cell-less 1, spermatogenesis associated
GNG5 G protein subunit gamma 5
  • Activation of G protein gated Potassium channels
  • Glucagon signaling in metabolic regulation
  • G-protein activation
  • Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
  • Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
  • ADP signalling through P2Y purinoceptor 12
  • G beta:gamma signalling through PI3Kgamma
  • Prostacyclin signalling through prostacyclin receptor
  • Prostacyclin signalling through prostacyclin receptor
  • Adrenaline,noradrenaline inhibits insulin secretion
  • Adrenaline,noradrenaline inhibits insulin secretion
  • Ca2+ pathway
  • Ca2+ pathway
  • G alpha (q) signalling events
  • G alpha (12/13) signalling events
  • G beta:gamma signalling through PLC beta
  • G alpha (s) signalling events
  • ADP signalling through P2Y purinoceptor 1
  • ADP signalling through P2Y purinoceptor 1
  • G alpha (i) signalling events
  • G alpha (z) signalling events
  • Glucagon-type ligand receptors
  • Thromboxane signalling through TP receptor
  • Vasopressin regulates renal water homeostasis via Aquaporins
  • Thrombin signalling through proteinase activated receptors (PARs)
  • Thrombin signalling through proteinase activated receptors (PARs)
  • Presynaptic function of Kainate receptors
  • Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
  • G beta:gamma signalling through BTK
  • G beta:gamma signalling through CDC42
  • Extra-nuclear estrogen signaling
  • ADORA2B mediated anti-inflammatory cytokines production
  • Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits
GORASP1 golgi reassembly stacking protein 1
  • Golgi Cisternae Pericentriolar Stack Reorganization
  • Golgi Cisternae Pericentriolar Stack Reorganization
  • COPII-mediated vesicle transport
  • COPI-mediated anterograde transport
GORASP2 golgi reassembly stacking protein 2
  • Golgi Cisternae Pericentriolar Stack Reorganization
GPANK1 G-patch domain and ankyrin repeats 1
GPKOW G-patch domain and KOW motifs
  • mRNA Splicing - Major Pathway
GPS2 G protein pathway suppressor 2
  • PPARA activates gene expression
  • HDACs deacetylate histones
  • Loss of MECP2 binding ability to the NCoR/SMRT complex
  • Regulation of MECP2 expression and activity
  • NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
  • HCMV Early Events
GRAP2 GRB2 related adaptor protein 2
  • Signaling by SCF-KIT
  • Generation of second messenger molecules
  • DAP12 signaling
  • FCERI mediated MAPK activation
  • FCERI mediated Ca+2 mobilization
  • FCERI mediated Ca+2 mobilization
  • CD28 co-stimulation
GSE1 Gse1 coiled-coil protein
GTPBP10 GTP binding protein 10
GZMA granzyme A
GZMK granzyme K
HAUS1 HAUS augmin like complex subunit 1
  • Regulation of PLK1 Activity at G2/M Transition
  • Loss of Nlp from mitotic centrosomes
  • Recruitment of mitotic centrosome proteins and complexes
  • Loss of proteins required for interphase microtubule organization from the centrosome
  • Recruitment of NuMA to mitotic centrosomes
  • Anchoring of the basal body to the plasma membrane
  • AURKA Activation by TPX2
HDAC4 histone deacetylase 4
  • NOTCH1 Intracellular Domain Regulates Transcription
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
  • Notch-HLH transcription pathway
  • SUMOylation of intracellular receptors
  • SUMOylation of chromatin organization proteins
  • RUNX2 regulates chondrocyte maturation
  • RUNX3 regulates p14-ARF
  • Zinc
  • Belinostat
  • Romidepsin
  • Panobinostat
  • N-hydroxy-5-[(3-phenyl-5,6-dihydroimidazo[1,2-a]pyrazin-7(8H)-yl)carbonyl]thiophene-2-carboxamide
  • 2,2,2-TRIFLUORO-1-{5-[(3-PHENYL-5,6-DIHYDROIMIDAZO[1,2-A]PYRAZIN-7(8H)-YL)CARBONYL]THIOPHEN-2-YL}ETHANE-1,1-DIOL
  • Brachydacytly-mental retardation syndrome and Smith-Magenis syndrome
HGS hepatocyte growth factor-regulated tyrosine kinase substrate
  • EGFR downregulation
  • Lysosome Vesicle Biogenesis
  • Ub-specific processing proteases
  • Negative regulation of MET activity
  • Cargo recognition for clathrin-mediated endocytosis
  • Clathrin-mediated endocytosis
  • InlB-mediated entry of Listeria monocytogenes into host cell
  • Endosomal Sorting Complex Required For Transport (ESCRT)
  • Inhibition of membrane repair
  • Prevention of phagosomal-lysosomal fusion
  • Citric Acid
HOXB9 homeobox B9
HTRA1 HtrA serine peptidase 1
  • Degradation of the extracellular matrix
  • Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
HYLS1 HYLS1 centriolar and ciliogenesis associated
IFT20 intraflagellar transport 20
  • Intraflagellar transport
  • Intraflagellar transport
IFT27 intraflagellar transport 27
  • Intraflagellar transport
  • Intraflagellar transport
IHO1 interactor of HORMAD1 1
IKZF3 IKAROS family zinc finger 3
INPP5J inositol polyphosphate-5-phosphatase J
  • Synthesis of PIPs at the plasma membrane
  • Synthesis of IP2, IP, and Ins in the cytosol
  • Synthesis of IP3 and IP4 in the cytosol
IQCE IQ motif containing E
  • Activation of SMO
ISCU iron-sulfur cluster assembly enzyme
ITPKB inositol-trisphosphate 3-kinase B
  • Synthesis of IP3 and IP4 in the cytosol
ITSN2 intersectin 2
  • Cargo recognition for clathrin-mediated endocytosis
  • Clathrin-mediated endocytosis
KANK2 KN motif and ankyrin repeat domains 2
KANSL1 KAT8 regulatory NSL complex subunit 1
  • HATs acetylate histones
KAT5 lysine acetyltransferase 5
  • Formation of the beta-catenin:TCF transactivating complex
  • Formation of the beta-catenin:TCF transactivating complex
  • DNA Damage/Telomere Stress Induced Senescence
  • HATs acetylate histones
  • HDR through Single Strand Annealing (SSA)
  • HDR through Homologous Recombination (HRR)
  • Sensing of DNA Double Strand Breaks
  • Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
  • Resolution of D-loop Structures through Holliday Junction Intermediates
  • Nonhomologous End-Joining (NHEJ)
  • Homologous DNA Pairing and Strand Exchange
  • Processing of DNA double-strand break ends
  • Presynaptic phase of homologous DNA pairing and strand exchange
  • Regulation of TP53 Activity through Phosphorylation
  • G2/M DNA damage checkpoint
  • Estrogen-dependent gene expression
  • Coenzyme A
  • S-Acetyl-Cysteine
KDM1A lysine demethylase 1A
  • HDACs deacetylate histones
  • HDMs demethylate histones
  • Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
  • Regulation of PTEN gene transcription
  • Estrogen-dependent gene expression
  • NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
  • Factors involved in megakaryocyte development and platelet production
KIAA1217 KIAA1217
KIFC3 kinesin family member C3
KRT18 keratin 18
  • Keratinization
  • Formation of the cornified envelope
KRT6A keratin 6A
  • Keratinization
  • Formation of the cornified envelope
  • Zinc
  • Pachyonychia congenita, including: Jadassohn-Lewandowsky syndrome; Jackson-Lawler syndrome ; Steatocystoma multiplex
KRT6B keratin 6B
  • Keratinization
  • Formation of the cornified envelope
  • Pachyonychia congenita, including: Jadassohn-Lewandowsky syndrome; Jackson-Lawler syndrome ; Steatocystoma multiplex
KRT6C keratin 6C
  • Keratinization
  • Formation of the cornified envelope
LASP1 LIM and SH3 protein 1
LATS1 large tumor suppressor kinase 1
  • Signaling by Hippo
LCOR ligand dependent nuclear receptor corepressor
LCP2 lymphocyte cytosolic protein 2
  • GPVI-mediated activation cascade
  • Generation of second messenger molecules
  • Generation of second messenger molecules
  • DAP12 signaling
  • FCERI mediated MAPK activation
  • FCERI mediated Ca+2 mobilization
  • FCERI mediated Ca+2 mobilization
LENG1 leukocyte receptor cluster member 1
LGALS3 galectin 3
  • Neutrophil degranulation
  • Advanced glycosylation endproduct receptor signaling
  • RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
  • RUNX2 regulates genes involved in differentiation of myeloid cells
  • 2,3,5,6-Tetrafluoro-4-Methoxy-Benzamide
  • Lactose
LHX4 LIM homeobox 4
  • Regulation of expression of SLITs and ROBOs
  • Pituitary Dwarfism (PD); Isolated growth hormone deficiency (IGHD); Short Stature and Pituitary Defects (SSPD); Insulin-like growth factor 1 deficiency (IGFD)
LIMS2 LIM zinc finger domain containing 2
  • Cell-extracellular matrix interactions
LIN7A lin-7 homolog A, crumbs cell polarity complex component
  • Dopamine Neurotransmitter Release Cycle
  • Neurexins and neuroligins
  • Assembly and cell surface presentation of NMDA receptors
LINGO1 leucine rich repeat and Ig domain containing 1
  • Axonal growth inhibition (RHOA activation)
LMO1 LIM domain only 1
  • RUNX1 regulates transcription of genes involved in differentiation of HSCs
LMO2 LIM domain only 2
  • RUNX1 regulates transcription of genes involved in differentiation of HSCs
  • Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
LMO3 LIM domain only 3
LMO4 LIM domain only 4
LYPLA1 lysophospholipase 1
  • eNOS activation
LYSMD1 LysM domain containing 1
MAB21L2 mab-21 like 2
MAGOH mago homolog, exon junction complex subunit
  • Transport of Mature mRNA derived from an Intron-Containing Transcript
  • mRNA Splicing - Major Pathway
  • mRNA 3'-end processing
  • RNA Polymerase II Transcription Termination
  • Regulation of expression of SLITs and ROBOs
  • Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
MAGOHB mago homolog B, exon junction complex subunit
  • Transport of Mature mRNA derived from an Intron-Containing Transcript
  • mRNA Splicing - Major Pathway
  • mRNA 3'-end processing
  • RNA Polymerase II Transcription Termination
  • Regulation of expression of SLITs and ROBOs
  • Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
MBD3 methyl-CpG binding domain protein 3
  • HDACs deacetylate histones
  • ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
  • Regulation of TP53 Activity through Acetylation
  • RNA Polymerase I Transcription Initiation
  • Regulation of PTEN gene transcription
  • Regulation of PTEN gene transcription
MCM10 minichromosome maintenance 10 replication initiation factor
  • Activation of ATR in response to replication stress
  • Activation of the pre-replicative complex
MCM7 minichromosome maintenance complex component 7
  • Activation of ATR in response to replication stress
  • Unwinding of DNA
  • Assembly of the pre-replicative complex
  • Orc1 removal from chromatin
  • Activation of the pre-replicative complex
  • Switching of origins to a post-replicative state
MFAP1 microfibril associated protein 1
  • Molecules associated with elastic fibres
MID2 midline 2
MNAT1 MNAT1 component of CDK activating kinase
  • Formation of RNA Pol II elongation complex
  • Formation of the Early Elongation Complex
  • Formation of HIV elongation complex in the absence of HIV Tat
  • Formation of the HIV-1 Early Elongation Complex
  • RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
  • HIV Transcription Initiation
  • RNA Polymerase II HIV Promoter Escape
  • Transcription of the HIV genome
  • Formation of HIV-1 elongation complex containing HIV-1 Tat
  • Tat-mediated elongation of the HIV-1 transcript
  • NoRC negatively regulates rRNA expression
  • Formation of Incision Complex in GG-NER
  • RNA Polymerase II Pre-transcription Events
  • Formation of TC-NER Pre-Incision Complex
  • Transcription-Coupled Nucleotide Excision Repair (TC-NER)
  • Dual incision in TC-NER
  • Gap-filling DNA repair synthesis and ligation in TC-NER
  • TP53 Regulates Transcription of DNA Repair Genes
  • Cyclin E associated events during G1/S transition
  • Cyclin D associated events in G1
  • Cyclin A/B1/B2 associated events during G2/M transition
  • Cyclin A:Cdk2-associated events at S phase entry
  • mRNA Capping
  • RNA Polymerase I Transcription Initiation
  • RNA Polymerase I Promoter Escape
  • RNA Polymerase II Promoter Escape
  • RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
  • RNA Polymerase I Transcription Termination
  • RNA Polymerase II Transcription Initiation
  • RNA Polymerase II Transcription Elongation
  • RNA Polymerase II Transcription Initiation And Promoter Clearance
  • RNA Pol II CTD phosphorylation and interaction with CE
  • RUNX1 regulates transcription of genes involved in differentiation of HSCs
MORF4L1 mortality factor 4 like 1
  • HATs acetylate histones
MORF4L2 mortality factor 4 like 2
  • HATs acetylate histones
MORN3 MORN repeat containing 3
MOS MOS proto-oncogene, serine/threonine kinase
MSRB3 methionine sulfoxide reductase B3
  • Protein repair
MTFR2 mitochondrial fission regulator 2
MVP major vault protein
  • Neutrophil degranulation
MYEF2 myelin expression factor 2
NCF2 neutrophil cytosolic factor 2
  • ROS and RNS production in phagocytes
  • Cross-presentation of particulate exogenous antigens (phagosomes)
  • Detoxification of Reactive Oxygen Species
  • VEGFA-VEGFR2 Pathway
  • RHO GTPases Activate NADPH Oxidases
  • Dextromethorphan
  • Chronic granulomatous disease, including the following four diseases: X-linked CGD (gp91 phox CGD); p22phox deficiency (p22phox CGD); p47phox deficiency (p47phox CGD); p67phox deficiency (p67phox CGD)
NDE1 nudE neurodevelopment protein 1
  • Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
  • Separation of Sister Chromatids
  • Resolution of Sister Chromatid Cohesion
  • Regulation of PLK1 Activity at G2/M Transition
  • Loss of Nlp from mitotic centrosomes
  • Recruitment of mitotic centrosome proteins and complexes
  • Loss of proteins required for interphase microtubule organization from the centrosome
  • Recruitment of NuMA to mitotic centrosomes
  • Anchoring of the basal body to the plasma membrane
  • RHO GTPases Activate Formins
  • Mitotic Prometaphase
  • AURKA Activation by TPX2
  • EML4 and NUDC in mitotic spindle formation
NDEL1 nudE neurodevelopment protein 1 like 1
  • Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
  • Separation of Sister Chromatids
  • Resolution of Sister Chromatid Cohesion
  • RHO GTPases Activate Formins
  • Mitotic Prometaphase
  • EML4 and NUDC in mitotic spindle formation
NDN necdin, MAGE family member
  • Interleukin-4 and Interleukin-13 signaling
  • Prader-Willi and Angelman syndromes, including: Angelman syndrome (AS); Prader-Willi syndrome (PWS)
NDUFA5 NADH:ubiquinone oxidoreductase subunit A5
  • Respiratory electron transport
  • Complex I biogenesis
  • NADH
NEBL nebulette
NECAB2 N-terminal EF-hand calcium binding protein 2
NEFL neurofilament light
  • Unblocking of NMDA receptors, glutamate binding and activation
  • Unblocking of NMDA receptors, glutamate binding and activation
  • Ras activation upon Ca2+ influx through NMDA receptor
  • RAF/MAP kinase cascade
  • Assembly and cell surface presentation of NMDA receptors
  • Negative regulation of NMDA receptor-mediated neuronal transmission
  • Long-term potentiation
  • Charcot-Marie-Tooth disease (CMT); Hereditary motor and sensory neuropathy; Peroneal muscular atrophy
NME7 NME/NM23 family member 7
  • Recruitment of mitotic centrosome proteins and complexes
  • Recruitment of NuMA to mitotic centrosomes
NMRK1 nicotinamide riboside kinase 1
  • Nicotinate metabolism
NOS3 nitric oxide synthase 3
  • ROS and RNS production in phagocytes
  • Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
  • eNOS activation
  • NOSTRIN mediated eNOS trafficking
  • NOSIP mediated eNOS trafficking
  • Nitric oxide stimulates guanylate cyclase
  • VEGFR2 mediated vascular permeability
  • Extra-nuclear estrogen signaling
  • L-Arginine
  • L-Citrulline
  • Sapropterin
  • Miconazole
  • N,N-dimethylarginine
  • L-N(Omega)-Nitroarginine-2,4-L-Diaminobutyric Amide
  • L-2-Amino-4-(Guanidinooxy)Butyric Acid
  • 3-Bromo-7-Nitroindazole
  • N-{(4s)-4-Amino-5-[(2-Aminoethyl)Amino]Pentyl}-N'-Nitroguanidine
  • N-(3-(Aminomethyl)Benzyl)Acetamidine
  • 1,2,4-Triazole-Carboxamidine
  • L-N(Omega)-Nitroarginine-(4r)-Amino-L-Proline Amide
  • S,S'-(1,4-Phenylene-Bis(1,2-Ethanediyl))Bis-Isothiourea
  • 7-Nitroindazole
  • S-Ethylisothiourea
  • 2-Aminothiazoline
  • Se-Ethyl-Isoselenourea
  • 2,4-Diamino-6-Phenyl-5,6,7,8,-Tetrahydropteridine
  • N1,N14-Bis((S-Methyl)Isothioureido)Tetradecane
  • Cacodylic acid
  • 7-Nitroindazole-2-Carboxamidine
  • 6-Nitroindazole
  • N-Omega-Hydroxy-L-Arginine
  • N5-Iminoethyl-L-Ornithine
  • 5,6-Cyclic-Tetrahydropteridine
  • S-Ethyl-N-Phenyl-Isothiourea
  • S,S'-(1,3-Phenylene-Bis(1,2-Ethanediyl))Bis-Isothiourea
  • 6S-5,6,7,8-Tetrahydrobiopterin
  • S-(Dimethylarsenic)Cysteine
  • L-Homoarginine
  • S-Isopropyl-Isothiourea
  • Nitroarginine
  • 5-Nitroindazole
  • N-(Chlorophenyl)-N'-Hydroxyguanidine
  • Apremilast
  • (3S,5E)-3-propyl-3,4-dihydrothieno[2,3-f][1,4]oxazepin-5(2H)-imine
  • 5-{4-[(3,5-DIFLUOROBENZYL)AMINO]PHENYL}-6-ETHYLPYRIMIDINE-2,4-DIAMINE
  • ETHYL 4-[(4-METHYLPYRIDIN-2-YL)AMINO]PIPERIDINE-1-CARBOXYLATE
  • N-{(3S,4S)-4-[(6-AMINO-4-METHYLPYRIDIN-2-YL)METHYL]PYRROLIDIN-3-YL}-N'-(4-CHLOROBENZYL)ETHANE-1,2-DIAMINE
  • N-{(3R,4S)-4-[(6-amino-4-methylpyridin-2-yl)methyl]pyrrolidin-3-yl}-N'-(3-chlorobenzyl)ethane-1,2-diamine
NOTCH1 notch receptor 1
  • Pre-NOTCH Processing in the Endoplasmic Reticulum
  • Pre-NOTCH Transcription and Translation
  • Pre-NOTCH Transcription and Translation
  • Pre-NOTCH Processing in Golgi
  • Pre-NOTCH Processing in Golgi
  • Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
  • NOTCH1 Intracellular Domain Regulates Transcription
  • NOTCH1 Intracellular Domain Regulates Transcription
  • Activated NOTCH1 Transmits Signal to the Nucleus
  • Activated NOTCH1 Transmits Signal to the Nucleus
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants
  • Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling
  • Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant
  • Constitutive Signaling by NOTCH1 HD Domain Mutants
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
  • Notch-HLH transcription pathway
  • Defective LFNG causes SCDO3
  • RUNX3 regulates NOTCH signaling
  • RUNX3 regulates NOTCH signaling
  • NOTCH3 Intracellular Domain Regulates Transcription
  • NOTCH3 Intracellular Domain Regulates Transcription
  • NOTCH4 Intracellular Domain Regulates Transcription
  • Bicuspid aortic valve
  • Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
NTAQ1 N-terminal glutamine amidase 1
NUDT21 nudix hydrolase 21
  • mRNA Splicing - Major Pathway
  • mRNA 3'-end processing
  • RNA Polymerase II Transcription Termination
  • Processing of Intronless Pre-mRNAs
NXT2 nuclear transport factor 2 like export factor 2
ODF2 outer dense fiber of sperm tails 2
  • Regulation of PLK1 Activity at G2/M Transition
  • Loss of Nlp from mitotic centrosomes
  • Recruitment of mitotic centrosome proteins and complexes
  • Loss of proteins required for interphase microtubule organization from the centrosome
  • Recruitment of NuMA to mitotic centrosomes
  • Anchoring of the basal body to the plasma membrane
  • AURKA Activation by TPX2
ORC1 origin recognition complex subunit 1
  • E2F-enabled inhibition of pre-replication complex formation
  • Activation of ATR in response to replication stress
  • Assembly of the ORC complex at the origin of replication
  • CDC6 association with the ORC:origin complex
  • CDT1 association with the CDC6:ORC:origin complex
  • Assembly of the pre-replicative complex
  • Orc1 removal from chromatin
  • Activation of the pre-replicative complex
  • G1/S-Specific Transcription
  • Patella dysplasias, including: Small patella syndrome (SPS); Nail-patella syndrome; Ear-patella-short statute syndrome
PARD6B par-6 family cell polarity regulator beta
  • Tight junction interactions
PATL1 PAT1 homolog 1, processing body mRNA decay factor
  • mRNA decay by 5' to 3' exoribonuclease
  • mRNA decay by 5' to 3' exoribonuclease
PCM1 pericentriolar material 1
  • Regulation of PLK1 Activity at G2/M Transition
  • Loss of Nlp from mitotic centrosomes
  • Recruitment of mitotic centrosome proteins and complexes
  • Loss of proteins required for interphase microtubule organization from the centrosome
  • Recruitment of NuMA to mitotic centrosomes
  • Anchoring of the basal body to the plasma membrane
  • AURKA Activation by TPX2
PIAS2 protein inhibitor of activated STAT 2
  • Activation of anterior HOX genes in hindbrain development during early embryogenesis
PID1 phosphotyrosine interaction domain containing 1
PIK3R2 phosphoinositide-3-kinase regulatory subunit 2
  • PI3K Cascade
  • IRS-mediated signalling
  • GPVI-mediated activation cascade
  • PIP3 activates AKT signaling
  • Interleukin-7 signaling
  • Interleukin-7 signaling
  • Signaling by SCF-KIT
  • Synthesis of PIPs at the plasma membrane
  • Downstream signal transduction
  • Rho GTPase cycle
  • PI3K/AKT activation
  • Downstream TCR signaling
  • Role of phospholipids in phagocytosis
  • Tie2 Signaling
  • Constitutive Signaling by Aberrant PI3K in Cancer
  • DAP12 signaling
  • Role of LAT2/NTAL/LAB on calcium mobilization
  • Nephrin family interactions
  • Costimulation by the CD28 family
  • CD28 dependent PI3K/Akt signaling
  • G alpha (q) signalling events
  • VEGFA-VEGFR2 Pathway
  • VEGFA-VEGFR2 Pathway
  • Interleukin-3, Interleukin-5 and GM-CSF signaling
  • PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
  • RET signaling
  • Extra-nuclear estrogen signaling
  • Interleukin receptor SHC signaling
  • Regulation of signaling by CBL
  • Regulation of signaling by CBL
  • Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
  • Signaling by PDGFRA extracellular domain mutants
  • Isoprenaline
  • SF1126
PIMREG PICALM interacting mitotic regulator
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
  • ISG15 antiviral mechanism
  • RHO GTPases Activate NADPH Oxidases
  • Regulation of TP53 Activity through Phosphorylation
  • PI5P Regulates TP53 Acetylation
  • Negative regulators of DDX58/IFIH1 signaling
  • Beta-(2-Naphthyl)-Alanine
  • 3,6,9,12,15,18-HEXAOXAICOSANE
PITX1 paired like homeodomain 1
  • Congenital clubfoot; Congenital talipes equinovarus
PKN1 protein kinase N1
  • RHO GTPases activate PKNs
  • Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
PKP4 plakophilin 4
  • Keratinization
  • Formation of the cornified envelope
PLAAT5 phospholipase A and acyltransferase 5
  • Acyl chain remodelling of PE
POLDIP3 DNA polymerase delta interacting protein 3
  • Transport of Mature mRNA derived from an Intron-Containing Transcript
  • mRNA 3'-end processing
  • RNA Polymerase II Transcription Termination
POM121 POM121 transmembrane nucleoporin
  • ISG15 antiviral mechanism
  • Transport of the SLBP independent Mature mRNA
  • Transport of the SLBP Dependant Mature mRNA
  • Transport of Mature mRNA Derived from an Intronless Transcript
  • Transport of Mature mRNA derived from an Intron-Containing Transcript
  • Rev-mediated nuclear export of HIV RNA
  • Transport of Ribonucleoproteins into the Host Nucleus
  • NS1 Mediated Effects on Host Pathways
  • Viral Messenger RNA Synthesis
  • NEP/NS2 Interacts with the Cellular Export Machinery
  • Regulation of Glucokinase by Glucokinase Regulatory Protein
  • Nuclear import of Rev protein
  • Vpr-mediated nuclear import of PICs
  • snRNP Assembly
  • SUMOylation of DNA damage response and repair proteins
  • SUMOylation of ubiquitinylation proteins
  • Nuclear Pore Complex (NPC) Disassembly
  • Regulation of HSF1-mediated heat shock response
  • SUMOylation of SUMOylation proteins
  • SUMOylation of chromatin organization proteins
  • SUMOylation of RNA binding proteins
  • SUMOylation of DNA replication proteins
  • SUMOylation of DNA replication proteins
  • Transcriptional regulation by small RNAs
  • Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
  • tRNA processing in the nucleus
  • HCMV Early Events
  • HCMV Late Events
  • Postmitotic nuclear pore complex (NPC) reformation
  • Postmitotic nuclear pore complex (NPC) reformation
PPP1R16B protein phosphatase 1 regulatory subunit 16B
PPP1R18 protein phosphatase 1 regulatory subunit 18
PPP2CA protein phosphatase 2 catalytic subunit alpha
  • Inhibition of replication initiation of damaged DNA by RB1/E2F1
  • Spry regulation of FGF signaling
  • Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
  • Integration of energy metabolism
  • PP2A-mediated dephosphorylation of key metabolic factors
  • DARPP-32 events
  • Degradation of beta-catenin by the destruction complex
  • Beta-catenin phosphorylation cascade
  • ERK/MAPK targets
  • ERKs are inactivated
  • MASTL Facilitates Mitotic Progression
  • Separation of Sister Chromatids
  • Resolution of Sister Chromatid Cohesion
  • Initiation of Nuclear Envelope (NE) Reformation
  • CTLA4 inhibitory signaling
  • Platelet sensitization by LDL
  • Disassembly of the destruction complex and recruitment of AXIN to the membrane
  • Disassembly of the destruction complex and recruitment of AXIN to the membrane
  • Misspliced GSK3beta mutants stabilize beta-catenin
  • S33 mutants of beta-catenin aren't phosphorylated
  • S37 mutants of beta-catenin aren't phosphorylated
  • S45 mutants of beta-catenin aren't phosphorylated
  • T41 mutants of beta-catenin aren't phosphorylated
  • APC truncation mutants have impaired AXIN binding
  • AXIN missense mutants destabilize the destruction complex
  • Truncations of AMER1 destabilize the destruction complex
  • RHO GTPases Activate Formins
  • RAF activation
  • Negative regulation of MAPK pathway
  • Regulation of TP53 Degradation
  • PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
  • Mitotic Prometaphase
  • Cyclin D associated events in G1
  • Cyclin A/B1/B2 associated events during G2/M transition
  • Regulation of glycolysis by fructose 2,6-bisphosphate metabolism
  • EML4 and NUDC in mitotic spindle formation
  • Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
  • Vitamin E
  • 2,6,8-Trimethyl-3-Amino-9-Benzyl-9-Methoxynonanoic Acid
  • (2S,3S,4E,6E,8S,9S)-3-amino-9-methoxy-2,6,8-trimethyl-10-phenyldeca-4,6-dienoic acid
PQBP1 polyglutamine binding protein 1
  • mRNA Splicing - Major Pathway
  • Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
  • Non-syndromic X-linked mental retardation
PRKAA1 protein kinase AMP-activated catalytic subunit alpha 1
  • Macroautophagy
  • Energy dependent regulation of mTOR by LKB1-AMPK
  • TP53 Regulates Metabolic Genes
  • Regulation of TP53 Activity through Phosphorylation
  • Activation of AMPK downstream of NMDARs
  • Adenosine monophosphate
  • ATP
  • Phenformin
  • Acetylsalicylic acid
PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2
  • Translocation of SLC2A4 (GLUT4) to the plasma membrane
  • Macroautophagy
  • AMPK inhibits chREBP transcriptional activation activity
  • AMPK inhibits chREBP transcriptional activation activity
  • Carnitine metabolism
  • Activation of PPARGC1A (PGC-1alpha) by phosphorylation
  • Energy dependent regulation of mTOR by LKB1-AMPK
  • TP53 Regulates Metabolic Genes
  • Regulation of TP53 Activity through Phosphorylation
  • Lipophagy
  • Activation of AMPK downstream of NMDARs
  • Adenosine monophosphate
  • Acetylsalicylic acid
PRPF31 pre-mRNA processing factor 31
  • mRNA Splicing - Major Pathway
  • Retinitis pigmentosa (RP)
PSMA1 proteasome 20S subunit alpha 1
  • Activation of NF-kappaB in B cells
  • Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
  • ER-Phagosome pathway
  • Cross-presentation of soluble exogenous antigens (endosomes)
  • Autodegradation of Cdh1 by Cdh1:APC/C
  • SCF-beta-TrCP mediated degradation of Emi1
  • APC/C:Cdc20 mediated degradation of Securin
  • APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
  • Cdc20:Phospho-APC/C mediated degradation of Cyclin A
  • Vpu mediated degradation of CD4
  • Vif-mediated degradation of APOBEC3G
  • SCF(Skp2)-mediated degradation of p27/p21
  • Degradation of beta-catenin by the destruction complex
  • Downstream TCR signaling
  • Regulation of activated PAK-2p34 by proteasome mediated degradation
  • Separation of Sister Chromatids
  • FCERI mediated NF-kB activation
  • Autodegradation of the E3 ubiquitin ligase COP1
  • Regulation of ornithine decarboxylase (ODC)
  • ABC-family proteins mediated transport
  • AUF1 (hnRNP D0) binds and destabilizes mRNA
  • Asymmetric localization of PCP proteins
  • Degradation of AXIN
  • Degradation of DVL
  • Hedgehog ligand biogenesis
  • Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
  • Dectin-1 mediated noncanonical NF-kB signaling
  • CLEC7A (Dectin-1) signaling
  • Degradation of GLI1 by the proteasome
  • Degradation of GLI2 by the proteasome
  • GLI3 is processed to GLI3R by the proteasome
  • Hedgehog 'on' state
  • Regulation of RAS by GAPs
  • TNFR2 non-canonical NF-kB pathway
  • NIK - noncanonical NF-kB signaling
  • Defective CFTR causes cystic fibrosis
  • MAPK6/MAPK4 signaling
  • UCH proteinases
  • Ub-specific processing proteases
  • CDT1 association with the CDC6:ORC:origin complex
  • Orc1 removal from chromatin
  • CDK-mediated phosphorylation and removal of Cdc6
  • G2/M Checkpoints
  • Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
  • Ubiquitin-dependent degradation of Cyclin D
  • The role of GTSE1 in G2/M progression after G2 checkpoint
  • FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
  • RUNX1 regulates transcription of genes involved in differentiation of HSCs
  • Regulation of RUNX2 expression and activity
  • Regulation of RUNX2 expression and activity
  • Regulation of RUNX3 expression and activity
  • Regulation of PTEN stability and activity
  • Neddylation
  • Regulation of expression of SLITs and ROBOs
  • Interleukin-1 signaling
  • Negative regulation of NOTCH4 signaling
  • Antigen processing: Ubiquitination & Proteasome degradation
  • (3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE
PSMA4 proteasome 20S subunit alpha 4
  • Activation of NF-kappaB in B cells
  • Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
  • ER-Phagosome pathway
  • Cross-presentation of soluble exogenous antigens (endosomes)
  • Autodegradation of Cdh1 by Cdh1:APC/C
  • SCF-beta-TrCP mediated degradation of Emi1
  • APC/C:Cdc20 mediated degradation of Securin
  • APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
  • Cdc20:Phospho-APC/C mediated degradation of Cyclin A
  • Vpu mediated degradation of CD4
  • Vif-mediated degradation of APOBEC3G
  • SCF(Skp2)-mediated degradation of p27/p21
  • Degradation of beta-catenin by the destruction complex
  • Downstream TCR signaling
  • Regulation of activated PAK-2p34 by proteasome mediated degradation
  • Separation of Sister Chromatids
  • FCERI mediated NF-kB activation
  • Autodegradation of the E3 ubiquitin ligase COP1
  • Regulation of ornithine decarboxylase (ODC)
  • ABC-family proteins mediated transport
  • AUF1 (hnRNP D0) binds and destabilizes mRNA
  • Asymmetric localization of PCP proteins
  • Degradation of AXIN
  • Degradation of DVL
  • Hedgehog ligand biogenesis
  • Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
  • Dectin-1 mediated noncanonical NF-kB signaling
  • CLEC7A (Dectin-1) signaling
  • Degradation of GLI1 by the proteasome
  • Degradation of GLI2 by the proteasome
  • GLI3 is processed to GLI3R by the proteasome
  • Hedgehog 'on' state
  • Regulation of RAS by GAPs
  • TNFR2 non-canonical NF-kB pathway
  • NIK - noncanonical NF-kB signaling
  • Defective CFTR causes cystic fibrosis
  • MAPK6/MAPK4 signaling
  • UCH proteinases
  • Ub-specific processing proteases
  • CDT1 association with the CDC6:ORC:origin complex
  • Orc1 removal from chromatin
  • CDK-mediated phosphorylation and removal of Cdc6
  • G2/M Checkpoints
  • Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
  • Ubiquitin-dependent degradation of Cyclin D
  • The role of GTSE1 in G2/M progression after G2 checkpoint
  • FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
  • RUNX1 regulates transcription of genes involved in differentiation of HSCs
  • Regulation of RUNX2 expression and activity
  • Regulation of RUNX2 expression and activity
  • Regulation of RUNX3 expression and activity
  • Regulation of PTEN stability and activity
  • Neddylation
  • Regulation of expression of SLITs and ROBOs
  • Interleukin-1 signaling
  • Negative regulation of NOTCH4 signaling
  • Antigen processing: Ubiquitination & Proteasome degradation
  • (3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE
PTBP2 polypyrimidine tract binding protein 2
PTPN11 protein tyrosine phosphatase non-receptor type 11
  • Interleukin-6 signaling
  • PI3K Cascade
  • MAPK3 (ERK1) activation
  • MAPK1 (ERK2) activation
  • GPVI-mediated activation cascade
  • Prolactin receptor signaling
  • PIP3 activates AKT signaling
  • Spry regulation of FGF signaling
  • Signaling by SCF-KIT
  • GAB1 signalosome
  • Downstream signal transduction
  • PECAM1 interactions
  • Tie2 Signaling
  • Constitutive Signaling by Aberrant PI3K in Cancer
  • Signaling by Leptin
  • Costimulation by the CD28 family
  • CTLA4 inhibitory signaling
  • PD-1 signaling
  • Signal regulatory protein family interactions
  • Netrin mediated repulsion signals
  • Platelet sensitization by LDL
  • Interleukin-3, Interleukin-5 and GM-CSF signaling
  • Interleukin-3, Interleukin-5 and GM-CSF signaling
  • PI-3K cascade:FGFR1
  • FRS-mediated FGFR1 signaling
  • PI-3K cascade:FGFR2
  • FRS-mediated FGFR2 signaling
  • FRS-mediated FGFR3 signaling
  • PI-3K cascade:FGFR3
  • FRS-mediated FGFR4 signaling
  • PI-3K cascade:FGFR4
  • Negative regulation of FGFR1 signaling
  • Negative regulation of FGFR2 signaling
  • Negative regulation of FGFR3 signaling
  • Negative regulation of FGFR4 signaling
  • PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
  • Regulation of IFNG signaling
  • RET signaling
  • Interleukin-20 family signaling
  • MET activates PTPN11
  • Regulation of RUNX1 Expression and Activity
  • Interleukin-37 signaling
  • Activated NTRK2 signals through FRS2 and FRS3
  • Interferon alpha/beta signaling
  • Regulation of IFNA signaling
  • Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon
  • FLT3 Signaling
  • STAT5 Activation
  • Dodecane-Trimethylamine
  • Noonan syndrome and related disorders, including: Noonan syndrome (NS); Leopard syndrome (LS); Noonan syndrome-like with loose anagen hair (NS/LAH); CBL-mutation associated syndrome (CBL); Neurofibromatosis type 1 (NF1); Neurofibromatosis type 2 (NF2); Neurofibromatosis-Noonan syndrome (NFNS); Legius syndrome; Cardiofaciocutaneous syndrome (CFCS); Costello syndrome (CS)
  • Metachondromatosis
RAB1A RAB1A, member RAS oncogene family
  • Golgi Cisternae Pericentriolar Stack Reorganization
  • Golgi Cisternae Pericentriolar Stack Reorganization
  • COPII-mediated vesicle transport
  • COPI-mediated anterograde transport
  • COPI-dependent Golgi-to-ER retrograde traffic
  • RAB geranylgeranylation
  • RAB GEFs exchange GTP for GDP on RABs
RAB1B RAB1B, member RAS oncogene family
  • Golgi Cisternae Pericentriolar Stack Reorganization
  • Golgi Cisternae Pericentriolar Stack Reorganization
  • COPII-mediated vesicle transport
  • COPI-mediated anterograde transport
  • COPI-dependent Golgi-to-ER retrograde traffic
  • RAB geranylgeranylation
  • RAB GEFs exchange GTP for GDP on RABs
RAB2A RAB2A, member RAS oncogene family
  • Golgi Cisternae Pericentriolar Stack Reorganization
  • RAB geranylgeranylation
RAB2B RAB2B, member RAS oncogene family
  • RAB geranylgeranylation
RAB33B RAB33B, member RAS oncogene family
  • Intra-Golgi traffic
  • TBC/RABGAPs
  • RAB geranylgeranylation
RAB39A RAB39A, member RAS oncogene family
  • Intra-Golgi traffic
  • RAB geranylgeranylation
  • RAB GEFs exchange GTP for GDP on RABs
RAB39B RAB39B, member RAS oncogene family
  • RAB geranylgeranylation
  • RAB GEFs exchange GTP for GDP on RABs
  • Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
RAB6A RAB6A, member RAS oncogene family
  • Pre-NOTCH Processing in Golgi
  • Neutrophil degranulation
  • COPI-independent Golgi-to-ER retrograde traffic
  • Retrograde transport at the Trans-Golgi-Network
  • TBC/RABGAPs
  • RAB geranylgeranylation
  • RAB GEFs exchange GTP for GDP on RABs
RBL1 RB transcriptional corepressor like 1
  • Transcription of E2F targets under negative control by DREAM complex
  • Transcription of E2F targets under negative control by DREAM complex
  • Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1
  • G0 and Early G1
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
  • TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
  • G1/S-Specific Transcription
  • Cyclin D associated events in G1
RBM17 RNA binding motif protein 17
  • mRNA Splicing - Major Pathway
RBM39 RNA binding motif protein 39
RBM41 RNA binding motif protein 41
RCOR3 REST corepressor 3
RGS8 regulator of G protein signaling 8
  • G alpha (i) signalling events
  • G alpha (i) signalling events
RHNO1 RAD9-HUS1-RAD1 interacting nuclear orphan 1
  • HDR through Single Strand Annealing (SSA)
  • Processing of DNA double-strand break ends
  • Presynaptic phase of homologous DNA pairing and strand exchange
  • Regulation of TP53 Activity through Phosphorylation
  • G2/M DNA damage checkpoint
RIBC1 RIB43A domain with coiled-coils 1
RITA1 RBPJ interacting and tubulin associated 1
RNF135 ring finger protein 135
  • DDX58/IFIH1-mediated induction of interferon-alpha/beta
  • Ovarian tumor domain proteases
  • TRAF3-dependent IRF activation pathway
  • TRAF6 mediated IRF7 activation
  • TRAF6 mediated NF-kB activation
  • TRAF6 mediated NF-kB activation
  • NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
  • Negative regulators of DDX58/IFIH1 signaling
  • Negative regulators of DDX58/IFIH1 signaling
RNF213 ring finger protein 213
  • Suppression of apoptosis
  • Antigen processing: Ubiquitination & Proteasome degradation
RNF214 ring finger protein 214
RNF6 ring finger protein 6
  • Antigen processing: Ubiquitination & Proteasome degradation
RSPH14 radial spoke head 14 homolog
RSRC2 arginine and serine rich coiled-coil 2
RTP5 receptor transporter protein 5 (putative)
  • Olfactory Signaling Pathway
RUSC2 RUN and SH3 domain containing 2
RXRB retinoid X receptor beta
  • PPARA activates gene expression
  • Nuclear Receptor transcription pathway
  • Signaling by Retinoic Acid
  • NR1H2 & NR1H3 regulate gene expression linked to lipogenesis
  • NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
  • NR1H2 & NR1H3 regulate gene expression to limit cholesterol uptake
  • NR1H2 & NR1H3 regulate gene expression linked to triglyceride lipolysis in adipose
  • NR1H2 & NR1H3 regulate gene expression to control bile acid homeostasis
  • NR1H2 & NR1H3 regulate gene expression linked to gluconeogenesis
  • Adapalene
  • Bexarotene
  • Rosiglitazone
  • Acitretin
  • Alitretinoin
  • Tretinoin
  • Tazarotene
  • Etretinate
  • Bezafibrate
  • 6-[1-(3,5,5,8,8-Pentamethyl-5,6,7,8-Tetrahydronaphthalen-2-Yl)Cyclopropyl]Pyridine-3-Carboxylic Acid
  • Phthalic Acid
  • Doconexent
  • N-(2,2,2-TRIFLUOROETHYL)-N-{4-[2,2,2-TRIFLUORO-1-HYDROXY-1-(TRIFLUOROMETHYL)ETHYL]PHENYL}BENZENESULFONAMIDE
  • N-(TERT-BUTYL)-3,5-DIMETHYL-N'-[(5-METHYL-2,3-DIHYDRO-1,4-BENZODIOXIN-6-YL)CARBONYL]BENZOHYDRAZIDE
  • (2E,4E)-11-METHOXY-3,7,11-TRIMETHYLDODECA-2,4-DIENOIC ACID
SAMD4A sterile alpha motif domain containing 4A
SAP30BP SAP30 binding protein
  • NoRC negatively regulates rRNA expression
SCAF8 SR-related CTD associated factor 8
SCEL sciellin
SCNM1 sodium channel modifier 1
SECISBP2 SECIS binding protein 2
  • Selenocysteine synthesis
SELENOV selenoprotein V
SFI1 SFI1 centrin binding protein
  • Regulation of PLK1 Activity at G2/M Transition
  • Loss of Nlp from mitotic centrosomes
  • Recruitment of mitotic centrosome proteins and complexes
  • Loss of proteins required for interphase microtubule organization from the centrosome
  • Recruitment of NuMA to mitotic centrosomes
  • Anchoring of the basal body to the plasma membrane
  • AURKA Activation by TPX2
SH2D3C SH2 domain containing 3C
SH2D4A SH2 domain containing 4A
SH3GLB2 SH3 domain containing GRB2 like, endophilin B2
SH3RF2 SH3 domain containing ring finger 2
SHC3 SHC adaptor protein 3
  • Signalling to RAS
  • Signalling to RAS
  • RAF/MAP kinase cascade
  • RET signaling
SLU7 SLU7 homolog, splicing factor
  • Transport of Mature mRNA derived from an Intron-Containing Transcript
  • mRNA Splicing - Major Pathway
  • mRNA 3'-end processing
  • RNA Polymerase II Transcription Termination
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
  • RMTs methylate histone arginines
  • RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
  • RMTs methylate histone arginines
  • RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
  • Phenethyl Isothiocyanate
SMCP sperm mitochondria associated cysteine rich protein
SNAP47 synaptosome associated protein 47
SNF8 SNF8 subunit of ESCRT-II
  • Endosomal Sorting Complex Required For Transport (ESCRT)
  • HCMV Late Events
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
  • SLBP independent Processing of Histone Pre-mRNAs
  • snRNP Assembly
  • mRNA Splicing - Major Pathway
  • mRNA Splicing - Minor Pathway
  • RNA Polymerase II Transcription Termination
  • SLBP Dependent Processing of Replication-Dependent Histone Pre-mRNAs
SNRPB2 small nuclear ribonucleoprotein polypeptide B2
  • mRNA Splicing - Major Pathway
SNRPC small nuclear ribonucleoprotein polypeptide C
  • mRNA Splicing - Major Pathway
SNTA1 syntrophin alpha 1
  • Long QT syndrome, including: Romano-Ward syndrome; Jervell and Lange-Nielsen syndrome (JLNS)
SNW1 SNW domain containing 1
  • Pre-NOTCH Transcription and Translation
  • Pre-NOTCH Transcription and Translation
  • Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
  • NOTCH1 Intracellular Domain Regulates Transcription
  • NOTCH1 Intracellular Domain Regulates Transcription
  • SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
  • Constitutive Signaling by NOTCH1 PEST Domain Mutants
  • Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
  • Notch-HLH transcription pathway
  • mRNA Splicing - Major Pathway
  • RUNX3 regulates NOTCH signaling
  • RUNX3 regulates NOTCH signaling
  • NOTCH3 Intracellular Domain Regulates Transcription
  • NOTCH3 Intracellular Domain Regulates Transcription
  • NOTCH4 Intracellular Domain Regulates Transcription
SPATA2 spermatogenesis associated 2
SPATA22 spermatogenesis associated 22
SRSF2 serine and arginine rich splicing factor 2
  • Transport of Mature mRNA derived from an Intron-Containing Transcript
  • mRNA Splicing - Major Pathway
  • mRNA Splicing - Minor Pathway
  • mRNA 3'-end processing
  • RNA Polymerase II Transcription Termination
SSX2IP SSX family member 2 interacting protein
STAMBPL1 STAM binding protein like 1
  • Metalloprotease DUBs
STK25 serine/threonine kinase 25
STK26 serine/threonine kinase 26
  • Apoptotic cleavage of cellular proteins
  • [4-({4-[(5-CYCLOPROPYL-1H-PYRAZOL-3-YL)AMINO]QUINAZOLIN-2-YL}IMINO)CYCLOHEXA-2,5-DIEN-1-YL]ACETONITRILE
STN1 STN1 subunit of CST complex
  • Telomere C-strand synthesis initiation
SUPT5H SPT5 homolog, DSIF elongation factor subunit
  • Formation of RNA Pol II elongation complex
  • Formation of the Early Elongation Complex
  • Formation of HIV elongation complex in the absence of HIV Tat
  • Formation of the HIV-1 Early Elongation Complex
  • RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
  • Formation of HIV-1 elongation complex containing HIV-1 Tat
  • Formation of HIV-1 elongation complex containing HIV-1 Tat
  • Pausing and recovery of Tat-mediated HIV elongation
  • Abortive elongation of HIV-1 transcript in the absence of Tat
  • Tat-mediated HIV elongation arrest and recovery
  • Tat-mediated elongation of the HIV-1 transcript
  • HIV elongation arrest and recovery
  • Pausing and recovery of HIV elongation
  • RNA Polymerase II Pre-transcription Events
  • TP53 Regulates Transcription of DNA Repair Genes
  • RNA polymerase II transcribes snRNA genes
  • mRNA Capping
  • RNA Polymerase II Transcription Elongation
  • RNA Pol II CTD phosphorylation and interaction with CE
SYT6 synaptotagmin 6
TBC1D22B TBC1 domain family member 22B
TBP TATA-box binding protein
  • HIV Transcription Initiation
  • RNA Polymerase II HIV Promoter Escape
  • Transcription of the HIV genome
  • SIRT1 negatively regulates rRNA expression
  • NoRC negatively regulates rRNA expression
  • B-WICH complex positively regulates rRNA expression
  • RNA Polymerase II Pre-transcription Events
  • Regulation of TP53 Activity through Phosphorylation
  • RNA polymerase II transcribes snRNA genes
  • RNA polymerase II transcribes snRNA genes
  • RNA Polymerase I Transcription Initiation
  • RNA Polymerase I Transcription Initiation
  • RNA Polymerase I Promoter Escape
  • RNA Polymerase II Promoter Escape
  • RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
  • RNA Polymerase I Transcription Termination
  • RNA Polymerase III Abortive And Retractive Initiation
  • RNA Polymerase II Transcription Initiation
  • RNA Polymerase II Transcription Initiation And Promoter Clearance
  • RNA Polymerase III Transcription Initiation From Type 1 Promoter
  • RNA Polymerase III Transcription Initiation From Type 1 Promoter
  • RNA Polymerase III Transcription Initiation From Type 2 Promoter
  • RNA Polymerase III Transcription Initiation From Type 2 Promoter
  • RNA Polymerase III Transcription Initiation From Type 3 Promoter
  • RNA Polymerase III Transcription Initiation From Type 3 Promoter
  • Estrogen-dependent gene expression
  • Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
TCEA2 transcription elongation factor A2
TCEANC transcription elongation factor A N-terminal and central domain containing
TCF19 transcription factor 19
TCL1A T cell leukemia/lymphoma 1A
TDP2 tyrosyl-DNA phosphodiesterase 2
  • Nonhomologous End-Joining (NHEJ)
TEAD4 TEA domain transcription factor 4
  • YAP1- and WWTR1 (TAZ)-stimulated gene expression
  • RUNX3 regulates YAP1-mediated transcription
TEX9 testis expressed 9
TFAP4 transcription factor AP-4
TFIP11 tuftelin interacting protein 11
  • mRNA Splicing - Major Pathway
THAP7 THAP domain containing 7
THYN1 thymocyte nuclear protein 1
TLE5 TLE family member 5, transcriptional modulator
  • Repression of WNT target genes
TMED2 transmembrane p24 trafficking protein 2
  • Pre-NOTCH Processing in Golgi
  • COPII-mediated vesicle transport
  • Cargo concentration in the ER
  • COPI-mediated anterograde transport
  • COPI-dependent Golgi-to-ER retrograde traffic
TPM1 tropomyosin 1
  • Striated Muscle Contraction
  • Smooth Muscle Contraction
  • Artenimol
  • Phenethyl Isothiocyanate
  • Hypertrophic cardiomyopathy (HCM)
  • Dilated cardiomyopathy (DCM)
TPX2 TPX2 microtubule nucleation factor
  • Regulation of TP53 Activity through Phosphorylation
  • AURKA Activation by TPX2
TRAF1 TNF receptor associated factor 1
  • Regulation of TNFR1 signaling
  • TNFR1-induced NFkappaB signaling pathway
TRAF3IP2 TRAF3 interacting protein 2
TRAF4 TNF receptor associated factor 4
TRAF5 TNF receptor associated factor 5
TRIM29 tripartite motif containing 29
  • Interferon gamma signaling
TRIM42 tripartite motif containing 42
TSC22D4 TSC22 domain family member 4
TSSC4 tumor suppressing subtransferable candidate 4
TSSK3 testis specific serine kinase 3
TTC23 tetratricopeptide repeat domain 23
TTC25 tetratricopeptide repeat domain 25
TTC9C tetratricopeptide repeat domain 9C
TUBGCP4 tubulin gamma complex associated protein 4
  • Recruitment of mitotic centrosome proteins and complexes
  • Recruitment of NuMA to mitotic centrosomes
TXLNA taxilin alpha
  • Other interleukin signaling
UBE2H ubiquitin conjugating enzyme E2 H
  • Synthesis of active ubiquitin: roles of E1 and E2 enzymes
  • Antigen processing: Ubiquitination & Proteasome degradation
UBE2I ubiquitin conjugating enzyme E2 I
  • Meiotic synapsis
  • Vitamin D (calciferol) metabolism
  • SUMO is transferred from E1 to E2 (UBE2I, UBC9)
  • SUMO is transferred from E1 to E2 (UBE2I, UBC9)
  • SUMOylation of DNA damage response and repair proteins
  • SUMO E3 ligases SUMOylate target proteins
  • SUMOylation of transcription factors
  • SUMOylation of transcription factors
  • SUMOylation of ubiquitinylation proteins
  • SUMOylation of transcription cofactors
  • SUMOylation of transcription cofactors
  • SUMOylation of SUMOylation proteins
  • SUMOylation of intracellular receptors
  • SUMOylation of intracellular receptors
  • SUMOylation of chromatin organization proteins
  • SUMOylation of chromatin organization proteins
  • SUMOylation of RNA binding proteins
  • SUMOylation of DNA replication proteins
  • SUMOylation of DNA replication proteins
  • SUMOylation of DNA methylation proteins
  • SUMOylation of DNA methylation proteins
  • SUMOylation of immune response proteins
  • Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
  • Processing of DNA double-strand break ends
  • Formation of Incision Complex in GG-NER
  • Negative regulation of activity of TFAP2 (AP-2) family transcription factors
  • Negative regulation of activity of TFAP2 (AP-2) family transcription factors
  • Postmitotic nuclear pore complex (NPC) reformation
UBE2U ubiquitin conjugating enzyme E2 U
  • Antigen processing: Ubiquitination & Proteasome degradation
UBE3C ubiquitin protein ligase E3C
  • Antigen processing: Ubiquitination & Proteasome degradation
USO1 USO1 vesicle transport factor
  • Golgi Cisternae Pericentriolar Stack Reorganization
  • COPII-mediated vesicle transport
  • COPI-mediated anterograde transport
USP2 ubiquitin specific peptidase 2
  • TNFR1-induced proapoptotic signaling
  • Regulation of TNFR1 signaling
  • TNFR1-induced NFkappaB signaling pathway
  • Ub-specific processing proteases
  • Regulation of TP53 Degradation
UTP14C UTP14C small subunit processome component
  • rRNA modification in the nucleus and cytosol
  • Major pathway of rRNA processing in the nucleolus and cytosol
VPS28 VPS28 subunit of ESCRT-I
  • Budding and maturation of HIV virion
  • Membrane binding and targetting of GAG proteins
  • Endosomal Sorting Complex Required For Transport (ESCRT)
  • HCMV Late Events
  • Late endosomal microautophagy
VPS37C VPS37C subunit of ESCRT-I
  • Budding and maturation of HIV virion
  • Membrane binding and targetting of GAG proteins
  • Endosomal Sorting Complex Required For Transport (ESCRT)
  • HCMV Late Events
  • Late endosomal microautophagy
WASHC3 WASH complex subunit 3
WT1 WT1 transcription factor
  • Nephrotic syndrome and focal segmental glomerulosclerosis
  • 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
XIAP X-linked inhibitor of apoptosis
  • Activation of caspases through apoptosome-mediated cleavage
  • SMAC (DIABLO) binds to IAPs
  • SMAC (DIABLO) binds to IAPs
  • SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
  • SMAC(DIABLO)-mediated dissociation of IAP:caspase complexes
  • SMAC, XIAP-regulated apoptotic response
  • Deactivation of the beta-catenin transactivating complex
  • RIPK1-mediated regulated necrosis
  • Regulation of TNFR1 signaling
  • TNFR1-induced NFkappaB signaling pathway
  • Regulation of necroptotic cell death
  • Regulation of PTEN localization
  • Regulation of PTEN stability and activity
  • Regulation of the apoptosome activity
  • 1-[3,3-Dimethyl-2-(2-Methylamino-Propionylamino)-Butyryl]-Pyrrolidine-2-Carboxylic Acid(1,2,3,4-Tetrahydro-Naphthalen-1-Yl)-Amide
  • Dequalinium
  • N-METHYLALANYL-3-METHYLVALYL-4-PHENOXY-N-(1,2,3,4-TETRAHYDRONAPHTHALEN-1-YL)PROLINAMIDE
  • Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
YJU2 YJU2 splicing factor homolog
YTHDC1 YTH domain containing 1
ZBTB16 zinc finger and BTB domain containing 16
  • Neddylation
  • Antigen processing: Ubiquitination & Proteasome degradation
  • Skeletal defects, genital hypoplasia, and mental retardation
  • Acute myeloid leukemia (AML)
ZER1 zyg-11 related cell cycle regulator
ZFC3H1 zinc finger C3H1-type containing
ZFP2 ZFP2 zinc finger protein
  • Generic Transcription Pathway
ZFYVE26 zinc finger FYVE-type containing 26
  • Hereditary spastic paraplegia (SPG)
ZG16B zymogen granule protein 16B
ZGPAT zinc finger CCCH-type and G-patch domain containing
ZMAT1 zinc finger matrin-type 1
ZMAT2 zinc finger matrin-type 2
ZNF124 zinc finger protein 124
  • Generic Transcription Pathway
ZNF250 zinc finger protein 250
  • Generic Transcription Pathway
ZNF410 zinc finger protein 410
ZNF414 zinc finger protein 414
ZNF417 zinc finger protein 417
  • Generic Transcription Pathway
ZNF488 zinc finger protein 488
ZNF572 zinc finger protein 572
ZNF581 zinc finger protein 581
ZNF587 zinc finger protein 587
  • Generic Transcription Pathway
ZNF594 zinc finger protein 594
ZNF688 zinc finger protein 688
  • Generic Transcription Pathway
ZNF774 zinc finger protein 774
  • Generic Transcription Pathway