|
APEX1 |
apurinic/apyrimidinic endodeoxyribonuclease 1 |
- Displacement of DNA glycosylase by APEX1
- POLB-Dependent Long Patch Base Excision Repair
- Resolution of AP sites via the multiple-nucleotide patch replacement pathway
- PCNA-Dependent Long Patch Base Excision Repair
- Abasic sugar-phosphate removal via the single-nucleotide replacement pathway
- Resolution of Abasic Sites (AP sites)
|
|
|
|
ARAF |
A-Raf proto-oncogene, serine/threonine kinase |
- RAF activation
- MAP2K and MAPK activation
- Negative regulation of MAPK pathway
- Signaling by moderate kinase activity BRAF mutants
- Signaling by high-kinase activity BRAF mutants
- Signaling by BRAF and RAF fusions
- Paradoxical activation of RAF signaling by kinase inactive BRAF
- Signaling downstream of RAS mutants
- Signaling by RAF1 mutants
- Signaling by MRAS-complex mutants
|
|
- 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)
|
|
ATF3 |
activating transcription factor 3 |
- ATF4 activates genes in response to endoplasmic reticulum stress
- Response of EIF2AK4 (GCN2) to amino acid deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
- Response of EIF2AK1 (HRI) to heme deficiency
|
|
|
|
ATM |
ATM serine/threonine kinase |
- DNA Damage/Telomere Stress Induced Senescence
- Regulation of HSF1-mediated heat shock response
- Autodegradation of the E3 ubiquitin ligase COP1
- 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
- TP53 Regulates Transcription of DNA Repair Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 Regulates Transcription of Caspase Activators and Caspases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- G2/M DNA damage checkpoint
- Stabilization of p53
- Meiotic recombination
- Pexophagy
|
|
- Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
- DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
- Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
- Chronic lymphocytic leukemia (CLL)
|
|
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
- Signaling by GSK3beta mutants
- 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
|
|
- Hepatocellular carcinoma
- Caudal duplication anomaly
|
|
BCL2L2 |
BCL2 like 2 |
|
|
|
|
CD40LG |
CD40 ligand |
- Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
- TNFR2 non-canonical NF-kB pathway
- TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway
|
|
- Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
|
|
CDK8 |
cyclin dependent kinase 8 |
- 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
|
|
|
|
CDKN1A |
cyclin dependent kinase inhibitor 1A |
- SCF(Skp2)-mediated degradation of p27/p21
- AKT phosphorylates targets in the cytosol
- Senescence-Associated Secretory Phenotype (SASP)
- DNA Damage/Telomere Stress Induced Senescence
- Constitutive Signaling by AKT1 E17K in Cancer
- Interleukin-4 and Interleukin-13 signaling
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- Cyclin E associated events during G1/S transition
- Cyclin D associated events in G1
- p53-Dependent G1 DNA Damage Response
- Cyclin A:Cdk2-associated events at S phase entry
- Transcriptional activation of cell cycle inhibitor p21
- The role of GTSE1 in G2/M progression after G2 checkpoint
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
- Transcriptional regulation by RUNX2
- RUNX3 regulates CDKN1A transcription
- Transcriptional regulation of granulopoiesis
- FOXO-mediated transcription of cell cycle genes
- Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
- STAT5 activation downstream of FLT3 ITD mutants
- Signaling by FLT3 fusion proteins
|
|
|
|
CETP |
cholesteryl ester transfer protein |
- LDL remodeling
- HDL remodeling
- NR1H3 & NR1H2 regulate gene expression linked to cholesterol transport and efflux
|
|
|
|
CREBBP |
CREB binding protein |
- Regulation of gene expression by Hypoxia-inducible Factor
- RORA activates gene expression
- BMAL1:CLOCK,NPAS2 activates circadian gene expression
- Pre-NOTCH Transcription and Translation
- Pre-NOTCH Transcription and Translation
- PPARA activates gene expression
- 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
- Transcriptional activation of mitochondrial biogenesis
- Activation of gene expression by SREBF (SREBP)
- 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
- Notch-HLH transcription pathway
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- SUMOylation of transcription cofactors
- Regulation of lipid metabolism by PPARalpha
- Circadian Clock
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- CD209 (DC-SIGN) signaling
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- Activation of the TFAP2 (AP-2) family of transcription factors
- RUNX1 regulates transcription of genes involved in differentiation of myeloid cells
- RUNX3 regulates NOTCH signaling
- RUNX3 regulates NOTCH signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH4 Intracellular Domain Regulates Transcription
- Estrogen-dependent gene expression
- TRAF3-dependent IRF activation pathway
- TRAF6 mediated IRF7 activation
- FOXO-mediated transcription of cell death genes
- Regulation of FOXO transcriptional activity by acetylation
- Regulation of FOXO transcriptional activity by acetylation
|
- 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE
|
- Rubinstein-Taybi syndrome
|
|
CSNK1A1 |
casein kinase 1 alpha 1 |
- Degradation of beta-catenin by the destruction complex
- Beta-catenin phosphorylation cascade
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Disassembly of the destruction complex and recruitment of AXIN to the membrane
- Signaling by GSK3beta mutants
- 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
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Activation of SMO
- Activation of SMO
|
|
|
|
DDX5 |
DEAD-box helicase 5 |
- SUMOylation of transcription cofactors
- mRNA Splicing - Major Pathway
- Estrogen-dependent gene expression
- Replication of the SARS-CoV-1 genome
- Replication of the SARS-CoV-2 genome
|
|
|
|
DGKZ |
diacylglycerol kinase zeta |
- Effects of PIP2 hydrolysis
|
- alpha-Tocopherol succinate
|
|
|
EIF2AK2 |
eukaryotic translation initiation factor 2 alpha kinase 2 |
- ISG15 antiviral mechanism
- Inhibition of PKR
|
|
|
|
EPHA3 |
EPH receptor A3 |
- EPH-Ephrin signaling
- EPH-Ephrin signaling
- EPHA-mediated growth cone collapse
- EPHA-mediated growth cone collapse
- EPH-ephrin mediated repulsion of cells
- EPH-ephrin mediated repulsion of cells
|
|
|
|
HABP4 |
hyaluronan binding protein 4 |
|
|
|
|
HIPK2 |
homeodomain interacting protein kinase 2 |
- YAP1- and WWTR1 (TAZ)-stimulated gene expression
- SUMOylation of transcription cofactors
- Physiological factors
- Regulation of TP53 Activity through Phosphorylation
- RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known
- Regulation of MECP2 expression and activity
|
|
|
|
HTT |
huntingtin |
- Regulation of MECP2 expression and activity
|
|
- Huntington's disease (HD)
|
|
JDP2 |
Jun dimerization protein 2 |
|
|
|