Novel |
PAX6 |
paired box 6 |
- Regulation of gene expression in beta cells
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
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- Aniridia
- Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
- Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON)
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Novel |
PEX3 |
peroxisomal biogenesis factor 3 |
- ABC transporters in lipid homeostasis
- Class I peroxisomal membrane protein import
- Class I peroxisomal membrane protein import
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- Zellweger syndrome spectrum, including: Zellweger syndrome (ZS); Adrenoleukodystrophy, neonatal (NALD); Infantile Refsum disease (IRD)
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Novel |
B3GNT3 |
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 |
- Keratan sulfate biosynthesis
- O-linked glycosylation of mucins
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Novel |
BST2 |
bone marrow stromal cell antigen 2 |
- Neutrophil degranulation
- Interferon alpha/beta signaling
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Novel |
CALML5 |
calmodulin like 5 |
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Novel |
CAPRIN1 |
cell cycle associated protein 1 |
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Novel |
FJX1 |
four-jointed box kinase 1 |
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Novel |
HIPK3 |
homeodomain interacting protein kinase 3 |
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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
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- 9-ACETYL-2,3,4,9-TETRAHYDRO-1H-CARBAZOL-1-ONE
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- Rubinstein-Taybi syndrome
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PRKACA |
protein kinase cAMP-activated catalytic subunit alpha |
- PKA-mediated phosphorylation of CREB
- PKA-mediated phosphorylation of key metabolic factors
- Triglyceride catabolism
- PKA activation
- PKA activation in glucagon signalling
- DARPP-32 events
- 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
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
- Rap1 signalling
- Regulation of insulin secretion
- Vasopressin regulates renal water homeostasis via Aquaporins
- VEGFA-VEGFR2 Pathway
- CREB1 phosphorylation through the activation of Adenylate Cyclase
- CREB1 phosphorylation through the activation of Adenylate Cyclase
- Interleukin-3, Interleukin-5 and GM-CSF signaling
- Ion homeostasis
- Degradation of GLI1 by the proteasome
- Degradation of GLI2 by the proteasome
- GLI3 is processed to GLI3R by the proteasome
- Hedgehog 'off' state
- Anchoring of the basal body to the plasma membrane
- CD209 (DC-SIGN) signaling
- MAPK6/MAPK4 signaling
- RET signaling
- AURKA Activation by TPX2
- HDL assembly
- ROBO receptors bind AKAP5
- Loss of phosphorylation of MECP2 at T308
- Regulation of MECP2 expression and activity
- Regulation of glycolysis by fructose 2,6-bisphosphate metabolism
- ADORA2B mediated anti-inflammatory cytokines production
- ADORA2B mediated anti-inflammatory cytokines production
- FCGR3A-mediated IL10 synthesis
- FCGR3A-mediated IL10 synthesis
- Factors involved in megakaryocyte development and platelet production
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- Pentanal
- Balanol Analog 2
- 3-[(3-sec-butyl-4-hydroxybenzoyl)amino]azepan-4-yl 4-(2-hydroxy-5-methoxybenzoyl)benzoate
- Phosphonothreonine
- Balanol Analog 1
- 3,5-Diiodotyrosine
- Balanol
- Dexfosfoserine
- S,S-(2-Hydroxyethyl)Thiocysteine
- Hydroxyfasudil
- (2S)-1-(3H-Indol-3-yl)-3-{[5-(6-isoquinolinyl)-3-pyridinyl]oxy}-2-propanamine
- (2S)-1-{[5-(1H-Indazol-5-yl)-3-pyridinyl]oxy}-3-(7aH-indol-3-yl)-2-propanamine
- (1S)-2-(1H-INDOL-3-YL)-1-[({5-[(E)-2-PYRIDIN-4-YLVINYL]PYRIDIN-3-YL}OXY)METHYL]ETHYLAMINE
- (2S)-1-(6H-INDOL-3-YL)-3-{[5-(7H-PYRAZOLO[3,4-C]PYRIDIN-5-YL)PYRIDIN-3-YL]OXY}PROPAN-2-AMINE
- (1S)-1-(1H-INDOL-3-YLMETHYL)-2-(2-PYRIDIN-4-YL-[1,7]NAPHTYRIDIN-5-YLOXY)-EHYLAMINE
- N-[(1S)-2-AMINO-1-(2,4-DICHLOROBENZYL)ETHYL]-5-[2-(METHYLAMINO)PYRIMIDIN-4-YL]THIOPHENE-2-CARBOXAMIDE
- 3-(1H-indol-3-yl)-4-{1-[2-(1-methylpyrrolidin-2-yl)ethyl]-1H-indol-3-yl}-1H-pyrrole-2,5-dione
- (4R,2S)-5'-(4-(4-CHLOROBENZYLOXY)PYRROLIDIN-2-YLMETHANESULFONYL)ISOQUINOLINE
- N-METHYL-1-[4-(9H-PURIN-6-YL)PHENYL]METHANAMINE
- (S)-1-PHENYL-1-[4-(9H-PURIN-6-YL)PHENYL]METHANAMINE
- 6-{4-[4-(4-CHLOROPHENYL)PIPERIDIN-4-YL]PHENYL}-9H-PURINE
- (2R)-2-(4-chlorophenyl)-2-[4-(1H-pyrazol-4-yl)phenyl]ethanamine
- (2S)-2-(4-chlorophenyl)-2-[4-(1H-pyrazol-4-yl)phenyl]ethanamine
- 4-(4-CHLOROPHENYL)-4-[4-(1H-PYRAZOL-4-YL)PHENYL]PIPERIDINE
- (2R)-2-(4-CHLOROPHENYL)-2-PHENYLETHANAMINE
- (S)-2-METHYL-1-[(4-METHYL-5-ISOQUINOLINE)SULFONYL]-HOMOPIPERAZINE
- ISOQUINOLINE-5-SULFONIC ACID (2-(2-(4-CHLOROBENZYLOXY)ETHYLAMINO)ETHYL)AMIDE
- H-89
- 5-(2-methylpiperazine-1-sulfonyl)isoquinoline
- N-[2-(METHYLAMINO)ETHYL]-5-ISOQUINOLINESULFONAMIDE
- 2-[4-(3-METHYL-1H-PYRAZOL-4-YL)PHENYL]ETHANAMINE
- (2S)-1-(1H-INDOL-3-YL)-3-{[5-(3-METHYL-1H-INDAZOL-5-YL)PYRIDIN-3-YL]OXY}PROPAN-2-AMINE
- 3-pyridin-4-yl-1H-indazole
- 5-benzyl-1,3-thiazol-2-amine
- 1-[4-(4-chlorophenyl)-1-(7H-pyrrolo[2,3-d]pyrimidin-4-yl)piperidin-4-yl]methanamine
- 1-[4-(4-chlorobenzyl)-1-(7H-pyrrolo[2,3-d]pyrimidin-4-yl)piperidin-4-yl]methanamine
- 4-(4-chlorobenzyl)-1-(7H-pyrrolo[2,3-d]pyrimidin-4-yl)piperidin-4-aminium
- Fasudil
- Myristic acid
- A-674563
- 3-PYRIDIN-4-YL-2,4-DIHYDRO-INDENO[1,2-.C.] PYRAZOLE
- Y-27632
- Ellagic acid
- Fostamatinib
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TP53 |
tumor protein p53 |
- Activation of NOXA and translocation to mitochondria
- Activation of PUMA and translocation to mitochondria
- Pre-NOTCH Transcription and Translation
- Oxidative Stress Induced Senescence
- Formation of Senescence-Associated Heterochromatin Foci (SAHF)
- Oncogene Induced Senescence
- DNA Damage/Telomere Stress Induced Senescence
- SUMOylation of transcription factors
- Autodegradation of the E3 ubiquitin ligase COP1
- Association of TriC/CCT with target proteins during biosynthesis
- TP53 Regulates Metabolic Genes
- Ub-specific processing proteases
- Ovarian tumor domain proteases
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Interleukin-4 and Interleukin-13 signaling
- TP53 Regulates Transcription of DNA Repair Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Caspase Activators and Caspases
- TP53 Regulates Transcription of Death Receptors and Ligands
- TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
- TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain
- TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest
- Regulation of TP53 Expression
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Acetylation
- Regulation of TP53 Activity through Association with Co-factors
- Regulation of TP53 Activity through Methylation
- PI5P Regulates TP53 Acetylation
- G2/M DNA damage checkpoint
- G2/M Checkpoints
- Stabilization of p53
- Transcriptional activation of cell cycle inhibitor p21
- The role of GTSE1 in G2/M progression after G2 checkpoint
- Transcriptional Regulation by VENTX
- RUNX3 regulates CDKN1A transcription
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Factors involved in megakaryocyte development and platelet production
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- Acetylsalicylic acid
- Zinc
- Triethyl phosphate
- AZD 3355
- 1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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- Osteosarcoma
- Adrenal carcinoma
- Thyroid cancer
- Breast cancer
- Basal cell carcinoma
- Malignant melanoma
- Pancreatic cancer
- Gastric cancer
- Malignant pleural mesothelioma
- Non-small cell lung cancer
- Esophageal cancer
- Oral cancer
- Multiple myeloma
- Small cell lung cancer
- Li-Fraumeni syndrome, including: Classic Li-Fraumeni syndrome (LFS); LFS-like syndrome (LFSL)
- Glioma
- Squamous cell carcinoma
- Kaposi's sarcoma
- Cholangiocarcinoma
- Gallbladder cancer
- Cancer of the anal canal
- Hepatocellular carcinoma
- Choriocarcinoma
- Vulvar cancer
- Choroid plexus papilloma
- Burkitt lymphoma
- Adult T-cell leukemia
- Hairy-cell leukemia
- Bladder cancer
- Chronic lymphocytic leukemia (CLL)
- Penile cancer
- Endometrial Cancer
- Ovarian cancer
- Colorectal cancer
- Laryngeal cancer
- Chronic myeloid leukemia (CML)
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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
- Maturation of nucleoprotein
- Maturation of nucleoprotein
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AREG |
amphiregulin |
- PIP3 activates AKT signaling
- Signaling by EGFR
- GRB2 events in EGFR signaling
- GAB1 signalosome
- SHC1 events in EGFR signaling
- EGFR downregulation
- COPII-mediated vesicle transport
- EGFR interacts with phospholipase C-gamma
- Constitutive Signaling by Aberrant PI3K in Cancer
- Inhibition of Signaling by Overexpressed EGFR
- RAF/MAP kinase cascade
- Cargo concentration in the ER
- PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- Extra-nuclear estrogen signaling
- Estrogen-dependent nuclear events downstream of ESR-membrane signaling
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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
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MYC |
MYC proto-oncogene, bHLH transcription factor |
- Transcription of E2F targets under negative control by DREAM complex
- 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
- Binding of TCF/LEF:CTNNB1 to target gene promoters
- MAPK6/MAPK4 signaling
- Ub-specific processing proteases
- Interleukin-4 and Interleukin-13 signaling
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- TFAP2 (AP-2) family regulates transcription of cell cycle factors
- RUNX3 regulates WNT signaling
- Estrogen-dependent gene expression
- Transcriptional regulation of granulopoiesis
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- Acetylsalicylic acid
- Nadroparin
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- Choriocarcinoma
- Penile cancer
- Burkitt lymphoma
- Oral cancer
- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
- Multiple myeloma
- Small cell lung cancer
- Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)
- Osteosarcoma
- Kaposi's sarcoma
- Laryngeal cancer
- Breast cancer
- Ovarian cancer
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MDM2 |
MDM2 proto-oncogene |
- AKT phosphorylates targets in the cytosol
- Oxidative Stress Induced Senescence
- Oncogene Induced Senescence
- SUMOylation of transcription factors
- SUMOylation of ubiquitinylation proteins
- Trafficking of AMPA receptors
- Constitutive Signaling by AKT1 E17K in Cancer
- Ub-specific processing proteases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- Stabilization of p53
- Regulation of RUNX3 expression and activity
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- Zinc
- Cis-[4,5-Bis-(4-Bromophenyl)-2-(2-Ethoxy-4-Methoxyphenyl)-4,5-Dihydroimidazol-1-Yl]-[4-(2-Hydroxyethyl)Piperazin-1-Yl]Methanone
- Cis-[4,5-Bis-(4-Chlorophenyl)-2-(2-Isopropoxy-4-Methoxyphenyl)-4,5-Dihyd Roimidazol-1-Yl]-Piperazin-1-Yl-Methanone
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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- Choriocarcinoma
- Osteosarcoma
- Glioma
- Penile cancer
- Alveolar rhabdomyosarcoma
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DVL3 |
dishevelled segment polarity protein 3 |
- TCF dependent signaling in response to WNT
- WNT mediated activation of DVL
- PCP/CE pathway
- PCP/CE pathway
- 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
- Negative regulation of TCF-dependent signaling by DVL-interacting proteins
- RHO GTPases Activate Formins
- WNT5:FZD7-mediated leishmania damping
- WNT5:FZD7-mediated leishmania damping
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CEP70 |
centrosomal protein 70 |
- 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
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TP63 |
tumor protein p63 |
- Activation of PUMA and translocation to mitochondria
- TP53 Regulates Metabolic Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Caspase Activators and Caspases
- TP53 Regulates Transcription of Death Receptors and Ligands
- Regulation of TP53 Activity through Association with Co-factors
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- Limb-mammary syndrome
- ADULT syndrome
- Split-hand/foot malformation (SHFM)
- Isolated orofacial clefts, including: Cleft lip with or without cleft palate; Cleft palate
- Ectrodactyly-ectodermal dysplasia cleft-palate syndrome (EEC syndrome)
- Ankyloblepharon-ctodermal defects-cleft lip/palate (AEC) syndrome and Rapp-Hodgkin syndrome
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TP73 |
tumor protein p73 |
- Activation of PUMA and translocation to mitochondria
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Caspase Activators and Caspases
- TP53 Regulates Transcription of Death Receptors and Ligands
- Regulation of TP53 Activity through Association with Co-factors
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
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- Zinc
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
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