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ANKRD46 |
ankyrin repeat domain 46 |
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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
- Signaling by GSK3beta mutants
- CTNNB1 S33 mutants aren't phosphorylated
- CTNNB1 S37 mutants aren't phosphorylated
- CTNNB1 S45 mutants aren't phosphorylated
- CTNNB1 T41 mutants 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
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- Cancer of the anal canal
- Familial adenomatous polyposis
- Gastric cancer
- Esophageal cancer
- Gallbladder cancer
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APOA2 |
apolipoprotein A2 |
- PPARA activates gene expression
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
- Chylomicron assembly
- Chylomicron remodeling
- Retinoid metabolism and transport
- Retinoid metabolism and transport
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APP |
amyloid beta precursor protein |
- Platelet degranulation
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosome Vesicle Biogenesis
- Formyl peptide receptors bind formyl peptides and many other ligands
- TAK1-dependent IKK and NF-kappa-B activation
- The NLRP3 inflammasome
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Post-translational protein phosphorylation
- TRAF6 mediated NF-kB activation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Amyloid fiber formation
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- Deferoxamine
- Aluminium
- Zinc
- L-methionine (R)-S-oxide
- Resveratrol
- Tromethamine
- Phenserine
- Tetrathiomolybdate
- CAD106
- Mito-4509
- Edonerpic
- Dimercaprol
- Copper
- Florbetaben (18F)
- Florbetapir (18F)
- Flutemetamol (18F)
- Gantenerumab
- Aducanumab
- Zinc acetate
- Aluminium phosphate
- Aluminum acetate
- Zinc chloride
- Zinc sulfate, unspecified form
- Lecanemab
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AQP1 |
aquaporin 1 (Colton blood group) |
- Erythrocytes take up carbon dioxide and release oxygen
- Erythrocytes take up oxygen and release carbon dioxide
- Vasopressin regulates renal water homeostasis via Aquaporins
- Passive transport by Aquaporins
- Developmental Lineage of Pancreatic Ductal Cells
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- Acetazolamide
- B-nonylglucoside
- Mersalyl
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AQP2 |
aquaporin 2 |
- Vasopressin regulates renal water homeostasis via Aquaporins
- Passive transport by Aquaporins
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- Congenital nephrogenic diabetes insipidus (NDI)
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AQP3 |
aquaporin 3 (Gill blood group) |
- Vasopressin regulates renal water homeostasis via Aquaporins
- Passive transport by Aquaporins
- Differentiation of Keratinocytes in Interfollicular Epidermis in Mammalian Skin
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ARV1 |
ARV1 fatty acid homeostasis modulator |
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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
- Defective homologous recombination repair (HRR) due to BRCA1 loss of function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
- Impaired BRCA2 binding to RAD51
- Impaired BRCA2 binding to PALB2
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- Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
- Chronic lymphocytic leukemia (CLL)
- 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)
- 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
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BCL2L2 |
BCL2 like 2 |
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BMI1 |
BMI1 proto-oncogene, polycomb ring finger |
- 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
- Transcriptional Regulation by E2F6
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BRICD5 |
BRICHOS domain containing 5 |
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BTN2A2 |
butyrophilin subfamily 2 member A2 |
- Butyrophilin (BTN) family interactions
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C14orf180 |
chromosome 14 open reading frame 180 |
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C1GALT1 |
core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 |
- Defective C1GALT1C1 causes TNPS
- O-linked glycosylation of mucins
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C2 |
complement C2 |
- Initial triggering of complement
- Activation of C3 and C5
- Regulation of Complement cascade
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- Systemic lupus erythematosus
- Classic complement pathway component defects, including the following eight diseases: C1q alpha-chain deficiency; C1q beta-chain deficiency; C1q gamma-chain deficiency; C1r deficiency; C1s deficiency; C2 deficiency; C3 deficiency; C4 deficiency
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C2CD2L |
C2CD2 like |
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C3orf52 |
chromosome 3 open reading frame 52 |
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CACNG1 |
calcium voltage-gated channel auxiliary subunit gamma 1 |
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- Ergocalciferol
- Enflurane
- Ibutilide
- Diltiazem
- Spironolactone
- Lercanidipine
- Nicardipine
- Verapamil
- Ethanol
- Fluspirilene
- Efonidipine
- Butamben
- Bioallethrin
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CCDC167 |
coiled-coil domain containing 167 |
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