Overview

Homo sapiens (human) Diseases of signal transduction (provided by Reactome)

About the Diseases of signal transduction pathway

Signaling processes are central to human physiology (e.g., Pires-da Silva & Sommer 2003), and their disruption by either germ-line and somatic mutation can lead to serious disease. Here, the molecular consequences of mutations affecting visual signal transduction and signaling by diverse growth factors are annotated.

The longest variant of each gene is displayed. Click the see gene variants link to see all gene variants.

269 gene Click for more »

Gene Symbol Full Name
ADAM10 ADAM metallopeptidase domain 10
JAG1 jagged 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT2 v-akt murine thymoma viral oncogene homolog 2
APC adenomatous polyposis coli
BAD BCL2-associated agonist of cell death
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
BCR breakpoint cluster region
BTC betacellulin
CASP9 caspase 9, apoptosis-related cysteine peptidase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCNC cyclin C
CD19 CD19 molecule
CD28 CD28 molecule
CD80 CD80 molecule
CD86 CD86 molecule
CDK8 cyclin-dependent kinase 8
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CHUK conserved helix-loop-helix ubiquitous kinase
CREB1 cAMP responsive element binding protein 1
CREBBP CREB binding protein
CSNK1A1 casein kinase 1, alpha 1
CTBP1 C-terminal binding protein 1
CTBP2 C-terminal binding protein 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUX1 cut-like homeobox 1
HBEGF heparin-binding EGF-like growth factor
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EP300 E1A binding protein p300
ERBB2 erb-b2 receptor tyrosine kinase 2
ERBB3 erb-b2 receptor tyrosine kinase 3
ERBB4 erb-b2 receptor tyrosine kinase 4
EREG epiregulin
FGF1 fibroblast growth factor 1 (acidic)
FGF2 fibroblast growth factor 2 (basic)
FGF3 fibroblast growth factor 3
FGF4 fibroblast growth factor 4
FGF5 fibroblast growth factor 5
FGF6 fibroblast growth factor 6
FGF7 fibroblast growth factor 7
FGF8 fibroblast growth factor 8 (androgen-induced)
FGF9 fibroblast growth factor 9
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
FGFR2 fibroblast growth factor receptor 2
FGFR4 fibroblast growth factor receptor 4
FKBP1A FK506 binding protein 1A, 12kDa
FOXO1 forkhead box O1
FOXO3 forkhead box O3
MTOR mechanistic target of rapamycin (serine/threonine kinase)
FYN FYN proto-oncogene, Src family tyrosine kinase
GAB1 GRB2-associated binding protein 1
KAT2A K(lysine) acetyltransferase 2A
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive
GRB2 growth factor receptor-bound protein 2
GSK3A glycogen synthase kinase 3 alpha
GSK3B glycogen synthase kinase 3 beta
HDAC1 histone deacetylase 1
HDAC2 histone deacetylase 2
NRG1 neuregulin 1
NR4A1 nuclear receptor subfamily 4, group A, member 1
HRAS Harvey rat sarcoma viral oncogene homolog
HES1 hes family bHLH transcription factor 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
RBPJ recombination signal binding protein for immunoglobulin kappa J region
IRS1 insulin receptor substrate 1
JAG2 jagged 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KRAS Kirsten rat sarcoma viral oncogene homolog
LCK LCK proto-oncogene, Src family tyrosine kinase
LRP6 low density lipoprotein receptor-related protein 6
LRP5 low density lipoprotein receptor-related protein 5
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
KITLG KIT ligand
FOXO4 forkhead box O4
MYC v-myc avian myelocytomatosis viral oncogene homolog
NOTCH1 notch 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDPK1 3-phosphoinositide dependent protein kinase 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLCG1 phospholipase C, gamma 1
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme
PPP2CB protein phosphatase 2, catalytic subunit, beta isozyme
PPP2R1A protein phosphatase 2, regulatory subunit A, alpha
PPP2R1B protein phosphatase 2, regulatory subunit A, beta
PPP2R5A protein phosphatase 2, regulatory subunit B', alpha

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