Gene table of KIT : KIT proto-oncogene receptor tyrosine kinase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with KIT	OMIM link	Number of associated genes	genes
154800	MAST CELL DISEASE	OMIM	link to OMIM	1	KIT
601626	LEUKEMIA, ACUTE MYELOID	ClinVar, OMIM	link to OMIM	23	FLT3, RUNX1, WHSC1L1, KIT, MLF1, CHIC2, CEBPA, LPP, SH3GL1, PICALM, NPM1, CBFB, ETV6, SETBP1, MLLT10, TERT, NUP214, JAK2, GATA2, TGM6, DDX41, NSD1, KRAS
606764	GASTROINTESTINAL STROMAL TUMOR	ClinVar, OMIM, HUMSAVAR	link to OMIM	10	SDHB, SLC19A1, MTHFR, SDHC, FOLR1, MTRR, KIT, PDGFRA, SHMT1, MTR
172800	PIEBALD TRAIT	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	KIT, SNAI2
273300	TESTICULAR GERM CELL TUMOR	ClinVar, OMIM	link to OMIM	5	STK11, BCL10, KIT, FGFR3, STK10

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Annotation of the gene KIT

Associated genes in ENSEMBL

ENSG00000157404

Associated proteins - SwissProt Accession ID

P10721

Associated PDB IDs

Cytogenetic Band

4q12

Tandem repeats annotation

The gene is in the tandem Group 212, together with the genes:

PDGFRA

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Acute myeloid leukemia	hsa05221	6.74
Pathways in cancer	hsa05200	3.98
Rap1 signaling pathway	hsa04015	4.97
Ras signaling pathway	hsa04014	4.9
Melanogenesis	hsa04916	5.97
Endocytosis	hsa04144	4.92
Hematopoietic cell lineage	hsa04640	6.18
Central carbon metabolism in cancer	hsa05230	6.7
Cytokine-cytokine receptor interaction	hsa04060	4.67
PI3K-Akt signaling pathway	hsa04151	4.21

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	R-HSA-2404192	4.85
Gastrin-CREB signalling pathway via PKC and MAPK	R-HSA-881907	4.26
NCAM signaling for neurite out-growth	R-HSA-375165	4.9
PI3K/AKT activation	R-HSA-198203	6.32
Signaling by Interleukins	R-HSA-449147	4.71
PI3K events in ERBB4 signaling	R-HSA-1250342	6.37
Signaling by the B Cell Receptor (BCR)	R-HSA-983705	4.62
Signaling by Leptin	R-HSA-2586552	5.1
Constitutive Signaling by Aberrant PI3K in Cancer	R-HSA-2219530	7.05
PI3K events in ERBB2 signaling	R-HSA-1963642	6.37
Cytokine Signaling in Immune system	R-HSA-1280215	3.74
IGF1R signaling cascade	R-HSA-2428924	4.85
Downstream signal transduction	R-HSA-186763	4.65
GAB1 signalosome	R-HSA-180292	6.31
IRS-related events triggered by IGF1R	R-HSA-2428928	4.85
Signaling by ERBB4	R-HSA-1236394	4.7
IRS-mediated signalling	R-HSA-112399	4.87
MAPK1/MAPK3 signaling	R-HSA-5684996	5.11
Adaptive Immune System	R-HSA-1280218	3.19
Disease	R-HSA-1643685	3.33
Role of LAT2/NTAL/LAB on calcium mobilization	R-HSA-2730905	4.95
Downstream signaling of activated FGFR1	R-HSA-5654687	4.71
MAPK family signaling cascades	R-HSA-5683057	4.89
PIP3 activates AKT signaling	R-HSA-1257604	6.37
PI-3K cascade:FGFR3	R-HSA-5654710	6.37
Signaling by VEGF	R-HSA-194138	4.66
Signalling to p38 via RIT and RIN	R-HSA-187706	5.12
PI-3K cascade:FGFR1	R-HSA-5654689	6.37
FCERI mediated MAPK activation	R-HSA-2871796	4.32
Signaling by EGFR	R-HSA-177929	4.59
FRS-mediated FGFR2 signaling	R-HSA-5654700	5.14
SOS-mediated signalling	R-HSA-112412	5.15
FRS-mediated FGFR3 signaling	R-HSA-5654706	5.14
Developmental Biology	R-HSA-1266738	3.48
Signaling by Insulin receptor	R-HSA-74752	4.73
Downstream signaling events of B Cell Receptor (BCR)	R-HSA-1168372	5.59
Downstream signaling of activated FGFR3	R-HSA-5654708	4.71
RAF/MAP kinase cascade	R-HSA-5673001	5.15
Signaling by FGFR4	R-HSA-5654743	4.69
Signaling by FGFR3	R-HSA-5654741	4.69
VEGFA-VEGFR2 Pathway	R-HSA-4420097	4.7
GRB2 events in ERBB2 signaling	R-HSA-1963640	5.15
Regulation of KIT signaling	R-HSA-1433559	8.98
Signaling by FGFR	R-HSA-190236	4.67
PI3K/AKT Signaling in Cancer	R-HSA-2219528	6.56
Diseases of signal transduction	R-HSA-5663202	4.89
Fc epsilon receptor (FCERI) signaling	R-HSA-2454202	4.03
Immune System	R-HSA-168256	2.37
Downstream signaling of activated FGFR4	R-HSA-5654716	4.71
Innate Immune System	R-HSA-168249	3.17
Signaling by SCF-KIT	R-HSA-1433557	4.73
Interleukin-2 signaling	R-HSA-451927	5.05
SHC1 events in ERBB2 signaling	R-HSA-1250196	5.15
Signaling by ERBB2	R-HSA-1227986	4.66
Signalling to RAS	R-HSA-167044	5.08
DAP12 signaling	R-HSA-2424491	4.64
Interleukin-3, 5 and GM-CSF signaling	R-HSA-512988	4.99
PI-3K cascade:FGFR2	R-HSA-5654695	6.37
Downstream signaling of activated FGFR2	R-HSA-5654696	4.71
Signaling by FGFR1	R-HSA-5654736	4.69
SHC1 events in EGFR signaling	R-HSA-180336	5.15
NGF signalling via TRKA from the plasma membrane	R-HSA-187037	4.51
FRS-mediated FGFR1 signaling	R-HSA-5654693	5.14
Prolonged ERK activation events	R-HSA-169893	5.11
FRS-mediated FGFR4 signaling	R-HSA-5654712	5.14
Signalling by NGF	R-HSA-166520	4.23
Signaling by GPCR	R-HSA-372790	2.68
Signaling by FGFR2	R-HSA-5654738	4.68
GRB2 events in EGFR signaling	R-HSA-179812	5.15
Signalling to ERKs	R-HSA-187687	5.04
Insulin receptor signalling cascade	R-HSA-74751	4.85
ARMS-mediated activation	R-HSA-170984	5.12
Frs2-mediated activation	R-HSA-170968	5.12
PI-3K cascade:FGFR4	R-HSA-5654720	6.37
DAP12 interactions	R-HSA-2172127	4.56
Interleukin receptor SHC signaling	R-HSA-912526	5.09
SHC1 events in ERBB4 signaling	R-HSA-1250347	5.15
Signaling by PDGF	R-HSA-186797	4.53
Axon guidance	R-HSA-422475	3.93
VEGFR2 mediated cell proliferation	R-HSA-5218921	5.07
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
Ras guanyl-nucleotide exchange factor activity	GO:0005088	4.31
signaling receptor activity	GO:0038023	2.49
phosphatidylinositol 3-kinase activity	GO:0035004	5.49
purine ribonucleoside triphosphate binding	GO:0035639	2.22
cytokine binding	GO:0019955	5.21
guanyl-nucleotide exchange factor activity	GO:0005085	4.02
enzyme binding	GO:0019899	2.27
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
phosphatidylinositol-4,5-bisphosphate 3-kinase activity	GO:0046934	5.61
cation binding	GO:0043169	1.4
molecular function regulator	GO:0098772	2.51
protein tyrosine kinase activity	GO:0004713	4.54
receptor signaling protein activity	GO:0005057	4.76
transmembrane receptor protein tyrosine kinase activity	GO:0004714	5.55
ion binding	GO:0043167	1.36
receptor signaling protein tyrosine kinase activity	GO:0004716	7.44
phosphatidylinositol bisphosphate kinase activity	GO:0052813	5.56
transferase activity	GO:0016740	1.95
identical protein binding	GO:0042802	2.63
purine nucleoside binding	GO:0001883	2.22
protease binding	GO:0002020	5.08
protein kinase activity	GO:0004672	3.27
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
protein homodimerization activity	GO:0042803	3.16
kinase activity	GO:0016301	2.93
ribonucleoside binding	GO:0032549	2.22
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
stem cell factor receptor activity	GO:0005020	9.74
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
transmembrane signaling receptor activity	GO:0004888	2.57
adenyl ribonucleotide binding	GO:0032559	2.41
transmembrane receptor activity	GO:0099600	2.53
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
protein dimerization activity	GO:0046983	2.72
transmembrane receptor protein kinase activity	GO:0019199	5.32
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32