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KIT

Summary: This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
KIT proto-oncogene receptor tyrosine kinase	MIM:164920	Ensembl:ENSG00000157404	HGNC:HGNC:6342	PA30128	4q12

Gene Categories:

DRUGGABLE GENOME PHOSPHOLIPASE EXTERNAL SIDE OF PLASMA MEMBRANE SERINE THREONINE KINASE LIPID KINASE TYROSINE KINASE CLINICALLY ACTIONABLE CELL SURFACE KINASE

GO terms in KIT

Term Type	Evidence Type	GO Term ID	GO Des.
BP	TAS	GO:0000165	MAPK cascade
BP	IDA	GO:0000187	activation of MAPK activity
BP	ISS	GO:0001541	ovarian follicle development
BP	IEA	GO:0002318	myeloid progenitor cell differentiation
BP	IEA	GO:0002320	lymphoid progenitor cell differentiation
BP	ISS	GO:0002327	immature B cell differentiation
BP	ISS	GO:0002371	dendritic cell cytokine production
BP	IDA	GO:0002551	mast cell chemotaxis
BP	TAS	GO:0006357	regulation of transcription by RNA polymerase II
BP	IEA	GO:0006687	glycosphingolipid metabolic process
BP	ISS	GO:0006954	inflammatory response
BP	TAS	GO:0007165	signal transduction
BP	IBA	GO:0007275	multicellular organism development
BP	ISS	GO:0007283	spermatogenesis
BP	TAS	GO:0007283	spermatogenesis
BP	IEA	GO:0007286	spermatid development
BP	IEA	GO:0008284	positive regulation of cell proliferation
BP	IEA	GO:0008354	germ cell migration
BP	ISS	GO:0008360	regulation of cell shape
BP	IEA	GO:0008542	visual learning
BP	IEP	GO:0008584	male gonad development
BP	IBA	GO:0009968	negative regulation of signal transduction
BP	IEA	GO:0010628	positive regulation of gene expression
BP	TAS	GO:0010863	positive regulation of phospholipase C activity
BP	TAS	GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling
BP	IDA	GO:0018108	peptidyl-tyrosine phosphorylation
BP	IDA	GO:0019221	cytokine-mediated signaling pathway
BP	TAS	GO:0019827	stem cell population maintenance
BP	ISS	GO:0030032	lamellipodium assembly
BP	TAS	GO:0030097	hemopoiesis
BP	IBA	GO:0030154	cell differentiation
BP	ISS	GO:0030217	T cell differentiation
BP	ISS	GO:0030218	erythrocyte differentiation
BP	ISS	GO:0030318	melanocyte differentiation
BP	TAS	GO:0030318	melanocyte differentiation
BP	IEA	GO:0030335	positive regulation of cell migration
BP	IEA	GO:0031274	positive regulation of pseudopodium assembly
BP	IDA	GO:0031532	actin cytoskeleton reorganization
BP	IDA	GO:0032762	mast cell cytokine production
BP	IBA	GO:0033674	positive regulation of kinase activity
BP	IEA	GO:0035019	somatic stem cell population maintenance
BP	ISS	GO:0035162	embryonic hemopoiesis
BP	IEA	GO:0035234	ectopic germ cell programmed cell death
BP	IEA	GO:0035701	hematopoietic stem cell migration
BP	ISS	GO:0035855	megakaryocyte development
BP	IDA	GO:0038093	Fc receptor signaling pathway
BP	IDA	GO:0038109	Kit signaling pathway
BP	ISS	GO:0038162	erythropoietin-mediated signaling pathway
BP	TAS	GO:0042127	regulation of cell proliferation
BP	IMP	GO:0042531	positive regulation of tyrosine phosphorylation of STAT protein
BP	IBA	GO:0043066	negative regulation of apoptotic process
BP	IEA	GO:0043069	negative regulation of programmed cell death
BP	IMP	GO:0043303	mast cell degranulation
BP	IBA	GO:0043410	positive regulation of MAPK cascade
BP	IMP	GO:0043410	positive regulation of MAPK cascade
BP	ISS	GO:0043473	pigmentation
BP	TAS	GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity
BP	IEA	GO:0043586	tongue development
BP	IEA	GO:0045747	positive regulation of Notch signaling pathway
BP	IMP	GO:0046427	positive regulation of JAK-STAT cascade
BP	IEA	GO:0046686	response to cadmium ion
BP	IDA	GO:0046777	protein autophosphorylation
BP	IEA	GO:0046854	phosphatidylinositol phosphorylation
BP	IEA	GO:0048070	regulation of developmental pigmentation
BP	IEA	GO:0048103	somatic stem cell division
BP	IEA	GO:0048170	positive regulation of long-term neuronal synaptic plasticity
BP	ISS	GO:0048565	digestive tract development
BP	ISS	GO:0048863	stem cell differentiation
BP	IEA	GO:0050673	epithelial cell proliferation
BP	ISS	GO:0050910	detection of mechanical stimulus involved in sensory perception of sound
BP	IMP	GO:0051091	positive regulation of DNA-binding transcription factor activity
BP	TAS	GO:0051897	positive regulation of protein kinase B signaling
BP	IDA	GO:0060326	cell chemotaxis
BP	ISS	GO:0060374	mast cell differentiation
BP	TAS	GO:0060374	mast cell differentiation
BP	IBA	GO:0070374	positive regulation of ERK1 and ERK2 cascade
BP	TAS	GO:0070662	mast cell proliferation
BP	IEA	GO:0097067	cellular response to thyroid hormone stimulus
BP	ISS	GO:0097324	melanocyte migration
BP	ISS	GO:0097326	melanocyte adhesion
BP	IEA	GO:0120072	positive regulation of pyloric antrum smooth muscle contraction
BP	IEA	GO:1904251	regulation of bile acid metabolic process
BP	IEA	GO:1904343	positive regulation of colon smooth muscle contraction
BP	IEA	GO:1904349	positive regulation of small intestine smooth muscle contraction
BP	IDA	GO:1905065	positive regulation of vascular smooth muscle cell differentiation
CC	IEA	GO:0001669	acrosomal vesicle
CC	IDA	GO:0005615	extracellular space
CC	IBA	GO:0005737	cytoplasm
CC	IDA	GO:0005886	plasma membrane
CC	TAS	GO:0005886	plasma membrane
CC	IBA	GO:0005887	integral component of plasma membrane
CC	IEA	GO:0005911	cell-cell junction
CC	IEA	GO:0009897	external side of plasma membrane
CC	IEA	GO:0009898	cytoplasmic side of plasma membrane
CC	IEA	GO:0016021	integral component of membrane
CC	IEA	GO:0042629	mast cell granule
CC	IBA	GO:0043235	receptor complex
MF	IEA	GO:0002020	protease binding
MF	IBA	GO:0004709	MAP kinase kinase kinase activity
MF	IBA	GO:0004713	protein tyrosine kinase activity
MF	TAS	GO:0004713	protein tyrosine kinase activity
MF	IBA	GO:0004714	transmembrane receptor protein tyrosine kinase activity
MF	IDA	GO:0004714	transmembrane receptor protein tyrosine kinase activity
MF	IBA	GO:0004888	transmembrane signaling receptor activity
MF	IEA	GO:0005020	stem cell factor receptor activity
MF	TAS	GO:0005088	Ras guanyl-nucleotide exchange factor activity
MF	IPI	GO:0005515	protein binding
MF	IEA	GO:0005524	ATP binding
MF	IBA	GO:0019838	growth factor binding
MF	IDA	GO:0019955	cytokine binding
MF	IBA	GO:0031434	mitogen-activated protein kinase kinase binding
MF	IPI	GO:0042803	protein homodimerization activity
MF	IEA	GO:0046872	metal ion binding
MF	TAS	GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity

Gene expression in normal tissue: KIT

Select Project:

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in KIT

Database	Pathway ID	Pathway Des.
pid	cmyb_pathway	C-MYB transcription factor network
pid	kitpathway	Signaling events mediated by Stem cell factor receptor (c-Kit)
pharmgkb	PA164713427	Imatinib Pathway, Pharmacokinetics/Pharmacodynamics
pharmgkb	PA165959425	Pathway_PA165959425
pharmgkb	PA165959584	Sorafenib Pharmacodynamics
netpath	Pathway_EGFR1	EGFR1
netpath	Pathway_Gastrin	Gastrin
netpath	Pathway_KitReceptor	KitReceptor
kegg	hsa04010	MAPK signaling pathway - Homo sapiens (human)
kegg	hsa04014	Ras signaling pathway - Homo sapiens (human)
kegg	hsa04015	Rap1 signaling pathway - Homo sapiens (human)
kegg	hsa04060	Cytokine-cytokine receptor interaction - Homo sapiens (human)
kegg	hsa04072	Phospholipase D signaling pathway - Homo sapiens (human)
kegg	hsa04151	PI3K-Akt signaling pathway - Homo sapiens (human)
kegg	hsa04640	Hematopoietic cell lineage - Homo sapiens (human)
kegg	hsa04916	Melanogenesis - Homo sapiens (human)
kegg	hsa05200	Pathways in cancer - Homo sapiens (human)
kegg	hsa05221	Acute myeloid leukemia - Homo sapiens (human)
kegg	hsa05224	Breast cancer - Homo sapiens (human)
kegg	hsa05230	Central carbon metabolism in cancer - Homo sapiens (human)
wikipathways	WP2002	miR-targeted genes in epithelium - TarBase
wikipathways	WP2004	miR-targeted genes in lymphocytes - TarBase
wikipathways	WP2005	miR-targeted genes in muscle cell - TarBase
wikipathways	WP2406	Cardiac Progenitor Differentiation
wikipathways	WP2848	Differentiation Pathway
wikipathways	WP304	Kit receptor signaling pathway
wikipathways	WP3640	Imatinib and Chronic Myeloid Leukemia
wikipathways	WP3932	Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
wikipathways	WP4086	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
wikipathways	WP4172	PI3K-Akt Signaling Pathway
wikipathways	WP4223	Ras Signaling
reactome	R-HSA-1257604	PIP3 activates AKT signaling
reactome	R-HSA-1433557	Signaling by SCF-KIT
reactome	R-HSA-1433557	Signaling by SCF-KIT
reactome	R-HSA-1433559	Regulation of KIT signaling
reactome	R-HSA-1433559	Regulation of KIT signaling
reactome	R-HSA-162582	Signal Transduction
reactome	R-HSA-162582	Signal Transduction
reactome	R-HSA-1643685	Disease
reactome	R-HSA-199418	Negative regulation of the PI3K/AKT network
reactome	R-HSA-212436	Generic Transcription Pathway
reactome	R-HSA-2219528	PI3K/AKT Signaling in Cancer
reactome	R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer
reactome	R-HSA-5663202	Diseases of signal transduction
reactome	R-HSA-5673001	RAF/MAP kinase cascade
reactome	R-HSA-5683057	MAPK family signaling cascades
reactome	R-HSA-5684996	MAPK1/MAPK3 signaling
reactome	R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
reactome	R-HSA-73857	RNA Polymerase II Transcription
reactome	R-HSA-74160	Gene expression (Transcription)
reactome	R-HSA-8864260	Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
reactome	R-HSA-8866910	TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
reactome	R-HSA-9006925	Intracellular signaling by second messengers
reactome	R-HSA-9006934	Signaling by Receptor Tyrosine Kinases
reactome	R-HSA-9006934	Signaling by Receptor Tyrosine Kinases
biocarta	badpathway	regulation of bad phosphorylation
biocarta	melanocytepathway	melanocyte development and pigmentation pathway

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD193	Fqi1	3
iGMDRD152	179324-69-7	4
iGMDRD61	Kinetin riboside	2
iGMDRD446	LY 2183240	1
iGMDRD280	CYTOCHALASIN B	3
iGMDRD394	BX-795	1
iGMDRD679	Bistramide A	1
iGMDRD466	Chaetocin	3
iGMDRD579	PF750	3
iGMDRD599	Salermide	1
iGMDRD313	Axitinib	1
iGMDRD126	Tipifarnib	5
iGMDRD354	Midostaurin	1
iGMDRD239	Dasatinib	41
iGMDRD670	ML 210	2
iGMDRD144	NSC95397	2
iGMDRD399	Selumetinib	1
iGMDRD100	Zebularine	1
iGMDRD451	Serdemetan	1
iGMDRD41	Imatinib	385
iGMDRD190	Nilotinib	60
iGMDRD64	Parbendazole	3
iGMDRD134	Sorafenib	51
iGMDRD422	Regorafenib	60
iGMDRD920	HSP90 inhibitor	5
iGMDRD138	PX 12	6
iGMDRD270	Ciclosporin	3
iGMDRD52	Rotenone	3
iGMDRD870	BRD63610	1
iGMDRD187	BRD9876	2
iGMDRD801	2,4-dideoxy-DC-45-A2	5
iGMDRD441	TW 37	1
iGMDRD57	Chloropentafluorobenzene	3
iGMDRD314	Tanespimycin	2
iGMDRD341	Triacsin c	2
iGMDRD945	ML214	6
iGMDRD883	CIL55A	4
iGMDRD123	Isoevodiamine	1
iGMDRD901	ELCPK	1
iGMDRD211	(1S,3R)-RSL3	3
iGMDRD512	nutlin 3	3
iGMDRD48	Dexamethasone	4
iGMDRD520	Pictilisib	1
iGMDRD456	Crizotinib	1
iGMDRD150	RITA	5
iGMDRD116	CD437	2
iGMDRD872	BRD7137	4
iGMDRD322	FK 866	3
iGMDRD246	NPC26	3
iGMDRD467	Motesanib	1
iGMDRD121	GMX1778	4
iGMDRD251	ML162	2
iGMDRD137	Indisulam	9
iGMDRD551	Ponatinib	8
iGMDRD241	Sunitinib	159
iGMDRD705	Nakiterpiosin	3
iGMDRD289	Parthenolide	3

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in KIT

SITE

DATATYPES

CLASSFICATION

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