Endometriosis Knowledgebase

Search Result

Gene id

3815

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

KIT Gene UCSC Ensembl

Aliases

C-Kit, CD117, PBT, SCFR

Gene name

KIT proto-oncogene receptor tyrosine kinase

Alternate names

mast/stem cell growth factor receptor Kit, c-Kit protooncogene, p145 c-kit, piebald trait protein, proto-oncogene c-Kit, proto-oncogene tyrosine-protein kinase Kit, soluble KIT variant 1, tyrosine-protein kinase Kit, v-kit Hardy-Zuckerman 4 feline sarcoma viral o,

Gene location

4q12 (54657927: 54740714) Exons: 21 NC_000004.12

Gene summary(Entrez)

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]

OMIM

164920

Protein Summary

Protein general information

P10721

Name: Mast/stem cell growth factor receptor Kit (SCFR) (EC 2.7.10.1) (Piebald trait protein) (PBT) (Proto oncogene c Kit) (Tyrosine protein kinase Kit) (p145 c kit) (v kit Hardy Zuckerman 4 feline sarcoma viral oncogene homolog) (CD antigen CD117)

Length: 976 Mass: 109,865

Tissue specificity: Isoform 1 and isoform 2 are detected in spermatogonia and Leydig cells. Isoform 3 is detected in round spermatids, elongating spermatids and spermatozoa (at protein level). Widely expressed. Detected in the hematopoietic system, the ga

Sequence

MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRVGDEIRLLCTDPGFVKWTFEILDETN
ENKQNEWITEKAEATNTGKYTCTNKHGLSNSIYVFVRDPAKLFLVDRSLYGKEDNDTLVRCPLTDPEVTNYSLKG
CQGKPLPKDLRFIPDPKAGIMIKSVKRAYHRLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYLLRE
GEEFTVTCTIKDVSSSVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSAN
VTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIYMNRTFTDKWEDYPKSENESNIRYVS
ELHLTRLKGTEGGTYTFLVSNSDVNAAIAFNVYVNTKPEILTYDRLVNGMLQCVAAGFPEPTIDWYFCPGTEQRC
SASVLPVDVQTLNSSGPPFGKLVVQSSIDSSAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIHPHTLFTPL
LIGFVIVAGMMCIIVMILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAF
GKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGACTIGGPTLVITEYCCY
GDLLNFLRRKRDSFICSKQEDHAEAALYKNLLHSKESSCSDSTNEYMDMKPGVSYVVPTKADKRRSVRIGSYIER
DVTPAIMEDDELALDLEDLLSFSYQVAKGMAFLASKNCIHRDLAARNILLTHGRITKICDFGLARDIKNDSNYVV
KGNARLPVKWMAPESIFNCVYTFESDVWSYGIFLWELFSLGSSPYPGMPVDSKFYKMIKEGFRMLSPEHAPAEMY
DIMKTCWDADPLKRPTFKQIVQLIEKQISESTNHIYSNLANCSPNRQKPVVDHSVRINSVGSTASSSQPLLVHDD
V

Structural information

Protein Domains	Ig-like (27-112) Ig-like (121-205) Ig-like (212-308) Ig-like (317-410) Ig-like (413-507) Protein (589-937)
Interpro:	IPR007110 IPR013783 IPR003599 IPR003598 IPR013151 IPR011009 IPR000719 IPR017441 IPR027263 IPR001245 IPR008266 IPR020635 IPR016243 IPR001824
Prosite:	PS50835 PS00107 PS50011 PS00109 PS00240
Pfam:	PF00047 PF07714
PDB:	1PKG 1QZJ 1QZK 1R01 1T45 1T46 2E9W 2EC8 2IUH 2VIF 3G0E 3G0F 4HVS 4K94 4K9E 4PGZ 4U0I
PDBsum:	1PKG 1QZJ 1QZK 1R01 1T45 1T46 2E9W 2EC8 2IUH 2VIF 3G0E 3G0F 4HVS 4K94 4K9E 4PGZ 4U0I
DIP:	1055
MINT:	146746
STRING:	ENSP00000288135;

Other Databases

GeneCards: KIT; Malacards: KIT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000165	MAPK cascade	TAS	biological_process
GO:0000187	activation of MAPK activi ty	IDA	biological_process
GO:0001541	ovarian follicle developm ent	ISS	biological_process
GO:0001669	acrosomal vesicle	IEA	cellular_component
GO:0002020	protease binding	IEA	molecular_function
GO:0002318	myeloid progenitor cell d ifferentiation	IEA	biological_process
GO:0002320	lymphoid progenitor cell differentiation	IEA	biological_process
GO:0002327	immature B cell different iation	ISS	biological_process
GO:0002371	dendritic cell cytokine p roduction	ISS	biological_process
GO:0002551	mast cell chemotaxis	IDA	biological_process
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004714	transmembrane receptor pr otein tyrosine kinase act ivity	IDA	molecular_function
GO:0004716	signal transducer, downst ream of receptor, with pr otein tyrosine kinase act ivity	IEA	molecular_function
GO:0005020	stem cell factor receptor activity	IEA	molecular_function
GO:0005088	Ras guanyl-nucleotide exc hange factor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005911	cell-cell junction	IEA	cellular_component
GO:0006687	glycosphingolipid metabol ic process	IEA	biological_process
GO:0006954	inflammatory response	ISS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007283	spermatogenesis	ISS	biological_process
GO:0007283	spermatogenesis	TAS	biological_process
GO:0007286	spermatid development	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008354	germ cell migration	IEA	biological_process
GO:0008360	regulation of cell shape	ISS	biological_process
GO:0008542	visual learning	IEA	biological_process
GO:0008584	male gonad development	IEP	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009898	cytoplasmic side of plasm a membrane	IEA	cellular_component
GO:0010863	positive regulation of ph ospholipase C activity	TAS	biological_process
GO:0014066	regulation of phosphatidy linositol 3-kinase signal ing	TAS	biological_process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	TAS	biological_process
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0018108	peptidyl-tyrosine phospho rylation	IDA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IDA	biological_process
GO:0019827	stem cell population main tenance	TAS	biological_process
GO:0019955	cytokine binding	IDA	molecular_function
GO:0030032	lamellipodium assembly	ISS	biological_process
GO:0030097	hemopoiesis	TAS	biological_process
GO:0030217	T cell differentiation	ISS	biological_process
GO:0030218	erythrocyte differentiati on	ISS	biological_process
GO:0030318	melanocyte differentiatio n	ISS	biological_process
GO:0030318	melanocyte differentiatio n	TAS	biological_process
GO:0030335	positive regulation of ce ll migration	IEA	biological_process
GO:0031274	positive regulation of ps eudopodium assembly	IEA	biological_process
GO:0031532	actin cytoskeleton reorga nization	IDA	biological_process
GO:0032762	mast cell cytokine produc tion	IDA	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IEA	biological_process
GO:0035162	embryonic hemopoiesis	ISS	biological_process
GO:0035234	ectopic germ cell program med cell death	IEA	biological_process
GO:0035701	hematopoietic stem cell m igration	IEA	biological_process
GO:0035855	megakaryocyte development	ISS	biological_process
GO:0038093	Fc receptor signaling pat hway	IDA	biological_process
GO:0038109	Kit signaling pathway	IDA	biological_process
GO:0038162	erythropoietin-mediated s ignaling pathway	ISS	biological_process
GO:0042127	regulation of cell prolif eration	TAS	biological_process
GO:0042127	regulation of cell prolif eration	TAS	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IMP	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IMP	biological_process
GO:0042523	positive regulation of ty rosine phosphorylation of Stat5 protein	IMP	biological_process
GO:0042629	mast cell granule	IEA	cellular_component
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043069	negative regulation of pr ogrammed cell death	IEA	biological_process
GO:0043303	mast cell degranulation	IMP	biological_process
GO:0043410	positive regulation of MA PK cascade	IMP	biological_process
GO:0043473	pigmentation	ISS	biological_process
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0043552	positive regulation of ph osphatidylinositol 3-kina se activity	TAS	biological_process
GO:0045747	positive regulation of No tch signaling pathway	IEA	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	IMP	biological_process
GO:0046777	protein autophosphorylati on	IDA	biological_process
GO:0046854	phosphatidylinositol phos phorylation	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046934	phosphatidylinositol-4,5- bisphosphate 3-kinase act ivity	TAS	molecular_function
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0048070	regulation of development al pigmentation	IEA	biological_process
GO:0048103	somatic stem cell divisio n	IEA	biological_process
GO:0048170	positive regulation of lo ng-term neuronal synaptic plasticity	IEA	biological_process
GO:0048565	digestive tract developme nt	ISS	biological_process
GO:0048863	stem cell differentiation	ISS	biological_process
GO:0050673	epithelial cell prolifera tion	IEA	biological_process
GO:0050910	detection of mechanical s timulus involved in senso ry perception of sound	ISS	biological_process
GO:0051091	positive regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IMP	biological_process
GO:0060326	cell chemotaxis	IDA	biological_process
GO:0060374	mast cell differentiation	ISS	biological_process
GO:0060374	mast cell differentiation	TAS	biological_process
GO:0070662	mast cell proliferation	TAS	biological_process
GO:0097067	cellular response to thyr oid hormone stimulus	IEA	biological_process
GO:0097324	melanocyte migration	ISS	biological_process
GO:0097326	melanocyte adhesion	ISS	biological_process
GO:1905065	positive regulation of va scular smooth muscle cell differentiation	IDA	biological_process
GO:0000165	MAPK cascade	TAS	biological_process
GO:0000166	nucleotide binding	IEA	molecular_function
GO:0000187	activation of MAPK activi ty	IDA	biological_process
GO:0001541	ovarian follicle developm ent	IEA	biological_process
GO:0001541	ovarian follicle developm ent	ISS	biological_process
GO:0001669	acrosomal vesicle	IEA	cellular_component
GO:0002020	protease binding	IEA	molecular_function
GO:0002318	myeloid progenitor cell d ifferentiation	IEA	biological_process
GO:0002320	lymphoid progenitor cell differentiation	IEA	biological_process
GO:0002327	immature B cell different iation	IEA	biological_process
GO:0002327	immature B cell different iation	ISS	biological_process
GO:0002371	dendritic cell cytokine p roduction	IEA	biological_process
GO:0002371	dendritic cell cytokine p roduction	ISS	biological_process
GO:0002551	mast cell chemotaxis	IDA	biological_process
GO:0002573	myeloid leukocyte differe ntiation	IEA	biological_process
GO:0004672	protein kinase activity	IEA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	IEA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	IEA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	IEA	molecular_function
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004714	transmembrane receptor pr otein tyrosine kinase act ivity	IEA	molecular_function
GO:0004714	transmembrane receptor pr otein tyrosine kinase act ivity	IEA	molecular_function
GO:0004714	transmembrane receptor pr otein tyrosine kinase act ivity	IDA	molecular_function
GO:0004716	signal transducer, downst ream of receptor, with pr otein tyrosine kinase act ivity	IEA	molecular_function
GO:0004716	signal transducer, downst ream of receptor, with pr otein tyrosine kinase act ivity	TAS	molecular_function
GO:0005020	stem cell factor receptor activity	IEA	molecular_function
GO:0005088	Ras guanyl-nucleotide exc hange factor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005911	cell-cell junction	IEA	cellular_component
GO:0006468	protein phosphorylation	IEA	biological_process
GO:0006468	protein phosphorylation	IEA	biological_process
GO:0006687	glycosphingolipid metabol ic process	IEA	biological_process
GO:0006954	inflammatory response	IEA	biological_process
GO:0006954	inflammatory response	ISS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007169	transmembrane receptor pr otein tyrosine kinase sig naling pathway	IEA	biological_process
GO:0007283	spermatogenesis	IEA	biological_process
GO:0007283	spermatogenesis	ISS	biological_process
GO:0007283	spermatogenesis	TAS	biological_process
GO:0007286	spermatid development	IEA	biological_process
GO:0008284	positive regulation of ce ll proliferation	IEA	biological_process
GO:0008354	germ cell migration	IEA	biological_process
GO:0008360	regulation of cell shape	IEA	biological_process
GO:0008360	regulation of cell shape	ISS	biological_process
GO:0008542	visual learning	IEA	biological_process
GO:0008584	male gonad development	IEP	biological_process
GO:0009314	response to radiation	IEA	biological_process
GO:0009897	external side of plasma m embrane	IEA	cellular_component
GO:0009898	cytoplasmic side of plasm a membrane	IEA	cellular_component
GO:0009986	cell surface	IEA	cellular_component
GO:0010628	positive regulation of ge ne expression	IEA	biological_process
GO:0010863	positive regulation of ph ospholipase C activity	TAS	biological_process
GO:0014066	regulation of phosphatidy linositol 3-kinase signal ing	TAS	biological_process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	TAS	biological_process
GO:0016020	membrane	IEA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016301	kinase activity	IEA	molecular_function
GO:0016310	phosphorylation	IEA	biological_process
GO:0016740	transferase activity	IEA	molecular_function
GO:0018108	peptidyl-tyrosine phospho rylation	IEA	biological_process
GO:0018108	peptidyl-tyrosine phospho rylation	IDA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IEA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IDA	biological_process
GO:0019827	stem cell population main tenance	TAS	biological_process
GO:0019955	cytokine binding	IEA	molecular_function
GO:0019955	cytokine binding	IDA	molecular_function
GO:0030032	lamellipodium assembly	IEA	biological_process
GO:0030032	lamellipodium assembly	ISS	biological_process
GO:0030097	hemopoiesis	IEA	biological_process
GO:0030097	hemopoiesis	TAS	biological_process
GO:0030217	T cell differentiation	IEA	biological_process
GO:0030217	T cell differentiation	ISS	biological_process
GO:0030218	erythrocyte differentiati on	IEA	biological_process
GO:0030218	erythrocyte differentiati on	ISS	biological_process
GO:0030318	melanocyte differentiatio n	IEA	biological_process
GO:0030318	melanocyte differentiatio n	ISS	biological_process
GO:0030318	melanocyte differentiatio n	TAS	biological_process
GO:0030335	positive regulation of ce ll migration	IEA	biological_process
GO:0031274	positive regulation of ps eudopodium assembly	IEA	biological_process
GO:0031532	actin cytoskeleton reorga nization	IDA	biological_process
GO:0032762	mast cell cytokine produc tion	IDA	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IEA	biological_process
GO:0035162	embryonic hemopoiesis	IEA	biological_process
GO:0035162	embryonic hemopoiesis	ISS	biological_process
GO:0035234	ectopic germ cell program med cell death	IEA	biological_process
GO:0035556	intracellular signal tran sduction	IEA	biological_process
GO:0035701	hematopoietic stem cell m igration	IEA	biological_process
GO:0035855	megakaryocyte development	IEA	biological_process
GO:0035855	megakaryocyte development	ISS	biological_process
GO:0038093	Fc receptor signaling pat hway	IEA	biological_process
GO:0038093	Fc receptor signaling pat hway	IDA	biological_process
GO:0038109	Kit signaling pathway	IEA	biological_process
GO:0038109	Kit signaling pathway	IDA	biological_process
GO:0038162	erythropoietin-mediated s ignaling pathway	IEA	biological_process
GO:0038162	erythropoietin-mediated s ignaling pathway	ISS	biological_process
GO:0042127	regulation of cell prolif eration	TAS	biological_process
GO:0042127	regulation of cell prolif eration	TAS	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IMP	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IMP	biological_process
GO:0042523	positive regulation of ty rosine phosphorylation of Stat5 protein	IMP	biological_process
GO:0042629	mast cell granule	IEA	cellular_component
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043069	negative regulation of pr ogrammed cell death	IEA	biological_process
GO:0043303	mast cell degranulation	IMP	biological_process
GO:0043406	positive regulation of MA P kinase activity	IEA	biological_process
GO:0043410	positive regulation of MA PK cascade	IMP	biological_process
GO:0043473	pigmentation	IEA	biological_process
GO:0043473	pigmentation	ISS	biological_process
GO:0043547	positive regulation of GT Pase activity	IEA	biological_process
GO:0043552	positive regulation of ph osphatidylinositol 3-kina se activity	TAS	biological_process
GO:0045747	positive regulation of No tch signaling pathway	IEA	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	IMP	biological_process
GO:0046777	protein autophosphorylati on	IEA	biological_process
GO:0046777	protein autophosphorylati on	IDA	biological_process
GO:0046854	phosphatidylinositol phos phorylation	IEA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0046934	phosphatidylinositol-4,5- bisphosphate 3-kinase act ivity	TAS	molecular_function
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0048066	developmental pigmentatio n	IEA	biological_process
GO:0048070	regulation of development al pigmentation	IEA	biological_process
GO:0048103	somatic stem cell divisio n	IEA	biological_process
GO:0048170	positive regulation of lo ng-term neuronal synaptic plasticity	IEA	biological_process
GO:0048565	digestive tract developme nt	IEA	biological_process
GO:0048565	digestive tract developme nt	ISS	biological_process
GO:0048863	stem cell differentiation	IEA	biological_process
GO:0048863	stem cell differentiation	ISS	biological_process
GO:0050673	epithelial cell prolifera tion	IEA	biological_process
GO:0050910	detection of mechanical s timulus involved in senso ry perception of sound	IEA	biological_process
GO:0050910	detection of mechanical s timulus involved in senso ry perception of sound	ISS	biological_process
GO:0051091	positive regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IMP	biological_process
GO:0060326	cell chemotaxis	IDA	biological_process
GO:0060374	mast cell differentiation	IEA	biological_process
GO:0060374	mast cell differentiation	ISS	biological_process
GO:0060374	mast cell differentiation	TAS	biological_process
GO:0070662	mast cell proliferation	TAS	biological_process
GO:0097067	cellular response to thyr oid hormone stimulus	IEA	biological_process
GO:0097324	melanocyte migration	IEA	biological_process
GO:0097324	melanocyte migration	ISS	biological_process
GO:0097326	melanocyte adhesion	IEA	biological_process
GO:0097326	melanocyte adhesion	ISS	biological_process
GO:1905065	positive regulation of va scular smooth muscle cell differentiation	IDA	biological_process
GO:0000165	MAPK cascade	TAS	biological_process
GO:0000187	activation of MAPK activi ty	IDA	biological_process
GO:0001541	ovarian follicle developm ent	ISS	biological_process
GO:0002327	immature B cell different iation	ISS	biological_process
GO:0002371	dendritic cell cytokine p roduction	ISS	biological_process
GO:0002551	mast cell chemotaxis	IDA	biological_process
GO:0004713	protein tyrosine kinase a ctivity	TAS	molecular_function
GO:0004714	transmembrane receptor pr otein tyrosine kinase act ivity	IDA	molecular_function
GO:0004716	signal transducer, downst ream of receptor, with pr otein tyrosine kinase act ivity	TAS	molecular_function
GO:0005088	Ras guanyl-nucleotide exc hange factor activity	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0006954	inflammatory response	ISS	biological_process
GO:0007165	signal transduction	TAS	biological_process
GO:0007283	spermatogenesis	ISS	biological_process
GO:0007283	spermatogenesis	TAS	biological_process
GO:0008360	regulation of cell shape	ISS	biological_process
GO:0008584	male gonad development	IEP	biological_process
GO:0010863	positive regulation of ph ospholipase C activity	TAS	biological_process
GO:0014066	regulation of phosphatidy linositol 3-kinase signal ing	TAS	biological_process
GO:0014068	positive regulation of ph osphatidylinositol 3-kina se signaling	TAS	biological_process
GO:0018108	peptidyl-tyrosine phospho rylation	IDA	biological_process
GO:0019221	cytokine-mediated signali ng pathway	IDA	biological_process
GO:0019827	stem cell population main tenance	TAS	biological_process
GO:0019955	cytokine binding	IDA	molecular_function
GO:0030032	lamellipodium assembly	ISS	biological_process
GO:0030097	hemopoiesis	TAS	biological_process
GO:0030217	T cell differentiation	ISS	biological_process
GO:0030218	erythrocyte differentiati on	ISS	biological_process
GO:0030318	melanocyte differentiatio n	ISS	biological_process
GO:0030318	melanocyte differentiatio n	TAS	biological_process
GO:0031532	actin cytoskeleton reorga nization	IDA	biological_process
GO:0032762	mast cell cytokine produc tion	IDA	biological_process
GO:0035162	embryonic hemopoiesis	ISS	biological_process
GO:0035855	megakaryocyte development	ISS	biological_process
GO:0038093	Fc receptor signaling pat hway	IDA	biological_process
GO:0038109	Kit signaling pathway	IDA	biological_process
GO:0038162	erythropoietin-mediated s ignaling pathway	ISS	biological_process
GO:0042127	regulation of cell prolif eration	TAS	biological_process
GO:0042127	regulation of cell prolif eration	TAS	biological_process
GO:0042511	positive regulation of ty rosine phosphorylation of Stat1 protein	IMP	biological_process
GO:0042517	positive regulation of ty rosine phosphorylation of Stat3 protein	IMP	biological_process
GO:0042523	positive regulation of ty rosine phosphorylation of Stat5 protein	IMP	biological_process
GO:0042803	protein homodimerization activity	IPI	molecular_function
GO:0043303	mast cell degranulation	IMP	biological_process
GO:0043410	positive regulation of MA PK cascade	IMP	biological_process
GO:0043473	pigmentation	ISS	biological_process
GO:0043552	positive regulation of ph osphatidylinositol 3-kina se activity	TAS	biological_process
GO:0046427	positive regulation of JA K-STAT cascade	IMP	biological_process
GO:0046777	protein autophosphorylati on	IDA	biological_process
GO:0046934	phosphatidylinositol-4,5- bisphosphate 3-kinase act ivity	TAS	molecular_function
GO:0048015	phosphatidylinositol-medi ated signaling	TAS	biological_process
GO:0048565	digestive tract developme nt	ISS	biological_process
GO:0048863	stem cell differentiation	ISS	biological_process
GO:0050910	detection of mechanical s timulus involved in senso ry perception of sound	ISS	biological_process
GO:0051091	positive regulation of se quence-specific DNA bindi ng transcription factor a ctivity	IMP	biological_process
GO:0060326	cell chemotaxis	IDA	biological_process
GO:0060374	mast cell differentiation	ISS	biological_process
GO:0060374	mast cell differentiation	TAS	biological_process
GO:0070662	mast cell proliferation	TAS	biological_process
GO:0097324	melanocyte migration	ISS	biological_process
GO:0097326	melanocyte adhesion	ISS	biological_process
GO:1905065	positive regulation of va scular smooth muscle cell differentiation	IDA	biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa05224  Breast cancer
hsa04144  Endocytosis
hsa04640  Hematopoietic cell lineage
hsa04072  Phospholipase D signaling pathway
hsa05230  Central carbon metabolism in cancer
hsa05221  Acute myeloid leukemia
hsa04916  Melanogenesis

Diseases

Associated diseases	References
Acute myeloid leukemia	KEGG: H00003, OMIM: 164920
Anaphylaxis	KEGG: H01359
Azoospermia	PMID: 20508065
Cancer	PMID: 16015387
Endometriosis	PMID: 21075367
Gastrotintestinal stromal tumor	KEGG: H01591, OMIM: 164920
Germ cell tumors	OMIM: 164920
Hyperpigmentation	PMID: 11208730
Idiopathic azoospermia	PMID: 12322893
Impaired spermatogenesis	PMID: 20384797
Male infertility	PMID: 16905672
Mast cell disease	OMIM: 164920
Mast cell leukemia	KEGG: H01511
Mastocytosis	PMID: 7479840
Oligozoospermia	PMID: 24083421
Endometriosis	INFBASE15694967
Premature ovarian failure ( POF)	PMID: 12153702

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
21075367	Endometrio sis					oct-4 c-kit	Show abstract
15694967	Endometrio sis			87 (9 women wit h endometriosis , 18 women with out endometrios is, 20 peritone al endometriosi s, 20 ovarian e ndometriosis, 2 0 colorectal en dometriosis)			Show abstract