• Gene id: 3815

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,
• Gene location: 4q12 (50910734: 50916640)     Exons: 2     NC_000023.11
• 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
• OMIM: 164920

SNPs

rs3819392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54660528G>A
NC_000004.11   g.55526694G>A
NG_007456.1   g.7534G>A|SEQ=[G/A]|GENE=KIT

rs3134885

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54701722A>C
NC_000004.11   g.55567888A>C
NG_007456.1   g.48728A>C|SEQ=[A/C]|GENE=KIT

rs2237012

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000004.12   g.54733832A>G
NC_000004.11   g.55599998A>G
NG_007456.1   g.80838A>G|SEQ=[A/G]|GENE=KIT

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
• 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  IPR036179  IPR013783  IPR003599  IPR003598   IPR013151  IPR011009  IPR000719  IPR017441  IPR027263  IPR001245  IPR008266  IPR020635  IPR001824  
  • Prosite: PS50835 PS00107 PS50011 PS00109 PS00240
  • 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
  • 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 activity	IDA	biological process
GO:0001541	ovarian follicle development	ISS	biological process
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0002020	protease binding	IEA	molecular function
GO:0002318	myeloid progenitor cell differentiation	IEA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IEA	biological process
GO:0002327	immature B cell differentiation	ISS	biological process
GO:0002371	dendritic cell cytokine production	ISS	biological process
GO:0002551	mast cell chemotaxis	IDA	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IDA	molecular function
GO:0004716	signal transducer, downstream of receptor, with protein tyrosine kinase activity	IEA	molecular function
GO:0005020	stem cell factor receptor activity	IEA	molecular function
GO:0005088	Ras guanyl-nucleotide exchange 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 metabolic 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 cell 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 membrane	IEA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0010863	positive regulation of phospholipase C activity	TAS	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0019221	cytokine-mediated signaling pathway	IDA	biological process
GO:0019827	stem cell population maintenance	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 differentiation	ISS	biological process
GO:0030318	melanocyte differentiation	ISS	biological process
GO:0030318	melanocyte differentiation	TAS	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0031274	positive regulation of pseudopodium assembly	IEA	biological process
GO:0031532	actin cytoskeleton reorganization	IDA	biological process
GO:0032762	mast cell cytokine production	IDA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0035162	embryonic hemopoiesis	ISS	biological process
GO:0035234	ectopic germ cell programmed cell death	IEA	biological process
GO:0035701	hematopoietic stem cell migration	IEA	biological process
GO:0035855	megakaryocyte development	ISS	biological process
GO:0038093	Fc receptor signaling pathway	IDA	biological process
GO:0038109	Kit signaling pathway	IDA	biological process
GO:0038162	erythropoietin-mediated signaling pathway	ISS	biological process
GO:0042127	regulation of cell proliferation	TAS	biological process
GO:0042127	regulation of cell proliferation	TAS	biological process
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein	IMP	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IMP	biological process
GO:0042523	positive regulation of tyrosine 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 programmed cell death	IEA	biological process
GO:0043303	mast cell degranulation	IMP	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043473	pigmentation	ISS	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	TAS	biological process
GO:0045747	positive regulation of Notch signaling pathway	IEA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048070	regulation of developmental pigmentation	IEA	biological process
GO:0048103	somatic stem cell division	IEA	biological process
GO:0048170	positive regulation of long-term neuronal synaptic plasticity	IEA	biological process
GO:0048565	digestive tract development	ISS	biological process
GO:0048863	stem cell differentiation	ISS	biological process
GO:0050673	epithelial cell proliferation	IEA	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	ISS	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	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 thyroid hormone stimulus	IEA	biological process
GO:0097324	melanocyte migration	ISS	biological process
GO:0097326	melanocyte adhesion	ISS	biological process
GO:1905065	positive regulation of vascular 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 activity	IDA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0001541	ovarian follicle development	ISS	biological process
GO:0001669	acrosomal vesicle	IEA	cellular component
GO:0002020	protease binding	IEA	molecular function
GO:0002318	myeloid progenitor cell differentiation	IEA	biological process
GO:0002320	lymphoid progenitor cell differentiation	IEA	biological process
GO:0002327	immature B cell differentiation	IEA	biological process
GO:0002327	immature B cell differentiation	ISS	biological process
GO:0002371	dendritic cell cytokine production	IEA	biological process
GO:0002371	dendritic cell cytokine production	ISS	biological process
GO:0002551	mast cell chemotaxis	IDA	biological process
GO:0002573	myeloid leukocyte differentiation	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IDA	molecular function
GO:0004716	signal transducer, downstream of receptor, with protein tyrosine kinase activity	IEA	molecular function
GO:0004716	signal transducer, downstream of receptor, with protein tyrosine kinase activity	TAS	molecular function
GO:0005020	stem cell factor receptor activity	IEA	molecular function
GO:0005088	Ras guanyl-nucleotide exchange 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 metabolic 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 protein tyrosine kinase signaling 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 cell 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 membrane	IEA	cellular component
GO:0009898	cytoplasmic side of plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0010863	positive regulation of phospholipase C activity	TAS	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	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 phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0019221	cytokine-mediated signaling pathway	IEA	biological process
GO:0019221	cytokine-mediated signaling pathway	IDA	biological process
GO:0019827	stem cell population maintenance	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 differentiation	IEA	biological process
GO:0030218	erythrocyte differentiation	ISS	biological process
GO:0030318	melanocyte differentiation	IEA	biological process
GO:0030318	melanocyte differentiation	ISS	biological process
GO:0030318	melanocyte differentiation	TAS	biological process
GO:0030335	positive regulation of cell migration	IEA	biological process
GO:0031274	positive regulation of pseudopodium assembly	IEA	biological process
GO:0031532	actin cytoskeleton reorganization	IDA	biological process
GO:0032762	mast cell cytokine production	IDA	biological process
GO:0035019	somatic stem cell population maintenance	IEA	biological process
GO:0035162	embryonic hemopoiesis	IEA	biological process
GO:0035162	embryonic hemopoiesis	ISS	biological process
GO:0035234	ectopic germ cell programmed cell death	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0035701	hematopoietic stem cell migration	IEA	biological process
GO:0035855	megakaryocyte development	IEA	biological process
GO:0035855	megakaryocyte development	ISS	biological process
GO:0038093	Fc receptor signaling pathway	IEA	biological process
GO:0038093	Fc receptor signaling pathway	IDA	biological process
GO:0038109	Kit signaling pathway	IEA	biological process
GO:0038109	Kit signaling pathway	IDA	biological process
GO:0038162	erythropoietin-mediated signaling pathway	IEA	biological process
GO:0038162	erythropoietin-mediated signaling pathway	ISS	biological process
GO:0042127	regulation of cell proliferation	TAS	biological process
GO:0042127	regulation of cell proliferation	TAS	biological process
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein	IMP	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IMP	biological process
GO:0042523	positive regulation of tyrosine 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 programmed cell death	IEA	biological process
GO:0043303	mast cell degranulation	IMP	biological process
GO:0043406	positive regulation of MAP kinase activity	IEA	biological process
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043473	pigmentation	IEA	biological process
GO:0043473	pigmentation	ISS	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	TAS	biological process
GO:0045747	positive regulation of Notch signaling pathway	IEA	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IMP	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048066	developmental pigmentation	IEA	biological process
GO:0048070	regulation of developmental pigmentation	IEA	biological process
GO:0048103	somatic stem cell division	IEA	biological process
GO:0048170	positive regulation of long-term neuronal synaptic plasticity	IEA	biological process
GO:0048565	digestive tract development	IEA	biological process
GO:0048565	digestive tract development	ISS	biological process
GO:0048863	stem cell differentiation	IEA	biological process
GO:0048863	stem cell differentiation	ISS	biological process
GO:0050673	epithelial cell proliferation	IEA	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IEA	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	ISS	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	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 thyroid 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 vascular smooth muscle cell differentiation	IDA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0000187	activation of MAPK activity	IDA	biological process
GO:0001541	ovarian follicle development	ISS	biological process
GO:0002327	immature B cell differentiation	ISS	biological process
GO:0002371	dendritic cell cytokine production	ISS	biological process
GO:0002551	mast cell chemotaxis	IDA	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IDA	molecular function
GO:0004716	signal transducer, downstream of receptor, with protein tyrosine kinase activity	TAS	molecular function
GO:0005088	Ras guanyl-nucleotide exchange 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 phospholipase C activity	TAS	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0019221	cytokine-mediated signaling pathway	IDA	biological process
GO:0019827	stem cell population maintenance	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 differentiation	ISS	biological process
GO:0030318	melanocyte differentiation	ISS	biological process
GO:0030318	melanocyte differentiation	TAS	biological process
GO:0031532	actin cytoskeleton reorganization	IDA	biological process
GO:0032762	mast cell cytokine production	IDA	biological process
GO:0035162	embryonic hemopoiesis	ISS	biological process
GO:0035855	megakaryocyte development	ISS	biological process
GO:0038093	Fc receptor signaling pathway	IDA	biological process
GO:0038109	Kit signaling pathway	IDA	biological process
GO:0038162	erythropoietin-mediated signaling pathway	ISS	biological process
GO:0042127	regulation of cell proliferation	TAS	biological process
GO:0042127	regulation of cell proliferation	TAS	biological process
GO:0042511	positive regulation of tyrosine phosphorylation of Stat1 protein	IMP	biological process
GO:0042517	positive regulation of tyrosine phosphorylation of Stat3 protein	IMP	biological process
GO:0042523	positive regulation of tyrosine 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 MAPK cascade	IMP	biological process
GO:0043473	pigmentation	ISS	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	TAS	biological process
GO:0046427	positive regulation of JAK-STAT cascade	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048565	digestive tract development	ISS	biological process
GO:0048863	stem cell differentiation	ISS	biological process
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	ISS	biological process
GO:0051091	positive regulation of sequence-specific DNA binding transcription factor activity	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 vascular smooth muscle cell differentiation	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa00020	Citrate cycle
hsa00040	Pentose and glucuronate interconversions
hsa00500	Starch and sucrose metabolism
hsa00190	Oxidative phosphorylation
hsa00140	Steroid hormone biosynthesis
hsa00380	Tryptophan metabolism
hsa03013	RNA transport
hsa04120	Ubiquitin mediated proteolysis
hsa03430	Mismatch repair
hsa04014	Ras signaling pathway
hsa04015	Rap1 signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04151	PI3K-Akt signaling pathway
hsa04640	Hematopoietic cell lineage
hsa04916	Melanogenesis
hsa05200	Pathways in cancer
hsa05230	Central carbon metabolism in cancer
hsa05221	Acute myeloid leukemia
hsa05224	Breast cancer

Diseases

Associated diseases	References
Cancer	GAD: 16015387
Cancer (gastric)	GAD: 18955458
Cancer (gastrointestinal)	GAD: 16135486
Cancer (Hematologic)	GAD: 20112369
Cancer (leukemia)	GAD: 16029447
Cancer (melanoma)	GAD: 19018266
Cancer (myeloid leukemia)	GAD: 19176031
Cancer (pancreatic)	GAD: 19351817
Cancer (stomach)	GAD: 16697720
Cancer (thyroid)	GAD: 19730683
Acute myeloid leukemia	KEGG: H00003
Germ cell tumors	OMIM: 164920
Acute myeloid leukemia	OMIM: 164920
Piebaldism	OMIM: 164920
Gastrointestinal stromal tumor	GAD: 19900103
Anaphylaxis	KEGG: H01359
Bone diseases	GAD: 17487541
Bipolar disorder	GAD: 19416921
Endometriosis	INFBASE: 21075367
Premature ovarian failure (POF)	INFBASE: 12153702
Azoospermia	MIK: 12322893
Oligozoospermia	MIK: 24083421
Male factor infertility	MIK: 16905672
Spermatogenesis defects	MIK: 20384797
Azoospermia	MIK: 20508065
Female infertility	INFBASE: 12153702
Hyperpigmentation	GAD: 11208730
Vitiligo	GAD: 21085187
Mastocytosis	GAD: 7479840
Mast cell disease	KEGG: H01511
Mast cell disease	OMIM: 164920
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with sperm quality	MIK: 20601678
Associated with differentiation of spermatogonia	MIK: 25446031
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Azoospermia	MIK: 20508065
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 20384797
Important for spermaogonial differentiation	MIK: 22056784
Male infertility	MIK: 9935121
Oligospermia	MIK: 24083421
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24083421	Oligospermia	rs3819392 in KIT, rs995030 and rs4474514 in KITLG	Chinese	577 ( 372 patients with idiopathic azoospermia or oligospermia, 205 fertile controls)	Male infertility	KIT KITLG
20508065	Azoospermia				Male infertility
20384797	Impaired spermatogenesis				Male infertility	SCF  c-kit
16905672	Male infertility	rs3819392, rs3134885, rs2237012, rs10506957 and rs995030		632 (167 idiopathic infertile men, 465 unrelated healthy controls)	Male infertility	KIT KITLG
9935121	Male infertility				Male infertility
12322893	Idiopathic azoospermic	c-kit (Y721)		65 idiopathic azoospermic patients	Male infertility	c-kit
20601678	Assocaited with sperm quality				Male infertility
25446031	Associated with differentiation of spermatogonia				Male infertility
22056784	Important for spermaogonial differentiation				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray