KIT Gene

HGNC Family	Immunoglobulin superfamily domain containing, Receptor kinases, CD molecules (CD)
Name	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Description	This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an N-terminal extracellular region with five immunoglobulin-like domains, a transmembrane region, and an intracellular tyrosine kinase domain at the C-terminus. Upon activation by its cytokine ligand, stem cell factor (SCF), this protein phosphorylates multiple intracellular proteins that play a role in in the proliferation, differentiation, migration and apoptosis of many cell types and thereby plays an important role in hematopoiesis, stem cell maintenance, gametogenesis, melanogenesis, and in mast cell development, migration and function. This protein can be a membrane-bound or soluble protein. Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous leukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n The KIT receptor tyrosine kinase (also known as c‐Kit) plays multifaceted roles in both normal physiology and in oncogenesis. In gastrointestinal stromal tumors, activating mutations of KIT drive malignant cell growth and signal transduction cascades that can be effectively targeted by kinase inhibitors such as imatinib."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In other settings, KIT expression marks specific progenitor populations: for example, soluble KIT ligand released from bone marrow cells via metalloproteinase‐9 activity mobilizes and directs c‐Kit+ hematopoietic stem/progenitor cells from a quiescent to a proliferative niche"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", while a distinct luminal progenitor population that expresses high levels of c‐Kit is implicated in the early transformation events leading to BRCA1-associated basal breast cancers."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Additionally, in the context of tumor-derived exosomes, the education of bone marrow progenitors to assume a pro-vasculogenic phenotype includes the upregulation of c‐Kit, highlighting a role for KIT in promoting metastatic processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " The stem cell factor (SCF)/c‐Kit pathway further contributes to angiogenic signaling within the central nervous system, as demonstrated by its involvement in activating brain microvascular endothelial cells in glioma progression"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", and in the heart, endogenous c‐Kit+ cardiac progenitor cells preferentially generate endothelial cells, albeit with only minimal direct differentiation into cardiomyocytes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Collectively, these findings underscore KIT’s central role in mediating signals that govern cell proliferation, differentiation, migration, and tissue repair, while also contributing to tumor initiation, progression, and metastasis.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Michael C Heinrich, Christopher L Corless, Anette Duensing, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PDGFRA activating mutations in gastrointestinal stromal tumors."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.1079666"}], "href": "https://doi.org/10.1126/science.1079666"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12522257"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12522257"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Beate Heissig, Koichi Hattori, Sergio Dias, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Recruitment of stem and progenitor cells from the bone marrow niche requires MMP-9 mediated release of kit-ligand."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2002)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0092-8674(02)00754-7"}], "href": "https://doi.org/10.1016/s0092-8674(02"}, {"type": "t", "text": "00754-7) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12062105"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12062105"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Elgene Lim, François Vaillant, Di Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.2000"}], "href": "https://doi.org/10.1038/nm.2000"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19648928"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19648928"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Héctor Peinado, Maša Alečković, Simon Lavotshkin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Melanoma exosomes educate bone marrow progenitor cells toward a pro-metastatic phenotype through MET."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Med (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nm.2753"}], "href": "https://doi.org/10.1038/nm.2753"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22635005"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22635005"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Lixin Sun, Ai-Min Hui, Qin Su, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Neuronal and glioma-derived stem cell factor induces angiogenesis within the brain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Cell (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ccr.2006.03.003"}], "href": "https://doi.org/10.1016/j.ccr.2006.03.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16616334"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16616334"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Jop H van Berlo, Onur Kanisicak, Marjorie Maillet, et al. "}, {"type": "b", "children": [{"type": "t", "text": "c-kit+ cells minimally contribute cardiomyocytes to the heart."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature13309"}], "href": "https://doi.org/10.1038/nature13309"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24805242"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24805242"}]}]}]}
Synonyms	C-KIT, PBT, CD117, SCFR, MASTC
Proteins	KIT_HUMAN
NCBI Gene ID	3815
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

KIT has 17,492 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 137 datasets.

Click the + buttons to view associations for KIT from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

KIT Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by KIT gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KIT gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of KIT gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of KIT gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of KIT gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of KIT gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of KIT gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving KIT protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of KIT gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KIT gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of KIT gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of KIT gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of KIT gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of KIT gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with KIT gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with KIT gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of KIT gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of KIT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of KIT gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with KIT gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with KIT gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of KIT gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing KIT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing KIT protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with KIT protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with KIT protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of KIT gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with KIT gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with KIT gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with KIT gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by KIT gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DEPOD Substrates of Phosphatases	phosphatases that dephosphorylate KIT protein from the curated DEPOD Substrates of Phosphatases dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving KIT gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving KIT gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with KIT gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with KIT gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with KIT gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with KIT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with KIT gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for KIT protein from the curated DrugBank Drug Targets dataset.