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KIT KIT proto-oncogene, receptor tyrosine kinase

Gene ID: 3815, updated on 9-Jan-2022
Gene type: protein coding
Also known as: PBT; SCFR; C-Kit; CD117; MASTC

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Acute myeloid leukemiaSee labs
Cutaneous mastocytosis
MedGen: C1136033OMIM: 154800GeneReviews: Not available
not available
Gastrointestinal stromal tumor
MedGen: C0238198OMIM: 606764GeneReviews: Not available
See labs
Genome-wide association and meta-analysis of bipolar disorder in individuals of European ancestry.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Germ cell tumor of testis
MedGen: C1336708OMIM: 273300GeneReviews: Not available
See labs
Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib.
GeneReviews: Not available
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available
Partial albinism
MedGen: C0080024OMIM: 172800GeneReviews: Not available
See labs
Seventy-five genetic loci influencing the human red blood cell.
GeneReviews: Not available

Genomic context

Location:
4q12
Sequence:
Chromosome: 4; NC_000004.12 (54657957..54740715)
Total number of exons:
21

Links

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