KIT KIT proto-oncogene, receptor tyrosine kinase
Gene ID: 3815, updated on 20-Apr-2024Gene type: protein coding
Also known as: PBT; SCFR; C-Kit; CD117; MASTC
- See all available tests in GTR for this gene
- Go to complete Gene record for KIT
- Go to Variation Viewer for KIT variants
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
Description | Tests |
---|---|
Acute myeloid leukemia | See labs |
Cutaneous mastocytosis | See labs |
Gastrointestinal stromal tumor | 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 | 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 | |
Piebaldism | 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
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for KIT variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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