Version: 8.0.0Date: Tue Jan 28 2025
Gene
KIT
- Species
- Homo sapiens
- Symbol
- KIT
- Name
- KIT proto-oncogene, receptor tyrosine kinase
- Synonyms
- C-Kit
- c-Kit protooncogene
- Biotype
- protein coding gene
- Automated Description
- Enables cytokine binding activity; protein homodimerization activity; and transmembrane receptor protein tyrosine kinase activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of signal transduction; and regulation of macromolecule metabolic process. Located in extracellular space; fibrillar center; and plasma membrane. Implicated in several diseases, including gastrointestinal stromal tumor; germ cell cancer (multiple); mastocytosis; piebaldism; and renal cell carcinoma. Biomarker of several diseases, including Hirschsprung's disease; invasive ductal carcinoma; oxyphilic adenoma; reproductive organ cancer (multiple); and urinary system cancer (multiple).
- RGD 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR44170
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr4:54657267...54740783 + (83.52 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.