KIT
Primary Author(s)*
Brian Davis PhD
Synonyms
"KIT Proto-Oncogene Receptor Tyrosine Kinase"; "V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog"; PBT; "Stem Cell Factor Receptor"; SCFR; "Cellular KIT"; C-Kit; CD117; MASTC
Genomic Location
Cytoband: 4q12
Genomic Coordinates:
chr4:55,524,085-55,606,881(GRCh37/hg19)
chr4:55,524,085-55,606,881(GRCh37/hg19)
Cancer Category/Type
KIT mutations are prevalent in many cancers, including gastrointestinal stromal tumors (90%)[3], genetical tract cancers (22%), haematopoietic and lymphoid cancers (13.8%), Melanomas (7%) (see COSMIC).
Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms
GIST (gastrointestinal stromal tumors)
mast cell disease
Gene Overview
This gene encodes the human homolog of the proto-oncogene c-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Tyrosine-protein kinase that acts as cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in melanogenesis. (adapted from UniProt Description).
Common Alteration Types
Mutaions in Kit are found clustered in the juxtamembrane domain, and the XX doamin and The most common mutations found in KIT occur in the Tyrosine Kinase domain, with the vast majority being at the D816 residue (see COSMIC).
| Copy Number Loss | Copy Number Gain | LOH | Loss-of-Function Mutation | Gain-of-Function Mutation | Translocation/Fusion |
|---|---|---|---|---|---|
| EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X | EXAMPLE: X |
Internal Pages
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External Links
Put your text here - Include as applicable links to: 1) Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2) COSMIC, 3) CIViC, 4) St. Jude ProteinPaint, 5) Precision Medicine Knnowledgebase (Weill Cornell), 6) Cancer Index, 7) OncoKB, 8) My Cancer Genome, 9) UniProt, 10) Pfam, 11) GeneCards, 12) GeneReviews, and 13) Any gene-specific databases.
EXAMPLES
KIT by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
KIT by COSMIC - sequence information, expression, catalogue of mutations
KIT by CIViC - general knowledge and evidence-based variant specific information
KIT by St. Jude ProteinPaint mutational landscape and matched expression data.
KIT by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
KIT by Cancer Index - gene, pathway, publication information matched to cancer type
KIT by OncoKB - mutational landscape, mutation effect, variant classification
KIT by My Cancer Genome - brief gene overview
KIT by UniProt - protein and molecular structure and function
KIT by Pfam - gene and protein structure and function information
KIT by GeneCards - general gene information and summaries
KIT by NCBI Gene - general gene information and summaries
KIT by OMIM - compendium of human genes and genetic phenotypes
KIT by LOVD(3) - Leiden Open Variation Database
KIT by TICdb - database of Translocation breakpoints In Cancer
References
1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
2. Schafer, E.S. . et al. (2015). Molecular Genetics of Acute Lymphoblastic Leukemia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.
3. Rubin B.P et al. (2001). KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res. 61: 8118-21. PMID: 11719439
Notes
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