KIT
KIT proto-oncogene receptor tyrosine kinase
3815
-
C-Kit,CD117,PBT,SCFR
This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
The main pathways: Schematic of KIT signaling pathways. The binding of SCF, to the KIT receptor tyrosine kinase results in activation of the MAPK signaling pathway (RAS-RAF-MEK-ERK), the PI3K pathway (PI3K-AKT-mTOR), and the STAT3 pathway. The letter ""K"" within the schema denotes the tyrosine kinase domain.
KIT (also called CD117) is a receptor tyrosine kinase (RTK) expressed on a wide variety of cell types. The ligand for KIT is stem cell factor (SCF). The binding of SCF to the extracellular domain of KIT induces receptor dimerization and activation of downstream signaling pathways, including the PI3K-AKT-mTOR pathway, the RAS-RAF-MEK-ERK pathway, and the signal transducer and activator of transcription 3 (acute-phase response factor), or STAT3, pathway, all of which are involved in mediating pro-growth and pro-survival signals within the cell. Mutant KIT has been implicated in the pathogenesis of several cancers including melanoma, acute leukemia, and gastrointestinal stromal tumor.
Gene | cDNA change | Protein change | Location |
---|---|---|---|
KIT | - | p.C809G | Chromosome 17 |
KIT | - | p.D816E | Chromosome 4 |
KIT | - | p.D816H | Chromosome 17 |
KIT | - | p.D820A | Chromosome 17 |
KIT | - | p.D820E | Chromosome 4 |
KIT | - | p.D820G | Chromosome 17 |
KIT | - | p.D820Y | Chromosome 17 |
KIT | - | p.N822K | Chromosome 17 |
KIT | - | p.S709F | Chromosome 17 |
KIT | - | p.T670E | Chromosome 4 |
KIT | - | p.T670I | Chromosome 17 |
KIT | - | p.V654A | Chromosome 17 |
KIT | - | p.Y823D | Chromosome 17 |
Drug name | Other name | Product name | Type | Groups |
---|---|---|---|---|
Imatinib | Celonib (Celon) / Enliven (Orion) / Glivec (Novartis) / Imatib (Grey Inversiones) / Mesylonib (Miracalus) / Mitinab (Glenmark) / Plivatinib (Pliva) / Shantinib (Shantha) | Gleevec | Small Molecule | Approved |
Ponatinib | - | Iclusig | Small Molecule | Approved |
Regorafenib | - | Stivarga | Small Molecule | Approved |
Sorafenib | - | Nexavar | Small Molecule | Approved |