SRC Chromosome 20
SRC proto-oncogene, non-receptor tyrosine kinase
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What This Gene Does
This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"SH2 domain containing|Src family tyrosine kinases"
Locus Type
gene with protein product
Location
20q11.23
Ensembl
ENSG00000197122
Associated Conditions (6)
Thrombocytopenia 6
Osteoporosis
Primary myelofibrosis
Thrombocytopenia
Colon cancer
advanced
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS879255268 | Health Risk | Likely pathogenic | Thrombocytopenia 6, Osteoporosis, Primary myelofibrosis |
| RS121913314 | Health Risk | Pathogenic | Colon cancer, advanced, Colon cancer |