Gene: SRC

Alternate names for this Gene: ASV|SRC1|THC6|c-SRC|p60-Src

Gene Summary: 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.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.23

Description of this Gene: SRC proto-oncogene, non-receptor tyrosine kinase

Type of Gene: protein-coding

rs121913314 in SRC gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs754626 in SRC gene and Squamous cell carcinoma PMID 26908436 2016 A Genome-Wide Association Study of Cutaneous Squamous Cell Carcinoma among European Descendants.

rs879255268 in SRC gene and THROMBOCYTOPENIA 6 PMID 26936507 2016 A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.