BCAR1 Chromosome 16

BCAR1 scaffold protein, Cas family member
2 variants 2 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]
Gene Info
Gene Group
Cas scaffold protein family
Locus Type
gene with protein product
Location
16q23.1
Ensembl
ENSG00000050820
Associated Conditions (1)
Hereditary breast ovarian cancer syndrome
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS201494574 Health Risk Conflicting classifications of pathogenicity
RS1597262107 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
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