rs1595066
This is a 3 prime utr variant variant in the ERBB4 gene.
▶Research that mentions this SNP (1)
▶MicroRNAs related polymorphisms and genetic susceptibility to esophageal squamous cell carcinomaAssociationN=807Yanhong Qu et al.(2014)· Molecular Genetics and Genomics
Case-control study in Chinese Han population of 381 ESCC cases and 426 controls examining microRNA-related SNPs. Variant rs11614913 (TT genotype) in miR-196a-2 was associated with reduced ESCC risk (OR=0.62, 95% CI: 0.39-0.99), as was rs1595066 (AA genotype) in ErbB4 (OR=0.38, 95% CI: 0.24-0.61). Haplotype analysis identified protective and risk haplotypes in ErbB4 involving rs1595066 and rs16845990. Gene-environment interaction analysis identified family history and smoking as important ESCC risk factors.
About ERBB4
This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a transmembrane domain, a tyrosine kinase domain, a phosphotidylinositol-3 kinase binding site and a PDZ domain binding motif. The protein binds to and is activated by neuregulins and other factors and induces a variety of cellular responses including mitogenesis and differentiation. Multiple proteolytic events allow for the release of a cytoplasmic fragment and an extracellular fragment. Mutations in this gene have been associated with cancer. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
View all ERBB4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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