rs2239680
This is a protein-altering variant in the BIRC5 gene.
▶Research that mentions this SNP (1)
▶Association of a functional polymorphism in the 3′-untranslated region of SPI1 with systemic lupus erythematosusFunctionalKoki Hikami et al.(2011)· Arthritis & Rheumatism
This computational study developed a novel algorithm to analyze how genetic variants (SNPs and indels) in microRNA binding sites affect miRNA target regulation. The authors analyzed 2,006,524 genetic variants in 3'UTRs from 2,016 genes and 677 validated miRNA-mRNA pairs, identifying 37,999 variants (2%) that could create, disrupt, or modify miRNA target sites. The findings confirm previously reported cancer-associated variants (e.g., rs2239680 increasing lung cancer risk, rs1042538 linked to breast cancer) and identify numerous novel variants potentially worthy of investigation for disease associations.
About BIRC5
This gene is a member of the inhibitor of apoptosis (IAP) gene family, which encode negative regulatory proteins that prevent apoptotic cell death. IAP family members usually contain multiple baculovirus IAP repeat (BIR) domains, but this gene encodes proteins with only a single BIR domain. The encoded proteins also lack a C-terminus RING finger domain. Gene expression is high during fetal development and in most tumors, yet low in adult tissues. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
View all BIRC5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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