rs319217
This is a intron variant variant in the PPP2R2B gene.
▶Research that mentions this SNP (1)
▶A genetic variant in a PP2A regulatory subunit encoded by the PPP2R2B gene associates with altered breast cancer risk and recurrenceAssociationN=819Alexei Vazquez et al.(2011)· International Journal of Cancer
A genetic variant rs319217 (A/G) in the PPP2R2B gene was associated with altered breast cancer risk, recurrence, and age of diagnosis in 819 Caucasian women. The A allele was associated with better chemotherapy response, lower recurrence risk (OR=1.78, p=0.043; OR=2.39 among chemotherapy-treated patients, p=0.016), later age of cancer diagnosis (3.0 years later, p=0.0069), and longer recurrence-free survival. Multivariate Cox regression showed RR=1.81 for GG genotype carriers versus AA homozygotes (p=0.028).
About PPP2R2B
The product of this gene belongs to the phosphatase 2 regulatory subunit B family. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes a beta isoform of the regulatory subunit B55 subfamily. Defects in this gene cause autosomal dominant spinocerebellar ataxia 12 (SCA12), a disease caused by degeneration of the cerebellum, sometimes involving the brainstem and spinal cord, and in resulting in poor coordination of speech and body movements. Multiple alternatively spliced variants, which encode different isoforms, have been identified for this gene. The 5' UTR of some of these variants includes a CAG trinucleotide repeat sequence (7-28 copies) that can be expanded to 55-78 copies in cases of SCA12. [provided by RefSeq, Jul 2016]
View all PPP2R2B variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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