rs1050244
This is a downstream gene variant variant in the ACP2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Comprehensive pathway‐based interrogation of genetic variations in the nucleotide excision DNA repair pathway and risk of bladder cancerAssociationN=1,606Jinliang Xing et al.(2012)· Cancer
A comprehensive pathway-based case-control study of 803 bladder cancer cases and 803 controls evaluating 207 SNPs in 26 nucleotide excision repair (NER) pathway genes. Seventeen SNPs were significantly associated with bladder cancer risk at P<0.05, with seven retaining noteworthiness by Bayesian false discovery probability. The most significant finding was rs11132186 in ING2 (OR=0.52, 95% CI 0.32-0.83, P=0.005). Four ING2 variants and two DDB2 variants were significantly associated with altered bladder cancer risk, with evidence for gene-smoking and gene-gene interactions.
About ACP2
The protein encoded by this gene belongs to the histidine acid phosphatase family, which hydrolyze orthophosphoric monoesters to alcohol and phosphate. This protein is localized to the lysosomal membrane, and is chemically and genetically distinct from the red cell acid phosphatase. Mice lacking this gene showed multiple defects, including bone structure alterations, lysosomal storage defects, and an increased tendency towards seizures. An enzymatically-inactive allele of this gene in mice showed severe growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternatively spliced transcript variants have been found for this gene. A C-terminally extended isoform is also predicted to be produced by the use of an alternative in-frame translation termination codon via a stop codon readthrough mechanism. [provided by RefSeq, Oct 2017]
View all ACP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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