rs2503706
This is a coding sequence variant variant in the PRKCZ gene.
▶Research that mentions this SNP (2)
▶Tests of linkage and allelic association between markers in the 1p36 PRKCZ (Protein Kinase C Zeta) gene region and bipolar affective disorderAssociationN=1,205Radhika Kandaswamy et al.(2012)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This fine-mapping study examined genetic markers in the PRKCZ gene on chromosome 1p36 in 600 bipolar disorder patients and 605 controls, following previous linkage studies of this region. Two SNPs (rs3128296, rs2503706) and a microsatellite marker (D1S243) showed significant allelic association with bipolar disorder (P = 0.040, 0.057, and 0.037, respectively). A three-SNP haplotype (rs3128296-rs2503706-rs3128309) was significantly associated with bipolar disorder (empirical P = 0.004). Female-only analysis found stronger associations, suggesting a possible sex-specific effect.
▶Genetic variants in protein kinase C zeta gene and type 2 diabetes risk: a case‐control study of a Chinese Han populationAssociationN=772Lei Qin et al.(2008)· Diabetes/Metabolism Research and Reviews
This case-control study examined six tagging SNPs in the PRKCZ gene (protein kinase C zeta) in 343 Chinese Han type 2 diabetes cases and 429 controls. The rs3753242 TT genotype showed significantly increased T2DM risk (OR = 4.65, 95% CI = 2.25-9.59, p < 0.001), while rs262654 TT conferred protection (OR = 0.50, 95% CI = 0.26-0.97). The TTGCCC haplotype was associated with a 2.19-fold increased diabetes risk.
About PRKCZ
Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
View all PRKCZ variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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