Gene: PRKCA

Alternate names for this Gene: AAG6|PKC-alpha|PKCA|PKCI+/-|PKCalpha|PRKACA

Gene Summary: Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and the second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC family members also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play a distinct role in cells. The protein encoded by this gene is one of the PKC family members. This kinase has been reported to play roles in many different cellular processes, such as cell adhesion, cell transformation, cell cycle checkpoint, and cell volume control. Knockout studies in mice suggest that this kinase may be a fundamental regulator of cardiac contractility and Ca(2+) handling in myocytes.

Gene is located in Chromosome: 17

Location in Chromosome : 17q24.2

Description of this Gene: protein kinase C alpha

Type of Gene: protein-coding

rs9900205 in PRKCA gene and Arthritis, Gouty PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs3889237 in PRKCA gene and Body Height PMID 22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 29782485 2018 Evaluation and application of summary statistic imputation to discover new height-associated loci.

rs9303509 in PRKCA gene and Diastolic blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs74902201 in PRKCA gene and Feeding behaviors PMID 27106561 2016 A genome-wide investigation of food addiction.

rs9900205 in PRKCA gene and Gout PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs9912468 in PRKCA gene and Heart Function Tests PMID 21076409 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.

rs3889237 in PRKCA gene and Height PMID 22021425 2012 Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe).

rs9303509 in PRKCA gene and Mean blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs9912468 in PRKCA gene and QRS complex feature PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.

rs9892651 in PRKCA gene and QT interval feature (observable entity) PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

rs9303509 in PRKCA gene and Systolic Pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs72843902 in PRKCA gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.