PRKCG Chromosome 19

Protein kinase C gamma
53 variants 53 Health Risk

Upload your DNA to see your personal genotypes for variants in PRKCG.

What This Gene Does
Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and 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 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 distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Gene Info
Gene Group
"C2 domain containing protein kinases|Protein kinase C family"
Locus Type
gene with protein product
Location
19q13.42
Ensembl
ENSG00000126583
Associated Conditions (5)
Spinocerebellar ataxia type 14
Inborn genetic diseases
Sarcoma
Autosomal dominant cerebellar ataxia
Hereditary ataxia
Key Variants
RS115736276
Conflicting classifications of pathogenicity
Health Risk
RS1303074743
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
Health Risk
RS1304701232
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
Health Risk
RS1406338491
Conflicting classifications of pathogenicity
Health Risk
RS143513754
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
Health Risk
RS146367309
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149266855
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1599938631
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
Health Risk
RS377593245
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 14, Sarcoma, Spinocerebellar ataxia type 14
Health Risk
RS386134164
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
Health Risk
RS551805527
Conflicting classifications of pathogenicity
Spinocerebellar ataxia type 14, Inborn genetic diseases, Spinocerebellar ataxia type 14
Health Risk
RS749199519
Conflicting classifications of pathogenicity
Inborn genetic diseases, Autosomal dominant cerebellar ataxia, Inborn genetic diseases
Health Risk
All Variants (53)
RSID Category Clinical Significance Conditions
RS115736276 Health Risk Conflicting classifications of pathogenicity —
RS1303074743 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1304701232 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1406338491 Health Risk Conflicting classifications of pathogenicity —
RS143513754 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS146367309 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149266855 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1599938631 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS377593245 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Sarcoma, Spinocerebellar ataxia type 14
RS386134164 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS551805527 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Inborn genetic diseases, Spinocerebellar ataxia type 14
RS749199519 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant cerebellar ataxia, Inborn genetic diseases
RS770016586 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS78437096 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS121918515 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS121918517 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1486368788 Health Risk Likely pathogenic Hereditary ataxia, Hereditary ataxia
RS1555806333 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1599943097 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2068656783 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2068659442 Health Risk Likely pathogenic —
RS2068730966 Health Risk Likely pathogenic —
RS2122976509 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2122988484 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2122988567 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2122988688 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134157 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134158 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134159 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134165 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134166 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134172 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS749266717 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS797045900 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS973767996 Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS121918512 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS121918513 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS121918514 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS121918516 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS121918518 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1555808841 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2122973105 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134160 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134161 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134162 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134163 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134168 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134169 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134170 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS386134171 Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
1 2 Next »
Sign Up to Analyze Your DNA Log In