Gene: PRKCH

Alternate names for this Gene: PKC-L|PKCL|PRKCL|nPKC-eta

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. It is a calcium-independent and phospholipids-dependent protein kinase. It is predominantly expressed in epithelial tissues and has been shown to reside specifically in the cell nucleus. This protein kinase can regulate keratinocyte differentiation by activating the MAP kinase MAPK13 (p38delta)-activated protein kinase cascade that targets CCAAT/enhancer-binding protein alpha (CEBPA). It is also found to mediate the transcription activation of the transglutaminase 1 (TGM1) gene. Mutations in this gene are associated with susceptibility to cerebral infarction.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.1

Description of this Gene: protein kinase C eta

Type of Gene: protein-coding

rs1536014 in PRKCH gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs2230500 in PRKCH gene and Cerebrovascular accident PMID 17206144 2007 A nonsynonymous SNP in PRKCH (protein kinase C eta) increases the risk of cerebral infarction.

rs1957894 in PRKCH gene and Obesity PMID 23563609 2013 Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity.

rs1886467 in PRKCH gene and Respiratory Function Tests PMID 22837378 2012 Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.

rs1957895 in PRKCH gene and Rheumatoid Arthritis PMID 22446963 2012 Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.

PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.

PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

rs1536014 in PRKCH gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs17098663 in PRKCH gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs17098149 in PRKCH gene and Venous Thromboembolism PMID 28203683 2017 Identification of unique venous thromboembolism-susceptibility variants in African-Americans.