Gene: PPP1R14C

Alternate names for this Gene: CPI17-like|KEPI|NY-BR-81

Gene Summary: The degree of protein phosphorylation is regulated by a balance of protein kinase and phosphatase activities. Protein phosphatase-1 (PP1; see MIM 176875) is a signal-transducing phosphatase that influences neuronal activity, protein synthesis, metabolism, muscle contraction, and cell division. PPP1R14C is an inhibitor of PP1 (Liu et al., 2002 [PubMed 11812771]).[supplied by OMIM, Feb 2010]. ##Evidence-Data-START## Transcript exon combination :: AF407165.2, ERR279847.3594.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1968189 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000361131.5/ ENSP00000355260.4 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.1

Description of this Gene: protein phosphatase 1 regulatory inhibitor subunit 14C

Type of Gene: protein-coding

rs76165228 in PPP1R14C gene and Endometrial Carcinoma PMID 30093612 2018 Identification of nine new susceptibility loci for endometrial cancer.

rs3734729 in PPP1R14C gene and Forced expiratory volume function PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.

rs1408505 in PPP1R14C gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs6925743 in PPP1R14C gene and Myopathy PMID 31220337 2019 Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink.

rs3734729 in PPP1R14C gene and Respiratory Function Tests PMID 23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.