Gene: PLCH2

Alternate names for this Gene: PLC-L4|PLC-eta2|PLCL4|PLCeta2

Gene Summary: PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009].

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.32

Description of this Gene: phospholipase C eta 2

Type of Gene: protein-coding

rs2477686 in PLCH2 gene and Azoospermia PMID 22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.

rs3762444 in PLCH2 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10910078 in PLCH2 gene and Non-obstructive azoospermia PMID 22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.

PMID 22197933 2011 The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)).

rs4648845 in PLCH2 gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.

PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.