Gene: PLA2G6

Alternate names for this Gene: CaI-PLA2|GVI|INAD1|IPLA2-VIA|NBIA2|NBIA2A|NBIA2B|PARK14|PLA2|PNPLA9|iPLA2|iPLA2beta

Gene Summary: The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.1

Description of this Gene: phospholipase A2 group VI

Type of Gene: protein-coding

rs5750561 in PLA2G6 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs4820318 in PLA2G6 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs2277844 in PLA2G6 gene and C-reactive protein measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs132985 in PLA2G6 gene and Cutaneous Melanoma PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs133027 in PLA2G6 gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs121908682 in PLA2G6 gene and Infantile Neuroaxonal Dystrophy PMID 16783378 2006 PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

PMID 17033970 2006 PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

PMID 23749988 2013 Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.

PMID 20584031 2010 Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

PMID 19138334 2009 Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

PMID 25326637 2014 Clinical exome sequencing for genetic identification of rare Mendelian disorders.

PMID 22934738 2013 Follow-up study of 25 Chinese children with PLA2G6-associated neurodegeneration.

PMID 20947703 2011 Random mutagenesis of the mouse genome: a strategy for discovering gene function and the molecular basis of disease.

PMID 19893029 2009 Establishment of an improved mouse model for infantile neuroaxonal dystrophy that shows early disease onset and bears a point mutation in Pla2g6.

PMID 24108619 2014 Exome sequencing as a diagnostic tool for pediatric-onset ataxia.

PMID 25164370 2015 Infantile and childhood onset PLA2G6-associated neurodegeneration in a large North African cohort.

PMID 28821231 2017 Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.

rs132985 in PLA2G6 gene and Malignant melanoma of skin of lower limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs132985 in PLA2G6 gene and Malignant melanoma of skin of upper limb PMID 30429480 2018 Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

rs121908681 in PLA2G6 gene and NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) PMID 16783378 2006 PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

rs2284063 in PLA2G6 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs132941 in PLA2G6 gene and Nevus PMID 19578365 2009 Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.

PMID 21478494 2011 Genome-wide association study identifies nidogen 1 (NID1) as a susceptibility locus to cutaneous nevi and melanoma risk.

rs2267370 in PLA2G6 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2267370 in PLA2G6 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs133027 in PLA2G6 gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs3761445 in PLA2G6 gene and body fat percentage (physical finding) PMID 26833246 2016 New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

rs132985 in PLA2G6 gene and melanoma PMID 21706340 2012 A unique genome-wide association analysis in extended Utah high-risk pedigrees identifies a novel melanoma risk variant on chromosome arm 10q.

PMID 19578364 2009 Genome-wide association study identifies three loci associated with melanoma risk.

PMID 28212542 2017 Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.