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

Gene: MAFF

Alternate names for this Gene: U-MAF|hMafF

Gene Summary: The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.1

Description of this Gene: MAF bZIP transcription factor F

Type of Gene: protein-coding

rs2267373 in PLA2G6;MAFF gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2267373 in PLA2G6;MAFF gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

rs4608623 in PLA2G6;MAFF gene and Nevus PMID 19578365 2009 Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi.

rs55951234 in PLA2G6;MAFF gene and Triglycerides measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.