PLA2G2A
phospholipase A2 group IIA
Summary
The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty acids and lysophospholipids, and thought to participate in the regulation of the phospholipid metabolism in biomembranes. Several alternatively spliced transcript variants with different 5' UTRs have been found for this gene.[provided by RefSeq, Sep 2009]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34568801 | 1:20,302,201 | C/T | — | benign |
| rs2522933457 | 1:20,302,226 | T/C | — | uncertain significance |
| rs750291388 | 1:20,302,240 | T/A | — | uncertain significance |
| rs749457372 | 1:20,302,316 | T/C | — | uncertain significance |
| rs777744543 | 1:20,304,561 | C/A | — | uncertain significance |
| rs769168214 | 1:20,304,614 | G/A | — | likely benign |
| rs765431164 | 1:20,304,874 | G/A | — | uncertain significance |
| rs146836568 | 1:20,304,900 | C/T | — | likely benign |
| rs4744 | 1:20,304,926 | G/A | — | benign |
| rs2522946717 | 1:20,304,948 | G/A | — | uncertain significance |
| rs2236771 | 1:20,304,962 | C/G | — | benign |
| rs11573162 | 1:20,305,003 | G/A | — | benign |
| rs779631054 | 1:20,305,006 | C/T | — | likely benign |
| rs150999850 | 1:20,305,249 | C/T | — | benign |
| rs11573158 | 1:20,305,763 | G/C | intron variant | — |
| rs11573156 | 1:20,306,146 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.