PLPP3
phospholipid phosphatase 3
Summary
The protein encoded by this gene is a member of the phosphatidic acid phosphatase (PAP) family. PAPs convert phosphatidic acid to diacylglycerol, and function in de novo synthesis of glycerolipids as well as in receptor-activated signal transduction mediated by phospholipase D. This protein is a membrane glycoprotein localized at the cell plasma membrane. It has been shown to actively hydrolyze extracellular lysophosphatidic acid and short-chain phosphatidic acid. The expression of this gene is found to be enhanced by epidermal growth factor in Hela cells. [provided by RefSeq, Mar 2010]
Known Variants25 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs17850456 | 1:56,962,314 | G/A | — | uncertain significance |
| rs1645633505 | 1:56,962,348 | C/T | — | uncertain significance |
| rs17114036 | 1:56,962,821 | A/G | regulatory region variant | — |
| rs72664318 | 1:56,963,627 | A/G | intron variant | — |
| rs17114046 | 1:56,966,350 | A/G | intron variant | — |
| rs56186267 | 1:56,970,418 | C/A | intron variant | — |
| rs775806317 | 1:56,977,787 | C/T | — | uncertain significance |
| rs150738833 | 1:56,977,808 | C/T | — | uncertain significance |
| rs72664332 | 1:56,980,222 | A/C | intron variant | — |
| rs56348932 | 1:56,988,551 | A/C | regulatory region variant | — |
| rs1390388028 | 1:56,989,998 | T/C | — | uncertain significance |
| rs2523228244 | 1:56,990,147 | A/G | — | uncertain significance |
| rs2523228250 | 1:56,990,148 | G/A | — | uncertain significance |
| rs201684971 | 1:56,990,205 | G/A | — | uncertain significance |
| rs751819679 | 1:56,990,207 | T/C | — | uncertain significance |
| rs142369156 | 1:56,990,219 | G/A | — | uncertain significance |
| rs72664341 | 1:56,990,753 | A/C | intron variant | — |
| rs72664353 | 1:57,001,898 | C/T | regulatory region variant | — |
| rs763962988 | 1:57,002,692 | T/G | — | uncertain significance |
| rs1349242578 | 1:57,002,709 | C/T | — | uncertain significance |
| rs72664355 | 1:57,007,791 | T/C | downstream gene variant | — |
| rs56170783 | 1:57,016,131 | A/C | regulatory region variant | — |
| rs7529520 | 1:57,016,477 | C/G | intron variant | — |
| rs1271117158 | 1:57,044,593 | G/A | — | uncertain significance |
| rs2523350588 | 1:57,044,634 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.