ENPP2
ectonucleotide pyrophosphatase/phosphodiesterase 2
Summary
The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2488392427 | 8:120,569,796 | T/C | — | uncertain significance |
| rs61738778 | 8:120,569,823 | A/G | — | likely benign |
| rs759316715 | 8:120,569,870 | C/T | — | uncertain significance |
| rs745564919 | 8:120,575,122 | C/T | — | uncertain significance |
| rs370024218 | 8:120,575,123 | G/A | — | uncertain significance |
| rs775212549 | 8:120,575,137 | A/G | — | uncertain significance |
| rs1191018766 | 8:120,575,207 | T/C | — | uncertain significance |
| rs780717910 | 8:120,575,210 | T/C | — | uncertain significance |
| rs543164471 | 8:120,576,810 | C/T | — | — |
| rs143641618 | 8:120,577,056 | C/T | — | benign |
| rs1378888522 | 8:120,577,076 | C/T | — | uncertain significance |
| rs374259521 | 8:120,577,087 | T/C | — | uncertain significance |
| rs2488434532 | 8:120,577,102 | T/G | — | uncertain significance |
| rs2488456397 | 8:120,581,587 | G/C | — | likely benign |
| rs369390932 | 8:120,583,043 | G/A | — | uncertain significance |
| rs374077888 | 8:120,583,054 | G/T | — | uncertain significance |
| rs998033471 | 8:120,584,422 | T/G | — | uncertain significance |
| rs768719368 | 8:120,592,359 | C/T | — | uncertain significance |
| rs147145968 | 8:120,592,383 | G/A | — | uncertain significance |
| rs2289886 | 8:120,592,406 | T/C | — | benign |
| rs753500207 | 8:120,594,735 | G/C | — | uncertain significance |
| rs754645181 | 8:120,594,750 | C/G | — | uncertain significance |
| rs533864234 | 8:120,594,759 | T/A | — | uncertain significance |
| rs753120756 | 8:120,596,211 | G/T | — | uncertain significance |
| rs7341607 | 8:120,598,351 | G/A | regulatory region variant | — |
| rs143559494 | 8:120,599,311 | G/T | — | uncertain significance |
| rs368155133 | 8:120,606,014 | G/A | — | likely benign |
| rs369796903 | 8:120,606,025 | G/A | — | uncertain significance |
| rs747086548 | 8:120,606,099 | A/G | — | uncertain significance |
| rs201799245 | 8:120,608,123 | C/G | — | uncertain significance |
| rs750515647 | 8:120,608,126 | A/C | — | uncertain significance |
| rs61753745 | 8:120,608,222 | G/A | — | benign |
| rs145333587 | 8:120,608,229 | C/T | — | benign |
| rs576690236 | 8:120,612,922 | G/A | — | uncertain significance |
| rs919610703 | 8:120,612,925 | C/A | — | uncertain significance |
| rs140495261 | 8:120,615,483 | T/A | intron variant | — |
| rs776962188 | 8:120,628,528 | G/A | — | uncertain significance |
| rs1224671586 | 8:120,628,564 | C/A | — | uncertain significance |
| rs1815545859 | 8:120,629,724 | G/T | — | uncertain significance |
| rs1010882945 | 8:120,629,729 | A/T | — | uncertain significance |
| rs777429528 | 8:120,629,744 | T/C | — | uncertain significance |
| rs148588719 | 8:120,629,807 | A/C | — | benign |
| rs2488724909 | 8:120,631,499 | G/A | — | uncertain significance |
| rs748910277 | 8:120,631,505 | T/C | — | uncertain significance |
| rs564718427 | 8:120,631,534 | A/T | — | uncertain significance |
| rs759807131 | 8:120,631,538 | G/A | — | uncertain significance |
| rs7842699 | 8:120,632,987 | T/G | — | — |
| rs201094384 | 8:120,633,687 | T/C | — | uncertain significance |
| rs1815889265 | 8:120,633,697 | G/C | — | uncertain significance |
| rs2488735364 | 8:120,633,714 | T/C | — | uncertain significance |
| rs2488735459 | 8:120,633,729 | C/T | — | uncertain significance |
| rs151027614 | 8:120,633,756 | C/T | — | uncertain significance |
| rs140404753 | 8:120,633,757 | G/A | — | uncertain significance |
| rs28668309 | 8:120,637,534 | T/A | — | — |
| rs750384283 | 8:120,638,880 | C/T | — | uncertain significance |
| rs150370902 | 8:120,638,901 | G/A | — | uncertain significance |
| rs77358867 | 8:120,638,927 | C/T | missense variant | — |
| rs1301732840 | 8:120,638,948 | G/T | — | uncertain significance |
| rs7007970 | 8:120,647,929 | C/G | intron variant | — |
| rs772954841 | 8:120,650,722 | C/T | — | uncertain significance |
| rs142729903 | 8:120,651,005 | A/C | — | uncertain significance |
| rs553487120 | 8:120,653,501 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.