ALPP
alkaline phosphatase, placental
Summary
The protein encoded by this gene is an alkaline phosphatase, a metalloenzyme that catalyzes the hydrolysis of phosphoric acid monoesters. It belongs to a multigene family composed of four alkaline phosphatase isoenzymes. The enzyme functions as a homodimer and has a catalytic site containing one magnesium and two zinc ions, which are required for its enzymatic function. One of the main sources of this enzyme is the liver, and thus, it's one of several indicators of liver injury in different clinical conditions. In pregnant women, this protein is primarily expressed in placental and endometrial tissue, however, strong ectopic expression has been detected in ovarian adenocarcinoma, serous cystadenocarcinoma, and other ovarian cancer cells. [provided by RefSeq, Aug 2020]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779810808 | 2:233,243,550 | T/C | — | uncertain significance |
| rs1130335 | 2:233,243,586 | C/T | missense variant | benign |
| rs190656068 | 2:233,243,672 | C/T | — | likely benign |
| rs976994000 | 2:233,243,711 | G/A | — | uncertain significance |
| rs61747708 | 2:233,243,712 | C/T | — | benign |
| rs113323105 | 2:233,243,713 | G/C | — | benign |
| rs200808607 | 2:233,243,737 | G/A | — | uncertain significance |
| rs2469508831 | 2:233,243,792 | G/T | — | uncertain significance |
| rs1130337 | 2:233,243,793 | C/G | — | likely benign |
| rs766177947 | 2:233,243,925 | C/T | — | uncertain significance |
| rs1293688752 | 2:233,243,975 | C/A | — | uncertain significance |
| rs2469509387 | 2:233,243,985 | C/G | — | uncertain significance |
| rs142498652 | 2:233,244,277 | C/G | — | uncertain significance |
| rs376639163 | 2:233,244,289 | A/C | — | uncertain significance |
| rs374101037 | 2:233,244,328 | C/T | — | uncertain significance |
| rs755793283 | 2:233,244,355 | G/C | — | uncertain significance |
| rs772986029 | 2:233,244,368 | T/A | — | uncertain significance |
| rs780847752 | 2:233,244,507 | T/A | — | uncertain significance |
| rs774509069 | 2:233,244,515 | G/T | — | uncertain significance |
| rs772707977 | 2:233,244,516 | C/G | — | uncertain significance |
| rs150558405 | 2:233,244,517 | C/A | — | benign |
| rs1696671270 | 2:233,244,531 | C/T | — | uncertain significance |
| rs763584788 | 2:233,244,536 | G/A | — | uncertain significance |
| rs781093591 | 2:233,244,537 | C/T | — | uncertain significance |
| rs1313047930 | 2:233,244,539 | C/A | — | uncertain significance |
| rs755257870 | 2:233,244,543 | C/A | — | uncertain significance |
| rs142656870 | 2:233,244,551 | C/A | — | uncertain significance |
| rs147926516 | 2:233,244,564 | C/G | — | likely benign |
| rs371349871 | 2:233,244,591 | G/A | — | uncertain significance |
| rs746375137 | 2:233,244,610 | C/G | — | uncertain significance |
| rs138033708 | 2:233,244,614 | G/T | — | uncertain significance |
| rs750382140 | 2:233,244,618 | C/T | — | uncertain significance |
| rs1130345 | 2:233,244,646 | C/T | — | benign |
| rs374484845 | 2:233,244,923 | A/G | — | uncertain significance |
| rs779193102 | 2:233,244,925 | G/A | — | uncertain significance |
| rs1048988 | 2:233,244,930 | G/C | — | benign |
| rs1048989 | 2:233,244,937 | A/G | — | likely benign |
| rs1332636566 | 2:233,244,956 | C/G | — | uncertain significance |
| rs138519491 | 2:233,244,968 | A/G | — | benign |
| rs758856158 | 2:233,244,992 | G/A | — | uncertain significance |
| rs780873937 | 2:233,245,004 | G/A | — | uncertain significance |
| rs2853378 | 2:233,245,026 | G/C | missense variant | — |
| rs201578205 | 2:233,245,046 | G/A | intron variant | — |
| rs746152435 | 2:233,245,133 | G/T | — | uncertain significance |
| rs775672630 | 2:233,245,136 | C/T | — | uncertain significance |
| rs2260309 | 2:233,245,141 | T/C | — | likely benign |
| rs13034594 | 2:233,245,210 | C/T | — | likely benign |
| rs750197275 | 2:233,245,344 | C/A | — | uncertain significance |
| rs199688634 | 2:233,245,460 | C/T | — | benign |
| rs1337421797 | 2:233,245,568 | G/T | — | uncertain significance |
| rs767629430 | 2:233,245,613 | T/C | — | uncertain significance |
| rs1259597183 | 2:233,245,654 | G/C | — | uncertain significance |
| rs143205011 | 2:233,245,982 | G/A | missense variant | — |
| rs150830244 | 2:233,246,011 | T/G | — | uncertain significance |
| rs548067465 | 2:233,246,051 | G/A | — | uncertain significance |
| rs2469514560 | 2:233,246,056 | G/A | — | uncertain significance |
| rs1156949335 | 2:233,246,060 | T/C | — | uncertain significance |
| rs142493383 | 2:233,246,221 | C/T | missense variant | — |
| rs765923696 | 2:233,246,239 | C/T | — | uncertain significance |
| rs1161867157 | 2:233,246,390 | T/G | — | uncertain significance |
| rs759814890 | 2:233,246,404 | G/C | — | uncertain significance |
| rs1398323694 | 2:233,246,415 | C/G | — | uncertain significance |
| rs377067025 | 2:233,246,432 | G/A | — | uncertain significance |
| rs369703872 | 2:233,246,462 | T/C | — | uncertain significance |
| rs1048998 | 2:233,246,473 | C/G | — | uncertain significance |
| rs750716621 | 2:233,246,485 | G/A | — | uncertain significance |
| rs558432787 | 2:233,246,486 | A/G | — | likely benign |
| rs778546015 | 2:233,246,497 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.