ACYP2
acylphosphatase 2
Summary
Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6545375 | 2:54,208,648 | A/T | intron variant | — |
| rs62139336 | 2:54,212,233 | G/T | — | — |
| rs28653587 | 2:54,219,572 | C/G | intron variant | — |
| rs7564912 | 2:54,222,185 | A/G | intron variant | — |
| rs6746965 | 2:54,223,525 | G/T | — | — |
| rs55692047 | 2:54,235,111 | A/G | intron variant | — |
| rs771207315 | 2:54,253,312 | G/T | — | — |
| rs11898855 | 2:54,255,735 | C/G | downstream gene variant | — |
| rs57552961 | 2:54,269,350 | T/C | — | — |
| rs1363061 | 2:54,284,441 | A/G | — | benign |
| rs10189970 | 2:54,330,360 | A/G | intron variant | — |
| rs2528798662 | 2:54,342,870 | A/T | — | uncertain significance |
| rs9808326 | 2:54,343,108 | G/C | regulatory region variant | — |
| rs6713088 | 2:54,345,469 | C/G | intron variant | — |
| rs1559040 | 2:54,347,750 | C/T | intron variant | — |
| rs138448728 | 2:54,365,802 | A/G | — | uncertain significance |
| rs778625549 | 2:54,365,812 | G/A | — | uncertain significance |
| rs759770768 | 2:54,365,842 | G/A | — | uncertain significance |
| rs1682111 | 2:54,427,979 | A/T | intron variant | — |
| rs843752 | 2:54,446,587 | T/G | intron variant | — |
| rs10439478 | 2:54,459,450 | A/G | — | — |
| rs843645 | 2:54,474,664 | T/G | intron variant | — |
| rs11125529 | 2:54,475,866 | C/A | downstream gene variant | association |
| rs12615793 | 2:54,475,914 | G/A | downstream gene variant | — |
| rs843711 | 2:54,479,117 | C/T | downstream gene variant | — |
| rs11896604 | 2:54,479,199 | C/G | downstream gene variant | — |
| rs843706 | 2:54,480,369 | C/G | — | — |
| rs10165485 | 2:54,481,636 | T/C | regulatory region variant | — |
| rs17045754 | 2:54,496,757 | G/A | — | — |
| rs843720 | 2:54,510,660 | T/G | intron variant | — |
| rs776132856 | 2:54,531,856 | A/T | — | uncertain significance |
| rs748039394 | 2:54,531,862 | C/T | — | uncertain significance |
| rs369937987 | 2:54,531,888 | T/A | — | uncertain significance |
| rs139968799 | 2:54,531,896 | C/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.