AP2A2
adaptor related protein complex 2 subunit alpha 2
Summary
The protein encoded by this gene is a subunit of the AP-2 adaptor protein complex, which is involved in linking lipid and protein membrane components with the clathrin lattice. This interaction supports the formation of clathrin-coated vesicles, and the encoded subunit aids in the process by binding polyphosphoinositide-containing lipids in the cell membrane. [provided by RefSeq, Nov 2016]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs780978183 | 11:926,026 | C/G | — | uncertain significance |
| rs10751667 | 11:941,941 | A/T | intron variant | — |
| rs200802126 | 11:959,457 | A/C | — | uncertain significance |
| rs1178007291 | 11:959,468 | A/G | — | uncertain significance |
| rs2497272038 | 11:959,496 | A/G | — | uncertain significance |
| rs768893974 | 11:970,207 | G/A | — | uncertain significance |
| rs1306734899 | 11:970,263 | G/A | — | uncertain significance |
| rs765834089 | 11:972,129 | T/C | — | uncertain significance |
| rs763389818 | 11:972,188 | G/T | — | uncertain significance |
| rs769021235 | 11:977,172 | C/T | — | uncertain significance |
| rs769638278 | 11:981,270 | G/A | — | uncertain significance |
| rs2497420597 | 11:981,282 | G/A | — | uncertain significance |
| rs367868093 | 11:985,510 | A/G | — | uncertain significance |
| rs368012774 | 11:985,569 | A/G | — | uncertain significance |
| rs7396366 | 11:986,185 | C/A | intron variant | — |
| rs144441591 | 11:988,619 | A/G | — | likely benign |
| rs1186314591 | 11:992,584 | A/G | — | uncertain significance |
| rs375527476 | 11:993,372 | C/T | — | uncertain significance |
| rs1268454194 | 11:993,756 | C/T | — | uncertain significance |
| rs373171866 | 11:993,803 | G/A | — | uncertain significance |
| rs201859072 | 11:993,817 | G/A | — | likely benign |
| rs767531638 | 11:993,965 | G/A | — | uncertain significance |
| rs1400982964 | 11:994,092 | G/T | — | uncertain significance |
| rs1347716442 | 11:994,097 | C/A | — | uncertain significance |
| rs771801705 | 11:994,180 | A/C | — | uncertain significance |
| rs375976257 | 11:994,184 | G/A | — | uncertain significance |
| rs190263258 | 11:994,497 | C/T | regulatory region variant | — |
| rs117365124 | 11:996,946 | G/A | regulatory region variant | — |
| rs752700478 | 11:1,000,475 | C/A | — | uncertain significance |
| rs1207215366 | 11:1,000,502 | C/G | — | uncertain significance |
| rs570397060 | 11:1,000,510 | G/A | — | uncertain significance |
| rs2493599209 | 11:1,000,568 | T/C | — | uncertain significance |
| rs780653765 | 11:1,000,574 | C/T | — | uncertain significance |
| rs2493623704 | 11:1,006,566 | C/G | — | uncertain significance |
| rs905075104 | 11:1,008,045 | C/T | — | uncertain significance |
| rs1387151636 | 11:1,008,054 | G/C | — | uncertain significance |
| rs902346287 | 11:1,009,146 | C/G | — | uncertain significance |
| rs781145308 | 11:1,009,177 | C/T | — | uncertain significance |
| rs747321729 | 11:1,009,180 | C/G | — | uncertain significance |
| rs201323496 | 11:1,009,207 | A/T | — | uncertain significance |
| rs371017900 | 11:1,009,348 | A/G | — | uncertain significance |
| rs2493642516 | 11:1,009,707 | C/A | — | uncertain significance |
| rs748220772 | 11:1,009,762 | C/T | — | uncertain significance |
| rs773199814 | 11:1,009,777 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.