AP1S2
adaptor related protein complex 1 subunit sigma 2
Summary
Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
Known Variants56 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1355982884 | X:15,845,207 | T/G | — | uncertain significance |
| rs1016898604 | X:15,845,447 | G/A | — | uncertain significance |
| rs2519873300 | X:15,845,449 | T/C | — | likely benign |
| rs1450517180 | X:15,845,451 | T/C | — | likely benign |
| rs2519873316 | X:15,845,458 | C/T | — | uncertain significance |
| rs143031717 | X:15,845,459 | C/T | — | uncertain significance |
| rs1555902009 | X:15,845,500 | G/A | — | likely benign |
| rs1057520872 | X:15,846,332 | G/T | — | likely benign |
| rs3788929 | X:15,863,276 | T/C | — | benign |
| rs798168 | X:15,863,296 | T/C | — | benign |
| rs59216799 | X:15,863,309 | A/G | — | benign |
| rs1288237854 | X:15,863,487 | G/C | — | likely benign |
| rs587777542 | X:15,863,501 | C/A | — | pathogenic |
| rs1006480772 | X:15,863,512 | A/C | — | uncertain significance |
| rs2147318598 | X:15,863,542 | T/A | — | uncertain significance |
| rs2519914292 | X:15,863,561 | G/A | — | pathogenic |
| rs1288830205 | X:15,863,619 | G/A | — | likely benign |
| rs1555904148 | X:15,863,641 | T/C | — | pathogenic |
| rs770199415 | X:15,863,647 | G/A | — | likely benign |
| rs1428407357 | X:15,863,648 | G/A | — | likely benign |
| rs798169 | X:15,863,953 | A/T | — | benign |
| rs587776739 | X:15,864,021 | C/T | — | pathogenic |
| rs2519915767 | X:15,864,025 | C/T | — | pathogenic |
| rs61741688 | X:15,864,026 | A/G | — | likely benign |
| rs2519915841 | X:15,864,055 | C/T | — | uncertain significance |
| rs1050897242 | X:15,864,056 | A/G | — | likely benign |
| rs727503807 | X:15,864,062 | A/G | — | conflicting classifications of pathogenicity |
| rs1399162998 | X:15,864,070 | T/C | — | uncertain significance |
| rs912444495 | X:15,864,074 | C/T | — | uncertain significance |
| rs137852213 | X:15,864,088 | C/A | stop gained | pathogenic |
| rs1933988900 | X:15,864,092 | G/A | — | likely benign |
| rs587776738 | X:15,864,136 | — | — | pathogenic |
| rs1207527571 | X:15,864,152 | T/C | — | likely benign |
| rs889589992 | X:15,870,457 | C/A | — | benign |
| rs2519929420 | X:15,870,466 | T/C | — | uncertain significance |
| rs2519929432 | X:15,870,468 | C/T | — | likely pathogenic |
| rs2519929465 | X:15,870,488 | G/C | — | uncertain significance |
| rs104894735 | X:15,870,494 | G/A | stop gained | pathogenic |
| rs767055780 | X:15,870,498 | C/T | — | likely benign |
| rs376525848 | X:15,870,501 | A/C | — | benign |
| rs2519929560 | X:15,870,529 | G/A | — | uncertain significance |
| rs200944886 | X:15,870,536 | C/T | — | likely benign |
| rs1934206938 | X:15,870,540 | C/T | — | likely benign |
| rs104894739 | X:15,870,542 | G/A | stop gained | pathogenic |
| rs886041964 | X:15,870,556 | — | — | pathogenic |
| rs1251363534 | X:15,870,576 | G/A | — | likely benign |
| rs2519929717 | X:15,870,580 | G/C | — | pathogenic |
| rs1204068080 | X:15,870,585 | T/C | — | likely benign |
| rs2519929746 | X:15,870,594 | C/T | — | pathogenic |
| rs2147328169 | X:15,870,604 | A/C | — | uncertain significance |
| rs1555904878 | X:15,870,608 | G/A | — | pathogenic |
| rs1934209113 | X:15,870,649 | T/C | — | pathogenic |
| rs1060499672 | X:15,870,650 | G/T | — | pathogenic |
| rs113272393 | X:15,872,584 | C/G | — | benign |
| rs1934288587 | X:15,872,810 | C/T | — | pathogenic |
| rs756612753 | X:15,872,822 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.