UBAC2
UBA domain containing 2
Summary
Predicted to enable serine-type endopeptidase activity. Involved in negative regulation of canonical Wnt signaling pathway and negative regulation of retrograde protein transport, ER to cytosol. Acts upstream of or within protein localization to endoplasmic reticulum. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants30 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9557177 | 13:99,857,984 | T/C | coding sequence variant | — |
| rs7139964 | 13:99,870,214 | G/A | upstream gene variant | — |
| rs9513584 | 13:99,876,281 | G/A | intron variant | — |
| rs7332672 | 13:99,877,471 | C/T | regulatory region variant | — |
| rs752611174 | 13:99,890,723 | C/T | — | uncertain significance |
| rs147851454 | 13:99,890,725 | C/T | — | benign |
| rs200763660 | 13:99,890,740 | G/A | — | uncertain significance |
| rs1401122721 | 13:99,890,772 | T/C | — | likely benign |
| rs2502966809 | 13:99,890,783 | T/C | — | uncertain significance |
| rs9557181 | 13:99,894,159 | C/T | — | — |
| rs758887216 | 13:99,896,100 | A/G | — | uncertain significance |
| rs201712233 | 13:99,896,821 | T/C | — | uncertain significance |
| rs9517668 | 13:99,923,840 | T/C | — | — |
| rs7999348 | 13:99,932,922 | G/T | — | — |
| rs7336872 | 13:99,939,901 | T/C | — | — |
| rs758304848 | 13:99,966,428 | C/T | — | uncertain significance |
| rs9517686 | 13:99,977,752 | G/A | regulatory region variant | — |
| rs59186511 | 13:99,986,238 | C/T | intron variant | — |
| rs2503171728 | 13:99,992,642 | G/A | — | uncertain significance |
| rs781765000 | 13:99,992,651 | C/A | — | uncertain significance |
| rs200720452 | 13:99,992,697 | A/G | — | likely benign |
| rs1327621508 | 13:99,992,728 | T/C | — | uncertain significance |
| rs11551501 | 13:99,992,760 | C/T | — | likely benign |
| rs150911743 | 13:100,020,110 | G/A | — | uncertain significance |
| rs201880129 | 13:100,020,114 | G/A | — | uncertain significance |
| rs9517701 | 13:100,029,540 | A/T | — | — |
| rs551810881 | 13:100,036,053 | G/A | — | — |
| rs1303520353 | 13:100,037,549 | A/G | — | uncertain significance |
| rs773347902 | 13:100,037,563 | G/A | — | uncertain significance |
| rs775407222 | 13:100,037,570 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.