ANAPC2
anaphase promoting complex subunit 2
Summary
A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1031147138 | 9:140,069,588 | G/T | — | uncertain significance |
| rs2538688215 | 9:140,069,699 | T/C | — | uncertain significance |
| rs757792195 | 9:140,069,757 | T/C | — | uncertain significance |
| rs1834184643 | 9:140,069,759 | A/G | — | uncertain significance |
| rs1467916635 | 9:140,069,811 | T/C | — | uncertain significance |
| rs150560922 | 9:140,069,814 | C/T | — | uncertain significance |
| rs139583307 | 9:140,069,821 | C/A | — | uncertain significance |
| rs140009201 | 9:140,069,854 | G/A | — | likely benign |
| rs2538688644 | 9:140,069,910 | C/T | — | uncertain significance |
| rs2538689531 | 9:140,070,162 | T/C | — | uncertain significance |
| rs41317010 | 9:140,070,188 | C/T | — | likely benign |
| rs572454732 | 9:140,074,779 | G/A | — | uncertain significance |
| rs1418835089 | 9:140,074,793 | T/C | — | uncertain significance |
| rs146929371 | 9:140,074,799 | C/T | — | uncertain significance |
| rs116545473 | 9:140,075,323 | G/A | — | benign |
| rs763793663 | 9:140,076,136 | G/C | — | uncertain significance |
| rs1048236157 | 9:140,076,213 | C/G | — | uncertain significance |
| rs372127262 | 9:140,077,586 | C/T | — | uncertain significance |
| rs1174821826 | 9:140,077,670 | G/C | — | uncertain significance |
| rs2538702352 | 9:140,077,694 | C/G | — | uncertain significance |
| rs28490558 | 9:140,077,729 | G/A | intron variant | — |
| rs1399996739 | 9:140,078,148 | G/C | — | uncertain significance |
| rs1224640561 | 9:140,079,445 | C/T | — | uncertain significance |
| rs775270889 | 9:140,079,446 | G/A | — | uncertain significance |
| rs758491094 | 9:140,079,469 | G/A | — | uncertain significance |
| rs1260861356 | 9:140,079,511 | C/G | — | uncertain significance |
| rs772054115 | 9:140,079,512 | C/T | — | uncertain significance |
| rs1159939177 | 9:140,080,690 | G/A | — | uncertain significance |
| rs2538708641 | 9:140,080,733 | C/A | — | uncertain significance |
| rs148501048 | 9:140,080,741 | G/A | — | uncertain significance |
| rs1044894128 | 9:140,082,044 | C/T | — | uncertain significance |
| rs540767342 | 9:140,082,219 | C/T | — | likely benign |
| rs759387100 | 9:140,082,230 | C/T | — | uncertain significance |
| rs376664418 | 9:140,082,416 | T/C | — | uncertain significance |
| rs878889078 | 9:140,082,506 | C/T | — | uncertain significance |
| rs200327224 | 9:140,082,906 | C/T | — | uncertain significance |
| rs147593956 | 9:140,082,920 | A/C | — | uncertain significance |
| rs149020460 | 9:140,082,960 | C/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.