ASB2
ankyrin repeat and SOCS box containing 2
Summary
This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Known Variants50 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs375068202 | 14:94,401,075 | C/A | — | uncertain significance |
| rs1331652428 | 14:94,401,076 | G/A | — | uncertain significance |
| rs905253804 | 14:94,401,084 | C/A | — | uncertain significance |
| rs372274381 | 14:94,401,096 | C/T | — | uncertain significance |
| rs762879186 | 14:94,401,127 | G/T | — | uncertain significance |
| rs567814586 | 14:94,404,143 | C/T | — | uncertain significance |
| rs146138244 | 14:94,404,144 | G/C | — | uncertain significance |
| rs2503490277 | 14:94,404,149 | T/A | — | uncertain significance |
| rs200328766 | 14:94,405,482 | G/T | — | uncertain significance |
| rs368927735 | 14:94,405,494 | T/C | — | likely benign |
| rs2503497320 | 14:94,405,498 | A/C | — | uncertain significance |
| rs753832207 | 14:94,405,530 | G/T | — | uncertain significance |
| rs1290596939 | 14:94,405,635 | G/T | — | uncertain significance |
| rs755893250 | 14:94,405,681 | C/T | — | uncertain significance |
| rs1315617609 | 14:94,405,712 | G/C | — | uncertain significance |
| rs147776008 | 14:94,405,713 | C/T | — | uncertain significance |
| rs930394408 | 14:94,405,780 | G/T | — | uncertain significance |
| rs573367480 | 14:94,405,822 | A/G | — | uncertain significance |
| rs771406669 | 14:94,405,843 | G/A | — | uncertain significance |
| rs1475283187 | 14:94,405,908 | A/T | — | uncertain significance |
| rs1244826846 | 14:94,405,936 | G/T | — | uncertain significance |
| rs771810059 | 14:94,413,714 | A/G | — | uncertain significance |
| rs138244049 | 14:94,413,728 | G/A | — | uncertain significance |
| rs753162231 | 14:94,413,738 | C/T | — | uncertain significance |
| rs2503535365 | 14:94,413,754 | G/T | — | uncertain significance |
| rs373650942 | 14:94,413,759 | C/T | — | uncertain significance |
| rs750583189 | 14:94,413,834 | C/T | — | uncertain significance |
| rs766477509 | 14:94,417,380 | C/T | — | uncertain significance |
| rs751528643 | 14:94,417,396 | C/G | — | uncertain significance |
| rs756339494 | 14:94,417,435 | C/G | — | uncertain significance |
| rs150157328 | 14:94,417,495 | C/T | — | uncertain significance |
| rs202020276 | 14:94,417,517 | G/T | — | uncertain significance |
| rs148863532 | 14:94,417,540 | C/T | — | uncertain significance |
| rs200411978 | 14:94,417,564 | C/T | — | uncertain significance |
| rs368314093 | 14:94,417,581 | C/T | — | uncertain significance |
| rs2295213 | 14:94,419,710 | G/A | — | uncertain significance |
| rs751138690 | 14:94,419,741 | C/G | — | uncertain significance |
| rs2503563619 | 14:94,419,746 | C/T | — | uncertain significance |
| rs141584945 | 14:94,419,806 | C/T | — | uncertain significance |
| rs375831081 | 14:94,420,665 | C/T | — | likely benign |
| rs1284178693 | 14:94,420,683 | C/T | — | uncertain significance |
| rs2503569401 | 14:94,420,692 | T/C | — | uncertain significance |
| rs200820229 | 14:94,420,747 | C/T | — | uncertain significance |
| rs917670269 | 14:94,420,792 | C/T | — | uncertain significance |
| rs151233739 | 14:94,420,800 | T/C | — | uncertain significance |
| rs2503584572 | 14:94,423,174 | C/T | — | uncertain significance |
| rs199712784 | 14:94,423,176 | T/C | — | uncertain significance |
| rs377036265 | 14:94,423,190 | G/A | — | uncertain significance |
| rs370020819 | 14:94,423,214 | G/A | — | uncertain significance |
| rs45580033 | 14:94,430,711 | G/A | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.