ANXA2
annexin A2
Summary
This gene encodes a member of the annexin family. Members of this calcium-dependent phospholipid-binding protein family play a role in the regulation of cellular growth and in signal transduction pathways. This protein functions as an autocrine factor which heightens osteoclast formation and bone resorption. This gene has three pseudogenes located on chromosomes 4, 9 and 10, respectively. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. Annexin A2 expression has been found to correlate with resistance to treatment against various cancer forms. [provided by RefSeq, Dec 2019]
Known Variants15 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs73435133 | 15:60,640,338 | G/C | regulatory region variant | — |
| rs913599115 | 15:60,641,358 | C/A | — | uncertain significance |
| rs2505032228 | 15:60,644,624 | T/C | — | uncertain significance |
| rs773518636 | 15:60,648,139 | C/G | — | uncertain significance |
| rs771828399 | 15:60,649,353 | T/A | — | uncertain significance |
| rs2062444755 | 15:60,649,432 | G/T | — | uncertain significance |
| rs17845226 | 15:60,653,205 | C/A | missense variant | benign |
| rs140602805 | 15:60,656,321 | G/A | intron variant | — |
| rs2505105775 | 15:60,656,670 | C/G | — | uncertain significance |
| rs562929223 | 15:60,666,769 | A/T | — | — |
| rs73418020 | 15:60,673,442 | G/A | regulatory region variant | — |
| rs73418025 | 15:60,675,071 | G/A | intron variant | — |
| rs755538492 | 15:60,678,265 | C/T | — | uncertain significance |
| rs1377791 | 15:60,681,139 | C/T | — | — |
| rs72746635 | 15:60,689,589 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.