ANXA5
annexin A5
Summary
The Annexin 5 gene spans 29 kb containing 13 exons, and encodes a single transcript of approximately 1.6 kb and a protein product with a molecular weight of about 35 kDa.The protein encoded by this gene belongs to the annexin family of calcium-dependent phospholipid binding proteins some of which have been implicated in membrane-related events along exocytotic and endocytotic pathways. Annexin 5 is a phospholipase A2 and protein kinase C inhibitory protein with calcium channel activity and a potential role in cellular signal transduction, inflammation, growth and differentiation. Annexin 5 has also been described as placental anticoagulant protein I, vascular anticoagulant-alpha, endonexin II, lipocortin V, placental protein 4 and anchorin CII. Polymorphisms in this gene have been implicated in various obstetric complications. [provided by RefSeq, Dec 2019]
Known Variants36 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs373219000 | 4:122,590,764 | A/G | — | uncertain significance |
| rs17851665 | 4:122,590,824 | A/G | — | likely benign |
| rs146496147 | 4:122,590,846 | C/T | — | uncertain significance |
| rs150126476 | 4:122,591,118 | A/G | — | likely benign |
| rs779278469 | 4:122,592,713 | A/T | — | uncertain significance |
| rs774301700 | 4:122,592,765 | G/C | — | uncertain significance |
| rs1408129429 | 4:122,592,771 | C/G | — | uncertain significance |
| rs141889791 | 4:122,593,711 | C/A | — | uncertain significance |
| rs2476526662 | 4:122,593,738 | T/C | — | uncertain significance |
| rs2476526671 | 4:122,593,750 | C/G | — | uncertain significance |
| rs184897870 | 4:122,595,074 | T/C | intron variant | — |
| rs138817916 | 4:122,599,070 | A/G | — | benign |
| rs748313765 | 4:122,599,613 | T/C | — | uncertain significance |
| rs146310531 | 4:122,599,623 | C/T | — | uncertain significance |
| rs4833229 | 4:122,600,664 | G/A | intron variant | — |
| rs775990327 | 4:122,602,838 | C/G | — | uncertain significance |
| rs199976717 | 4:122,602,879 | A/C | — | uncertain significance |
| rs139497935 | 4:122,604,526 | G/A | — | uncertain significance |
| rs763889812 | 4:122,604,557 | G/A | — | uncertain significance |
| rs144138543 | 4:122,604,562 | G/C | — | uncertain significance |
| rs41278081 | 4:122,604,580 | A/G | — | likely benign |
| rs756431689 | 4:122,605,861 | A/T | — | uncertain significance |
| rs761869455 | 4:122,605,902 | G/A | — | uncertain significance |
| rs55645543 | 4:122,607,178 | T/C | — | — |
| rs770783558 | 4:122,607,459 | C/A | — | uncertain significance |
| rs761166584 | 4:122,607,484 | C/T | — | uncertain significance |
| rs2476539010 | 4:122,607,509 | T/C | — | uncertain significance |
| rs6830321 | 4:122,614,755 | C/T | regulatory region variant | — |
| rs9998908 | 4:122,616,863 | G/C | regulatory region variant | — |
| rs1131239 | 4:122,617,745 | G/A | regulatory region variant | benign |
| rs1338291967 | 4:122,618,116 | C/T | — | no classification for the single variant |
| rs113588187 | 4:122,618,117 | C/T | regulatory region variant | — |
| rs28651243 | 4:122,618,166 | A/G | — | no classification for the single variant |
| rs28717001 | 4:122,618,192 | T/G | — | no classification for the single variant |
| rs112782763 | 4:122,618,211 | C/T | — | no classification for the single variant |
| rs7676539 | 4:122,619,946 | G/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.