ANXA4
annexin A4
Summary
Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs542992812 | 2:69,894,150 | C/T | — | — |
| rs554863630 | 2:69,918,239 | C/T | — | — |
| rs147757635 | 2:69,946,594 | C/T | intron variant | — |
| rs56785746 | 2:69,947,373 | C/T | intron variant | — |
| rs13429773 | 2:69,969,133 | G/A | regulatory region variant | — |
| rs4852984 | 2:69,971,317 | G/A | regulatory region variant | — |
| rs7597155 | 2:69,985,435 | G/A | intron variant | — |
| rs566281392 | 2:70,005,306 | G/A | — | — |
| rs377151808 | 2:70,008,705 | T/C | — | uncertain significance |
| rs6546547 | 2:70,012,251 | A/T | intron variant | — |
| rs746248184 | 2:70,015,265 | A/C | — | uncertain significance |
| rs10186725 | 2:70,015,491 | A/G | intron variant | — |
| rs370762736 | 2:70,031,691 | G/A | — | uncertain significance |
| rs377447418 | 2:70,031,704 | G/A | — | uncertain significance |
| rs200730728 | 2:70,031,746 | G/C | — | likely benign |
| rs865798673 | 2:70,033,559 | G/A | — | uncertain significance |
| rs371182766 | 2:70,033,579 | G/C | — | uncertain significance |
| rs2228203 | 2:70,033,584 | C/T | missense variant | — |
| rs772478169 | 2:70,033,590 | C/T | — | uncertain significance |
| rs754917686 | 2:70,035,044 | G/A | — | uncertain significance |
| rs139920396 | 2:70,035,051 | A/G | — | uncertain significance |
| rs374832409 | 2:70,037,726 | A/G | — | uncertain significance |
| rs2465942021 | 2:70,037,732 | G/A | — | uncertain significance |
| rs966088250 | 2:70,037,741 | T/C | — | uncertain significance |
| rs151115675 | 2:70,037,746 | G/T | — | uncertain significance |
| rs769626351 | 2:70,037,791 | G/A | — | uncertain significance |
| rs6546550 | 2:70,038,232 | C/A | — | — |
| rs764622740 | 2:70,039,814 | C/T | — | benign |
| rs575330346 | 2:70,039,824 | G/A | — | likely benign |
| rs762281472 | 2:70,043,315 | A/T | — | uncertain significance |
| rs536375938 | 2:70,045,735 | T/A | — | uncertain significance |
| rs116265883 | 2:70,045,801 | C/T | — | benign |
| rs140302494 | 2:70,046,463 | C/T | — | uncertain significance |
| rs761339655 | 2:70,052,630 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.