ADAM22
ADAM metallopeptidase domain 22
Summary
This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]
Known Variants88 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201972241 | 7:87,563,794 | T/G | — | benign |
| rs185661659 | 7:87,563,804 | C/T | — | likely benign |
| rs747812997 | 7:87,563,851 | G/C | — | uncertain significance |
| rs532748835 | 7:87,563,857 | G/A | — | uncertain significance |
| rs148253397 | 7:87,563,874 | G/A | — | benign |
| rs373421461 | 7:87,564,350 | C/T | — | likely benign |
| rs199723886 | 7:87,564,361 | C/T | — | likely benign |
| rs118019617 | 7:87,564,388 | G/A | — | likely benign |
| rs372922125 | 7:87,564,418 | C/T | — | benign |
| rs1021648615 | 7:87,564,452 | G/A | — | uncertain significance |
| rs2535474621 | 7:87,564,482 | G/T | — | uncertain significance |
| rs780652562 | 7:87,564,496 | C/G | — | likely benign |
| rs2279542 | 7:87,564,497 | G/C | — | benign |
| rs560651088 | 7:87,565,087 | C/G | — | — |
| rs111589878 | 7:87,617,087 | A/C | — | — |
| rs7802934 | 7:87,672,045 | C/G | intron variant | — |
| rs4728730 | 7:87,704,972 | C/T | — | benign |
| rs771777317 | 7:87,704,976 | T/C | — | uncertain significance |
| rs760341634 | 7:87,704,984 | G/A | — | uncertain significance |
| rs111428945 | 7:87,704,999 | A/G | — | benign |
| rs1263542923 | 7:87,737,526 | A/G | — | likely benign |
| rs201940790 | 7:87,737,533 | C/T | — | uncertain significance |
| rs1258927537 | 7:87,737,562 | C/T | — | likely benign |
| rs2535490945 | 7:87,743,906 | T/C | — | uncertain significance |
| rs1040797874 | 7:87,743,941 | A/G | — | likely benign |
| rs61753550 | 7:87,746,103 | A/C | — | benign |
| rs182814929 | 7:87,746,111 | T/C | — | likely benign |
| rs17255978 | 7:87,754,915 | G/A | — | benign |
| rs201142062 | 7:87,754,955 | C/G | — | likely benign |
| rs769845941 | 7:87,754,961 | G/T | — | uncertain significance |
| rs61753551 | 7:87,754,974 | G/A | — | likely benign |
| rs12535283 | 7:87,755,451 | C/A | — | — |
| rs1430898121 | 7:87,757,972 | T/C | — | uncertain significance |
| rs558399747 | 7:87,759,724 | G/A | — | uncertain significance |
| rs933735477 | 7:87,759,743 | A/C | — | uncertain significance |
| rs371867819 | 7:87,759,747 | G/A | — | likely benign |
| rs572174500 | 7:87,760,577 | A/G | — | likely benign |
| rs764728429 | 7:87,760,743 | C/T | — | uncertain significance |
| rs370014529 | 7:87,760,750 | C/T | — | uncertain significance |
| rs774714803 | 7:87,763,698 | A/C | — | uncertain significance |
| rs2535817638 | 7:87,763,707 | A/G | — | uncertain significance |
| rs376804868 | 7:87,765,323 | C/T | — | likely benign |
| rs747259064 | 7:87,765,328 | G/A | missense variant | pathogenic |
| rs753484733 | 7:87,772,403 | G/T | — | uncertain significance |
| rs1586162868 | 7:87,774,435 | C/T | — | likely benign |
| rs372937043 | 7:87,774,507 | C/T | — | uncertain significance |
| rs75477749 | 7:87,774,723 | T/G | — | benign |
| rs3761806 | 7:87,774,727 | C/T | — | benign |
| rs371711603 | 7:87,778,284 | C/T | — | likely benign |
| rs376590882 | 7:87,778,351 | G/A | — | likely benign |
| rs148155253 | 7:87,778,380 | A/T | — | benign |
| rs201112125 | 7:87,780,292 | C/T | — | likely benign |
| rs199684808 | 7:87,780,302 | C/A | — | uncertain significance |
| rs76076875 | 7:87,780,346 | G/A | — | benign |
| rs41278764 | 7:87,780,565 | G/A | — | likely benign |
| rs2536165522 | 7:87,782,547 | T/G | — | uncertain significance |
| rs1363191489 | 7:87,782,554 | A/G | — | uncertain significance |
| rs1838987290 | 7:87,782,587 | C/T | — | conflicting classifications of pathogenicity |
| rs752361155 | 7:87,782,597 | T/C | — | likely benign |
| rs771586983 | 7:87,782,621 | A/G | — | likely benign |
| rs2536217837 | 7:87,785,204 | A/C | — | uncertain significance |
| rs757784507 | 7:87,785,230 | A/G | — | uncertain significance |
| rs113535772 | 7:87,785,235 | T/C | — | likely benign |
| rs150557148 | 7:87,785,241 | C/T | — | benign |
| rs2536219648 | 7:87,785,262 | A/C | — | uncertain significance |
| rs371408195 | 7:87,785,265 | C/T | — | benign |
| rs201832352 | 7:87,785,303 | G/A | — | likely benign |
| rs2536221104 | 7:87,785,307 | A/C | — | uncertain significance |
| rs189398829 | 7:87,792,353 | A/T | — | likely benign |
| rs541315761 | 7:87,792,445 | T/C | — | uncertain significance |
| rs192156761 | 7:87,795,223 | A/G | — | likely benign |
| rs2536386387 | 7:87,795,235 | A/C | — | uncertain significance |
| rs2536387121 | 7:87,795,260 | T/A | — | uncertain significance |
| rs1303979077 | 7:87,795,267 | T/C | — | uncertain significance |
| rs776796181 | 7:87,797,509 | C/T | — | uncertain significance |
| rs2536420557 | 7:87,797,511 | C/G | — | uncertain significance |
| rs375592711 | 7:87,797,531 | G/A | — | likely benign |
| rs939683415 | 7:87,797,540 | T/C | — | likely benign |
| rs375078730 | 7:87,800,867 | G/A | — | uncertain significance |
| rs2536561960 | 7:87,808,252 | A/G | — | uncertain significance |
| rs2240467 | 7:87,810,955 | T/C | — | benign |
| rs751815014 | 7:87,811,323 | C/T | — | uncertain significance |
| rs201928330 | 7:87,816,004 | G/A | — | uncertain significance |
| rs775850338 | 7:87,822,474 | A/G | — | uncertain significance |
| rs182800008 | 7:87,822,534 | G/A | — | likely benign |
| rs1262642807 | 7:87,822,540 | C/T | — | pathogenic |
| rs200969340 | 7:87,822,541 | G/A | — | uncertain significance |
| rs2536800069 | 7:87,825,799 | C/T | — | pathogenic |
Gene information from NCBI Gene. Variant classifications from ClinVar.