ART4
ADP-ribosyltransferase 4 (inactive) (Dombrock blood group)
Summary
This gene encodes a protein that contains a mono-ADP-ribosylation (ART) motif. It is a member of the ADP-ribosyltransferase gene family but enzymatic activity has not been demonstrated experimentally. Antigens of the Dombrock blood group system are located on the gene product, which is glycosylphosphatidylinosotol-anchored to the erythrocyte membrane. Allelic variants, some of which lead to adverse transfusion reactions, are known. [provided by RefSeq, Jul 2008]
Known Variants21 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3088190 | 12:14,982,352 | G/C | — | benign |
| rs199781690 | 12:14,982,379 | T/G | — | uncertain significance |
| rs1001096 | 12:14,988,455 | G/A | regulatory region variant | — |
| rs10772808 | 12:14,990,587 | G/A | upstream gene variant | — |
| rs12822851 | 12:14,991,948 | A/G | — | — |
| rs373965433 | 12:14,993,418 | T/C | — | likely benign |
| rs11276 | 12:14,993,439 | C/T | missense variant | benign |
| rs768235727 | 12:14,993,526 | C/T | — | uncertain significance |
| rs3088189 | 12:14,993,608 | G/A | — | benign |
| rs775603761 | 12:14,993,720 | C/G | — | uncertain significance |
| rs1194715928 | 12:14,993,753 | T/C | — | uncertain significance |
| rs56340844 | 12:14,993,790 | G/A | stop gained | affects |
| rs1861698 | 12:14,993,854 | A/G | — | benign |
| rs2497436184 | 12:14,993,981 | G/A | — | uncertain significance |
| rs775874295 | 12:14,994,066 | C/T | — | uncertain significance |
| rs140754622 | 12:14,994,068 | A/G | — | uncertain significance |
| rs587777831 | 12:14,994,089 | T/C | coding sequence variant | affects |
| rs11056202 | 12:14,994,512 | C/G | regulatory region variant | — |
| rs587777833 | 12:14,995,902 | A/G | — | affects |
| rs541830352 | 12:14,995,975 | A/G | — | uncertain significance |
| rs3887182 | 12:14,997,446 | G/A | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.