MICA
MHC class I polypeptide-related sequence A
Summary
This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2596542 | 6:31,366,595 | C/T | downstream gene variant | — |
| rs116285304 | 6:31,368,391 | A/T | regulatory region variant | — |
| rs112142209 | 6:31,368,508 | A/G | coding sequence variant | — |
| rs2596538 | 6:31,368,632 | G/A | regulatory region variant | — |
| rs143499322 | 6:31,369,719 | T/C | downstream gene variant | — |
| rs3763288 | 6:31,370,367 | G/A | regulatory region variant | — |
| rs17200067 | 6:31,370,722 | C/G | — | — |
| rs17200081 | 6:31,371,045 | G/C | — | — |
| rs552207081 | 6:31,371,453 | C/T | — | uncertain significance |
| rs2301747 | 6:31,371,587 | C/G | regulatory region variant | — |
| rs73400359 | 6:31,374,072 | A/T | regulatory region variant | — |
| rs187712860 | 6:31,374,110 | C/G | regulatory region variant | — |
| rs144626001 | 6:31,374,671 | C/T | upstream gene variant | — |
| rs114202986 | 6:31,375,917 | T/C | intron variant | — |
| rs113708600 | 6:31,376,217 | A/C | regulatory region variant | — |
| rs2263314 | 6:31,376,545 | C/T | regulatory region variant | — |
| rs7747161 | 6:31,376,798 | A/T | — | — |
| rs12175489 | 6:31,377,587 | G/C | — | — |
| rs114291795 | 6:31,377,640 | C/G | intron variant | — |
| rs2523496 | 6:31,377,719 | T/A | — | — |
| rs2848715 | 6:31,377,734 | A/G | intron variant | — |
| rs41284511 | 6:31,377,754 | G/A | — | — |
| rs6938453 | 6:31,377,793 | T/A | intron variant | — |
| rs6915999 | 6:31,377,851 | G/T | — | — |
| rs28559870 | 6:31,377,974 | C/T | intron variant | — |
| rs28436034 | 6:31,377,975 | A/C | — | — |
| rs9266806 | 6:31,378,022 | T/G | — | — |
| rs17200109 | 6:31,378,117 | C/T | intron variant | — |
| rs545286032 | 6:31,378,329 | G/A | — | uncertain significance |
| rs757477862 | 6:31,378,334 | C/T | — | uncertain significance |
| rs1063631 | 6:31,378,387 | T/C | synonymous variant | — |
| rs1235103573 | 6:31,378,393 | G/C | — | uncertain significance |
| rs374310176 | 6:31,378,421 | C/T | — | uncertain significance |
| rs1771066338 | 6:31,378,442 | A/G | — | uncertain significance |
| rs181430930 | 6:31,378,575 | G/A | — | likely benign |
| rs17200242 | 6:31,378,650 | C/G | — | — |
| rs2853981 | 6:31,378,768 | A/T | — | — |
| rs1244824627 | 6:31,378,923 | T/C | — | uncertain significance |
| rs1051792 | 6:31,378,977 | G/A | missense variant | — |
| rs1270105030 | 6:31,379,011 | T/C | — | uncertain significance |
| rs41560824 | 6:31,379,043 | A/G | missense variant | — |
| rs2533104889 | 6:31,379,074 | A/G | — | uncertain significance |
| rs1051794 | 6:31,379,109 | G/A | missense variant | — |
| rs41549718 | 6:31,379,118 | G/A | — | likely benign |
| rs530334547 | 6:31,379,119 | T/C | — | uncertain significance |
| rs2853977 | 6:31,379,304 | A/C | — | — |
| rs3828879 | 6:31,379,391 | C/G | — | — |
| rs1140700 | 6:31,379,817 | T/C | — | benign |
| rs41540613 | 6:31,379,840 | G/C | — | benign |
| rs1465390089 | 6:31,379,871 | G/T | — | uncertain significance |
| rs1386966909 | 6:31,379,907 | C/A | — | uncertain significance |
| rs1063635 | 6:31,379,931 | G/A | missense variant | benign |
| rs377047105 | 6:31,379,972 | G/A | — | uncertain significance |
| rs41553616 | 6:31,379,990 | C/G | missense variant | — |
| rs112243036 | 6:31,380,034 | G/A | intron variant | — |
| rs372677694 | 6:31,380,113 | G/A | — | conflicting classifications of pathogenicity |
| rs112253087 | 6:31,380,404 | C/T | intron variant | — |
| rs2256174 | 6:31,380,422 | A/G | intron variant | — |
| rs2256183 | 6:31,380,529 | A/G | intron variant | — |
| rs2256184 | 6:31,380,583 | A/G | intron variant | — |
| rs3132467 | 6:31,380,943 | G/A | intron variant | — |
| rs6934175 | 6:31,380,950 | C/T | intron variant | — |
| rs2853968 | 6:31,381,351 | A/G | intron variant | — |
| rs2256318 | 6:31,381,519 | G/A | intron variant | — |
| rs113901367 | 6:31,382,015 | A/T | intron variant | — |
| rs2853975 | 6:31,382,717 | A/T | intron variant | — |
| rs113015830 | 6:31,383,036 | T/A | 3 prime UTR variant | — |
| rs9266834 | 6:31,383,130 | T/A | downstream gene variant | — |
| rs9266837 | 6:31,383,389 | A/G | downstream gene variant | — |
| rs9266838 | 6:31,383,391 | A/C | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.