HLA-DQA2
major histocompatibility complex, class II, DQ alpha 2
Summary
This gene belongs to the HLA class II alpha chain family. The encoded protein forms a heterodimer with a class II beta chain. It is located in intracellular vesicles and plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (B lymphocytes, dendritic cells, macrophages) and are used to present antigenic peptides on the cell surface to be recognized by CD4 T-cells. [provided by RefSeq, Jun 2010]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9276370 | 6:32,707,295 | G/A | — | — |
| rs28371352 | 6:32,708,220 | C/T | upstream gene variant | — |
| rs9461806 | 6:32,710,221 | C/G | — | — |
| rs28371353 | 6:32,710,510 | C/G | intron variant | — |
| rs9276415 | 6:32,710,695 | T/G | intron variant | — |
| rs9276434 | 6:32,712,666 | C/T | intron variant | — |
| rs75289558 | 6:32,712,999 | C/G | — | likely benign |
| rs200936222 | 6:32,713,070 | A/C | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.