HLA-DRB5
major histocompatibility complex, class II, DR beta 5
Summary
HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DRA) and a beta (DRB) chain, both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells. The beta chain is approximately 26-28 kDa and its gene contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and exon 5 encodes the cytoplasmic tail. Within the DR molecule the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. There are multiple pseudogenes of this gene. [provided by RefSeq, Feb 2020]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115641444 | 6:32,485,062 | C/G | downstream gene variant | — |
| rs112749594 | 6:32,485,397 | G/A | 3 prime UTR variant | — |
| rs151002802 | 6:32,485,410 | G/C | — | — |
| rs114604222 | 6:32,485,623 | A/G | intron variant | — |
| rs199910997 | 6:32,485,655 | A/G | — | — |
| rs559451013 | 6:32,485,704 | T/G | — | — |
| rs201699945 | 6:32,485,856 | T/C | — | benign |
| rs200591586 | 6:32,485,857 | G/A | — | benign |
| rs139547629 | 6:32,485,944 | T/G | intron variant | — |
| rs562241614 | 6:32,486,196 | A/T | — | — |
| rs562007214 | 6:32,486,267 | T/C | — | — |
| rs543783795 | 6:32,486,276 | C/T | — | — |
| rs538569671 | 6:32,486,310 | A/T | — | — |
| rs199682224 | 6:32,486,364 | G/C | synonymous variant | — |
| rs147669022 | 6:32,486,442 | T/A | missense variant | — |
| rs544068844 | 6:32,486,543 | G/A | — | — |
| rs116708952 | 6:32,486,590 | T/G | — | — |
| rs570568436 | 6:32,486,877 | C/A | — | — |
| rs192955957 | 6:32,486,965 | C/A | — | — |
| rs72508429 | 6:32,487,068 | T/G | — | — |
| rs142804168 | 6:32,487,361 | G/A | synonymous variant | — |
| rs202054400 | 6:32,487,397 | C/T | — | likely benign |
| rs771206465 | 6:32,487,418 | C/T | — | likely benign |
| rs2480899185 | 6:32,487,421 | A/G | — | likely benign |
| rs115001626 | 6:32,487,462 | G/T | intron variant | — |
| rs189049184 | 6:32,487,474 | G/A | intron variant | — |
| rs543838540 | 6:32,487,494 | T/G | — | — |
| rs193276748 | 6:32,488,013 | T/G | intron variant | — |
| rs113397282 | 6:32,488,050 | T/C | intron variant | — |
| rs191018606 | 6:32,488,081 | T/A | — | — |
| rs114875775 | 6:32,489,032 | A/T | intron variant | — |
| rs112668737 | 6:32,489,345 | A/T | — | — |
| rs191269336 | 6:32,489,596 | A/T | intron variant | — |
| rs777413325 | 6:32,489,716 | G/A | — | likely benign |
| rs707956 | 6:32,489,856 | C/T | — | benign |
| rs147440497 | 6:32,489,888 | A/G | missense variant | — |
| rs115488695 | 6:32,490,036 | C/T | intron variant | — |
| rs550062535 | 6:32,490,073 | A/G | — | — |
| rs532461268 | 6:32,490,218 | C/T | — | — |
| rs151320068 | 6:32,490,243 | C/T | intron variant | — |
| rs184538485 | 6:32,490,366 | A/C | intron variant | — |
| rs149079064 | 6:32,490,391 | A/T | intron variant | — |
| rs541505856 | 6:32,490,394 | C/T | — | — |
| rs140849564 | 6:32,490,607 | A/G | intron variant | — |
| rs566143951 | 6:32,490,902 | A/G | — | — |
| rs113854881 | 6:32,491,732 | A/G | — | — |
| rs558534039 | 6:32,492,325 | C/G | — | — |
| rs112209031 | 6:32,492,407 | T/G | — | — |
| rs191843781 | 6:32,492,967 | T/G | — | — |
| rs112587821 | 6:32,493,589 | T/G | — | — |
| rs541542451 | 6:32,493,738 | C/A | — | — |
| rs113496464 | 6:32,494,011 | A/C | — | — |
| rs189600472 | 6:32,494,097 | T/A | — | — |
| rs563205344 | 6:32,494,984 | A/T | — | — |
| rs72508457 | 6:32,496,171 | C/A | — | — |
| rs533015777 | 6:32,496,481 | C/T | — | — |
| rs374248993 | 6:32,496,534 | G/C | — | — |
| rs67449961 | 6:32,497,550 | G/A | — | — |
| rs117317282 | 6:32,497,719 | A/G | — | — |
| rs71549220 | 6:32,497,917 | C/A | missense variant | — |
| rs1377460175 | 6:32,497,947 | G/A | — | likely benign |
| rs765098773 | 6:32,497,993 | A/G | — | likely benign |
| rs148451580 | 6:32,498,626 | G/A | upstream gene variant | — |
| rs550127074 | 6:32,499,466 | G/A | — | — |
| rs76846904 | 6:32,499,917 | C/T | upstream gene variant | — |
| rs186325882 | 6:32,499,990 | G/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.