HLA-B
major histocompatibility complex, class I, B
Summary
HLA-B belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. Class I molecules play a central role in the immune system by presenting peptides derived from the endoplasmic reticulum lumen. They are expressed in nearly all cells. The heavy chain is approximately 45 kDa and its gene contains 8 exons. Exon 1 encodes the leader peptide, exon 2 and 3 encode the alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the transmembrane region and exons 6 and 7 encode the cytoplasmic tail. Polymorphisms within exon 2 and exon 3 are responsible for the peptide binding specificity of each class one molecule. Typing for these polymorphisms is routinely done for bone marrow and kidney transplantation. Hundreds of HLA-B alleles have been described. [provided by RefSeq, Jul 2008]
Known Variants780 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9262570 | 6:31,114,088 | A/G | intergenic | — |
| rs6928038 | 6:31,280,788 | G/A | intergenic | — |
| rs2596500 | 6:31,321,267 | A/C | downstream gene variant | — |
| rs72502570 | 6:31,321,479 | A/G | downstream gene variant | — |
| rs73406410 | 6:31,321,501 | A/G | downstream gene variant | — |
| rs2844584 | 6:31,321,524 | G/C | downstream gene variant | — |
| rs3177747 | 6:31,321,657 | G/A | upstream gene variant | — |
| rs1058026 | 6:31,321,685 | A/C | — | — |
| rs1093 | 6:31,321,906 | A/G | upstream gene variant | — |
| rs1055890 | 6:31,321,915 | A/G | upstream gene variant | — |
| rs1055849 | 6:31,321,916 | A/G | upstream gene variant | — |
| rs117007172 | 6:31,321,917 | G/A | — | — |
| rs1055821 | 6:31,321,919 | G/T | upstream gene variant | — |
| rs1049645 | 6:31,321,922 | G/A | upstream gene variant | — |
| rs1055348 | 6:31,321,948 | T/G | upstream gene variant | — |
| rs1055149 | 6:31,321,958 | G/A | upstream gene variant | — |
| rs71563314 | 6:31,321,961 | G/A | upstream gene variant | — |
| rs151341423 | 6:31,322,004 | T/C | — | — |
| rs1054111 | 6:31,322,026 | C/T | — | — |
| rs1053726 | 6:31,322,047 | A/T | — | — |
| rs111301312 | 6:31,322,108 | T/C | upstream gene variant | — |
| rs2428496 | 6:31,322,121 | C/G | — | — |
| rs151341422 | 6:31,322,125 | G/A | — | — |
| rs17192932 | 6:31,322,129 | C/G | upstream gene variant | — |
| rs3819306 | 6:31,322,133 | A/G | upstream gene variant | — |
| rs151341421 | 6:31,322,137 | A/G | — | — |
| rs17199279 | 6:31,322,143 | C/T | upstream gene variant | — |
| rs3819305 | 6:31,322,144 | C/A | — | — |
| rs151341420 | 6:31,322,154 | A/T | upstream gene variant | — |
| rs13210793 | 6:31,322,174 | C/G | upstream gene variant | — |
| rs2428495 | 6:31,322,175 | C/T | upstream gene variant | — |
| rs2428494 | 6:31,322,197 | T/C | — | — |
| rs151341418 | 6:31,322,205 | A/C | — | — |
| rs151341417 | 6:31,322,206 | C/T | — | — |
| rs9266106 | 6:31,322,209 | A/G | upstream gene variant | — |
| rs151341415 | 6:31,322,210 | C/T | upstream gene variant | — |
| rs137854846 | 6:31,322,211 | C/A | upstream gene variant | — |
| rs151341413 | 6:31,322,215 | A/C | upstream gene variant | — |
| rs151341411 | 6:31,322,216 | G/A | — | — |
| rs9279151 | 6:31,322,217 | — | — | — |
| rs151341409 | 6:31,322,217 | A/G | — | — |
| rs2523610 | 6:31,322,220 | C/G | — | — |
| rs151341404 | 6:31,322,221 | G/C | upstream gene variant | — |
| rs55883829 | 6:31,322,221 | — | — | — |
| rs151341397 | 6:31,322,228 | C/T | upstream gene variant | — |
| rs3819301 | 6:31,322,229 | A/G | upstream gene variant | — |
| rs1582538797 | 6:31,322,275 | C/A | — | likely benign |
| rs2308655 | 6:31,322,303 | C/T | missense variant | — |
| rs41550513 | 6:31,322,316 | A/C | — | — |
| rs3926873 | 6:31,322,340 | G/A | upstream gene variant | — |
| rs41564115 | 6:31,322,351 | G/T | upstream gene variant | — |
| rs3819299 | 6:31,322,367 | T/G | upstream gene variant | — |
| rs41553421 | 6:31,322,385 | C/T | — | — |
| rs17199328 | 6:31,322,395 | A/T | — | — |
| rs2442718 | 6:31,322,402 | C/A | — | — |
| rs151341395 | 6:31,322,453 | A/C | — | — |
| rs2507992 | 6:31,322,459 | T/C | upstream gene variant | — |
| rs2442717 | 6:31,322,470 | C/T | — | — |
| rs3819294 | 6:31,322,487 | G/A | upstream gene variant | — |
| rs2507991 | 6:31,322,513 | A/C | upstream gene variant | — |
| rs3819292 | 6:31,322,522 | C/A | upstream gene variant | — |
| rs41552422 | 6:31,322,529 | G/A | — | — |
| rs2523608 | 6:31,322,559 | G/C | — | — |
| rs41551316 | 6:31,322,578 | G/A | — | — |
| rs41561016 | 6:31,322,611 | C/T | upstream gene variant | — |
| rs3819290 | 6:31,322,662 | G/A | upstream gene variant | — |
| rs61759955 | 6:31,322,678 | A/G | — | — |
| rs2596498 | 6:31,322,688 | T/C | upstream gene variant | — |
| rs41541514 | 6:31,322,689 | C/T | upstream gene variant | — |
| rs41543314 | 6:31,322,690 | A/G | upstream gene variant | — |
| rs41545013 | 6:31,322,691 | A/G | — | — |
| rs3819288 | 6:31,322,694 | T/C | — | — |
| rs17193012 | 6:31,322,703 | C/A | — | — |
| rs2596497 | 6:31,322,704 | A/G | upstream gene variant | — |
| rs13214487 | 6:31,322,706 | C/G | upstream gene variant | — |
| rs41552719 | 6:31,322,707 | C/T | — | — |
| rs3819285 | 6:31,322,742 | G/T | upstream gene variant | — |
| rs41547514 | 6:31,322,756 | T/C | — | — |
| rs13214791 | 6:31,322,762 | G/T | upstream gene variant | — |
| rs7768403 | 6:31,322,766 | C/T | upstream gene variant | — |
| rs3819284 | 6:31,322,767 | G/A | upstream gene variant | — |
| rs144012689 | 6:31,322,780 | T/A | upstream gene variant | — |
| rs2596496 | 6:31,322,782 | C/T | — | — |
| rs2523607 | 6:31,322,790 | T/C | — | — |
| rs17193040 | 6:31,322,803 | G/C | — | — |
| rs41554721 | 6:31,322,849 | G/C | upstream gene variant | — |
| rs41558317 | 6:31,322,850 | A/G | — | — |
| rs3819282 | 6:31,322,855 | C/T | upstream gene variant | — |
| rs41556216 | 6:31,322,885 | T/A | splice region variant | — |
| rs1140546 | 6:31,322,888 | A/T | missense variant | — |
| rs41548215 | 6:31,322,905 | T/C | missense variant | — |
| rs1051488 | 6:31,322,911 | C/T | missense variant | — |
| rs2308518 | 6:31,322,915 | G/A | synonymous variant | benign |
| rs753723124 | 6:31,322,921 | A/G | — | likely benign |
| rs41562715 | 6:31,322,924 | T/G | synonymous variant | — |
| rs41548516 | 6:31,322,925 | C/A | missense variant | — |
| rs61759954 | 6:31,322,926 | C/T | missense variant | — |
| rs2308641 | 6:31,322,927 | G/A | synonymous variant | — |
| rs41562117 | 6:31,322,929 | T/G | missense variant | — |
| rs41542717 | 6:31,322,930 | G/A | synonymous variant | — |
Showing 100 of 780 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.