HLA-DRB1
major histocompatibility complex, class II, DR beta 1
Summary
HLA-DRB1 belongs to the HLA class II beta chain paralogs. The class II molecule is a heterodimer consisting of an alpha (DRA) and a beta chain (DRB), 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. It is encoded by 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. Hundreds of DRB1 alleles have been described and some alleles have increased frequencies associated with certain diseases or conditions. For example, DRB1*1302 has been related to acute and chronic hepatitis B virus persistence. There are multiple pseudogenes of this gene. [provided by RefSeq, Jul 2020]
Known Variants97 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs6910071 | 6:32,282,854 | A/G | intron variant | — |
| rs9268839 | 6:32,460,995 | A/G | intergenic variant | — |
| rs34958200 | 6:32,546,934 | C/A | — | — |
| rs9256938 | 6:32,547,194 | C/G | — | — |
| rs192487435 | 6:32,548,031 | C/T | — | likely benign |
| rs17887154 | 6:32,548,032 | T/G | — | likely benign |
| rs756519999 | 6:32,548,049 | T/C | — | likely pathogenic |
| rs35121789 | 6:32,548,522 | C/G | — | likely benign |
| rs1059362 | 6:32,548,550 | G/T | missense variant | — |
| rs9269771 | 6:32,548,734 | T/C | — | — |
| rs35539407 | 6:32,548,950 | C/T | intron variant | — |
| rs34309628 | 6:32,549,331 | C/T | — | likely benign |
| rs757966595 | 6:32,549,496 | C/T | — | uncertain significance |
| rs707954 | 6:32,549,501 | A/T | missense variant | — |
| rs1561803389 | 6:32,549,503 | G/A | — | likely benign |
| rs1059351 | 6:32,549,540 | C/T | — | likely benign |
| rs200078051 | 6:32,549,584 | C/T | — | likely benign |
| rs148699775 | 6:32,549,592 | G/A | missense variant | — |
| rs17405219 | 6:32,549,607 | T/C | — | uncertain significance |
| rs17882084 | 6:32,549,613 | G/A | stop gained | — |
| rs7745797 | 6:32,550,272 | A/G | — | — |
| rs9269853 | 6:32,550,322 | A/T | — | — |
| rs9269928 | 6:32,551,655 | A/G | — | — |
| rs184050448 | 6:32,551,844 | C/A | intron variant | — |
| rs45542832 | 6:32,551,920 | G/A | — | likely benign |
| rs16822805 | 6:32,551,949 | C/G | — | uncertain significance |
| rs17884749 | 6:32,551,953 | C/A | — | likely benign |
| rs17879599 | 6:32,551,959 | C/T | — | likely benign |
| rs780784592 | 6:32,552,014 | T/A | — | pathogenic |
| rs707957 | 6:32,552,059 | G/T | — | benign |
| rs16822820 | 6:32,552,060 | A/C | missense variant | — |
| rs17882603 | 6:32,552,067 | C/A | missense variant | — |
| rs1059572 | 6:32,552,091 | G/T | — | benign |
| rs1136759 | 6:32,552,131 | C/T | missense variant | — |
| rs9269955 | 6:32,552,138 | G/T | missense variant | — |
| rs9269959 | 6:32,552,144 | A/G | missense variant | — |
| rs9269965 | 6:32,552,219 | A/G | intron variant | — |
| rs11753207 | 6:32,552,448 | A/C | intron variant | — |
| rs9270000 | 6:32,552,740 | G/A | intron variant | — |
| rs9270047 | 6:32,553,697 | T/G | — | — |
| rs375004483 | 6:32,553,996 | T/A | — | — |
| rs536735233 | 6:32,554,034 | T/G | — | — |
| rs374721358 | 6:32,554,048 | C/T | — | — |
| rs545366210 | 6:32,554,079 | T/C | — | — |
| rs9270074 | 6:32,554,129 | T/C | intron variant | — |
| rs9270094 | 6:32,554,445 | G/A | — | — |
| rs4377812 | 6:32,554,702 | T/C | intron variant | — |
| rs35862900 | 6:32,554,941 | C/T | — | — |
| rs1289784088 | 6:32,554,966 | T/A | — | — |
| rs34563311 | 6:32,555,051 | C/T | intron variant | — |
| rs9270139 | 6:32,555,203 | T/G | — | — |
| rs28724141 | 6:32,555,231 | C/T | intron variant | — |
| rs13207809 | 6:32,555,239 | G/C | intron variant | — |
| rs7741969 | 6:32,555,522 | T/C | — | — |
| rs33941037 | 6:32,555,794 | T/C | — | — |
| rs9270186 | 6:32,555,935 | A/G | — | — |
| rs112240819 | 6:32,555,962 | G/C | intron variant | — |
| rs150394154 | 6:32,556,019 | G/A | intron variant | — |
| rs13211585 | 6:32,556,129 | C/G | intron variant | — |
| rs28724212 | 6:32,556,601 | A/G | intron variant | — |
| rs557037162 | 6:32,556,920 | G/T | — | — |
| rs9270270 | 6:32,557,208 | T/A | — | — |
| rs201278923 | 6:32,557,419 | C/G | — | likely benign |
| rs17879746 | 6:32,557,422 | C/T | missense variant | — |
| rs751394570 | 6:32,557,424 | G/A | — | likely benign |
| rs2150822601 | 6:32,557,459 | C/T | — | uncertain significance |
| rs34187469 | 6:32,557,465 | G/A | — | likely benign |
| rs34396110 | 6:32,557,487 | G/A | — | likely benign |
| rs707953 | 6:32,557,506 | T/C | missense variant | — |
| rs201125976 | 6:32,557,510 | G/A | synonymous variant | — |
| rs9270314 | 6:32,557,617 | G/C | — | — |
| rs201175797 | 6:32,557,621 | T/G | — | — |
| rs16822847 | 6:32,557,879 | T/C | — | — |
| rs150130676 | 6:32,558,007 | C/T | regulatory region variant | — |
| rs9270355 | 6:32,558,071 | A/G | upstream gene variant | — |
| rs16822924 | 6:32,558,214 | C/T | upstream gene variant | — |
| rs16822767 | 6:32,558,236 | G/A | — | — |
| rs7757916 | 6:32,558,284 | T/C | upstream gene variant | — |
| rs184318723 | 6:32,558,428 | G/C | upstream gene variant | — |
| rs9270402 | 6:32,558,429 | T/C | upstream gene variant | — |
| rs569726716 | 6:32,558,654 | G/A | — | — |
| rs9270430 | 6:32,558,661 | C/T | — | — |
| rs9270438 | 6:32,558,703 | G/A | upstream gene variant | — |
| rs536078405 | 6:32,558,888 | C/A | — | — |
| rs542010760 | 6:32,558,928 | T/A | — | — |
| rs114939096 | 6:32,558,978 | G/T | upstream gene variant | — |
| rs9270475 | 6:32,559,007 | A/T | upstream gene variant | — |
| rs9270487 | 6:32,559,076 | A/T | — | — |
| rs9270493 | 6:32,559,110 | T/C | upstream gene variant | — |
| rs113399573 | 6:32,559,159 | C/T | upstream gene variant | — |
| rs113282787 | 6:32,559,257 | G/A | — | — |
| rs114258010 | 6:32,559,284 | A/G | upstream gene variant | — |
| rs28366253 | 6:32,559,456 | G/A | — | — |
| rs28366255 | 6:32,559,482 | C/T | upstream gene variant | — |
| rs73729333 | 6:32,559,563 | A/G | upstream gene variant | — |
| rs28366261 | 6:32,559,572 | G/T | — | — |
| rs28366262 | 6:32,559,620 | A/G | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.