HLA-DQB1
major histocompatibility complex, class II, DQ beta 1
Summary
HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), 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 (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa and it contains six exons. Exon 1 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 DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Known Variants128 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9273375 | 6:32,626,786 | G/T | — | — |
| rs9273379 | 6:32,626,881 | C/A | — | — |
| rs4713572 | 6:32,626,952 | T/C | downstream gene variant | — |
| rs9273384 | 6:32,626,954 | A/T | — | — |
| rs9273386 | 6:32,626,977 | T/A | — | — |
| rs4713573 | 6:32,626,984 | A/C | downstream gene variant | — |
| rs4713575 | 6:32,627,039 | A/G | — | — |
| rs9273390 | 6:32,627,042 | G/C | — | — |
| rs9273391 | 6:32,627,043 | A/G | — | — |
| rs9273401 | 6:32,627,129 | A/G | downstream gene variant | — |
| rs9273402 | 6:32,627,155 | G/C | — | — |
| rs9273410 | 6:32,627,250 | C/A | — | — |
| rs9273411 | 6:32,627,260 | G/A | — | — |
| rs28724233 | 6:32,627,446 | C/A | — | — |
| rs9273429 | 6:32,627,456 | G/A | upstream gene variant | — |
| rs1064173 | 6:32,627,480 | G/T | — | — |
| rs6689 | 6:32,627,700 | A/G | coding sequence variant | — |
| rs1063355 | 6:32,627,714 | T/G | coding sequence variant | — |
| rs1049225 | 6:32,627,747 | A/G | coding sequence variant | — |
| rs1766 | 6:32,627,795 | A/G | coding sequence variant | — |
| rs3210176 | 6:32,627,850 | T/C | coding sequence variant | — |
| rs1130420 | 6:32,627,852 | G/A | coding sequence variant | — |
| rs1063348 | 6:32,627,923 | A/C | — | — |
| rs36205178 | 6:32,627,938 | C/T | regulatory region variant | — |
| rs7656 | 6:32,627,958 | T/C | regulatory region variant | — |
| rs9273479 | 6:32,628,093 | T/G | — | — |
| rs9273484 | 6:32,628,139 | G/T | coding sequence variant | — |
| rs9273487 | 6:32,628,149 | A/C | coding sequence variant | — |
| rs9273492 | 6:32,628,229 | G/A | coding sequence variant | — |
| rs9273501 | 6:32,628,361 | T/A | coding sequence variant | — |
| rs2854275 | 6:32,628,428 | C/A | coding sequence variant | — |
| rs9273542 | 6:32,628,812 | C/A | — | — |
| rs9273550 | 6:32,628,890 | G/A | — | — |
| rs28724235 | 6:32,628,915 | T/C | — | — |
| rs1140343 | 6:32,629,137 | T/C | synonymous variant | — |
| rs9273651 | 6:32,629,199 | T/A | missense variant | — |
| rs3828786 | 6:32,629,259 | T/C | downstream gene variant | — |
| rs9273723 | 6:32,629,346 | T/G | — | — |
| rs9273736 | 6:32,629,372 | G/C | — | — |
| rs9273757 | 6:32,629,417 | G/C | — | — |
| rs41270903 | 6:32,629,497 | A/G | — | — |
| rs9273852 | 6:32,629,603 | T/C | downstream gene variant | — |
| rs1049130 | 6:32,629,859 | A/G | synonymous variant | — |
| rs1049087 | 6:32,629,889 | G/A | synonymous variant | — |
| rs68027833 | 6:32,630,028 | G/C | — | — |
| rs9274079 | 6:32,630,131 | C/T | splice region variant | — |
| rs9274096 | 6:32,630,159 | A/C | coding sequence variant | — |
| rs9274167 | 6:32,630,317 | T/G | downstream gene variant | — |
| rs150231066 | 6:32,630,319 | T/C | downstream gene variant | — |
| rs9274171 | 6:32,630,349 | G/T | downstream gene variant | — |
| rs36174316 | 6:32,630,587 | C/T | downstream gene variant | — |
| rs17613570 | 6:32,630,784 | T/C | downstream gene variant | — |
| rs191548708 | 6:32,630,897 | T/G | — | — |
| rs28724261 | 6:32,630,946 | C/G | — | — |
| rs35986240 | 6:32,630,991 | G/A | — | — |
| rs17613606 | 6:32,631,038 | A/G | downstream gene variant | — |
| rs9274219 | 6:32,631,043 | T/C | downstream gene variant | — |
| rs9274220 | 6:32,631,044 | G/A | downstream gene variant | — |
| rs41270933 | 6:32,631,119 | A/G | downstream gene variant | — |
| rs9274227 | 6:32,631,142 | A/G | downstream gene variant | — |
| rs9274235 | 6:32,631,207 | A/T | downstream gene variant | — |
| rs9274238 | 6:32,631,237 | G/A | downstream gene variant | — |
| rs9274247 | 6:32,631,295 | G/T | — | — |
| rs17613643 | 6:32,631,418 | A/G | downstream gene variant | — |
| rs9274278 | 6:32,631,711 | C/A | — | — |
| rs4538746 | 6:32,632,113 | C/G | — | — |
| rs281874787 | 6:32,632,165 | A/G | downstream gene variant | — |
| rs145244319 | 6:32,632,189 | G/A | regulatory region variant | — |
| rs281862352 | 6:32,632,207 | A/C | — | — |
| rs71542462 | 6:32,632,213 | G/A | — | — |
| rs9274326 | 6:32,632,237 | C/T | regulatory region variant | — |
| rs28746784 | 6:32,632,261 | C/T | regulatory region variant | — |
| rs9274346 | 6:32,632,367 | C/T | — | — |
| rs67842782 | 6:32,632,386 | C/T | regulatory region variant | — |
| rs281862211 | 6:32,632,418 | A/T | — | — |
| rs41263822 | 6:32,632,447 | C/T | — | — |
| rs9274361 | 6:32,632,483 | A/T | — | — |
| rs9274364 | 6:32,632,495 | T/A | — | — |
| rs1130397 | 6:32,632,587 | A/G | synonymous variant | — |
| rs17412833 | 6:32,632,598 | A/T | missense variant | — |
| rs9274384 | 6:32,632,635 | A/G | — | likely benign |
| rs41552812 | 6:32,632,689 | C/T | missense variant | — |
| rs1130380 | 6:32,632,694 | C/A | missense variant | — |
| rs1049068 | 6:32,632,777 | C/T | synonymous variant | — |
| rs1140310 | 6:32,632,783 | A/C | synonymous variant | — |
| rs1130375 | 6:32,632,820 | C/G | missense variant | — |
| rs9274407 | 6:32,632,832 | A/C | missense variant | — |
| rs12722107 | 6:32,632,833 | A/G | missense variant | — |
| rs9274408 | 6:32,632,850 | G/A | splice region variant | — |
| rs74186130 | 6:32,632,859 | C/G | regulatory region variant | — |
| rs201184533 | 6:32,632,887 | C/G | — | — |
| rs281862010 | 6:32,632,890 | C/G | — | — |
| rs74203503 | 6:32,632,973 | T/C | regulatory region variant | — |
| rs28371195 | 6:32,633,051 | C/G | — | — |
| rs28746806 | 6:32,633,065 | A/G | — | — |
| rs28746814 | 6:32,633,247 | C/T | downstream gene variant | — |
| rs9274454 | 6:32,633,371 | T/A | — | — |
| rs9274461 | 6:32,633,425 | T/G | — | — |
| rs9274471 | 6:32,633,632 | A/T | — | — |
| rs9274477 | 6:32,633,713 | A/G | regulatory region variant | — |
Showing 100 of 128 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.