HLA-DOB
major histocompatibility complex, class II, DO beta
Summary
HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). 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. [provided by RefSeq, Jul 2008]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2070120 | 6:32,780,914 | G/A | downstream gene variant | — |
| rs17220087 | 6:32,781,076 | C/G | — | — |
| rs2071479 | 6:32,781,112 | C/T | downstream gene variant | — |
| rs17213693 | 6:32,781,121 | G/C | downstream gene variant | — |
| rs141132227 | 6:32,782,136 | C/T | missense variant | — |
| rs17501267 | 6:32,782,149 | G/A | synonymous variant | — |
| rs7383287 | 6:32,783,086 | A/G | synonymous variant | — |
| rs2071554 | 6:32,784,676 | C/A | missense variant | — |
| rs7742120 | 6:32,785,275 | G/A | downstream gene variant | — |
| rs73410764 | 6:32,785,841 | C/T | downstream gene variant | — |
| rs2157077 | 6:32,785,904 | G/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.