HLA-DMB
major histocompatibility complex, class II, DM beta
Summary
HLA-DMB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta (DMB) chain, both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP (class II-associated invariant chain peptide) molecule from the peptide binding site. 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 Variants5 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs188746689 | 6:32,904,025 | A/G | downstream gene variant | — |
| rs77318243 | 6:32,904,039 | T/A | downstream gene variant | — |
| rs571535788 | 6:32,904,714 | G/A | coding sequence variant | — |
| rs6902982 | 6:32,907,881 | A/G | upstream gene variant | — |
| rs3101943 | 6:32,908,752 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.