Entrez gene ID | | 3119 |
Official gene symbol | | HLA-DQB1 |
Full name | | major histocompatibility complex, class II, DQ beta 1 |
Aliases | | ,CELIAC1,HLA-DQB,IDDM1, |
Gene 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 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 DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to 4 different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq] |
Location | | Chromosome: 6 Locus: 6p21.3 |
Gene position | | 32634466 - 32627657 Map Viewer |
Gene orientation | | minus |
Gene size | | 6810 bp |
Gene sequence |
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OMIM ID | | 604305 |
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