Aliases for HLA-DMB Gene
External Ids for HLA-DMB Gene
Previous GeneCards Identifiers for HLA-DMB Gene
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]
GeneCards Summary for HLA-DMB Gene
HLA-DMB (Major Histocompatibility Complex, Class II, DM Beta) is a Protein Coding gene. Diseases associated with HLA-DMB include Nodular Medulloblastoma and Red-Green Color Blindness. Among its related pathways are Hematopoietic cell lineage and Allograft rejection. GO annotations related to this gene include MHC class II protein complex binding. An important paralog of this gene is ENSG00000248993.
UniProtKB/Swiss-Prot for HLA-DMB Gene
Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.