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 Red-Green Color Blindness and Red Color Blindness. Among its related pathways are ICos-ICosL Pathway in T-Helper Cell and CTLA4 Signaling. 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.