HLA-DMB (original) (raw)

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Protein-coding gene in the species Homo sapiens

HLA-DMB
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes1HDM, 2BC4, 4FQX, 4GBX, 4I0P
Identifiers
Aliases HLA-DMB, D6S221E, RING7, major histocompatibility complex, class II, DM beta
External IDs OMIM: 142856; MGI: 95922; HomoloGene: 68231; GeneCards: HLA-DMB; OMA:HLA-DMB - orthologs
Gene location (Human)Chromosome 6 (human)Chr.Chromosome 6 (human)[1]Chromosome 6 (human)Genomic location for HLA-DMBGenomic location for HLA-DMBBand6p21.32Start32,934,629 bp[1]End32,941,028 bp[1]
Gene location (Mouse)Chromosome 17 (mouse)Chr.Chromosome 17 (mouse)[2]Chromosome 17 (mouse)Genomic location for HLA-DMBGenomic location for HLA-DMBBand17 B1|17 17.98 cMStart34,372,046 bp[2]End34,379,204 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed inmonocytegranulocytelymph nodeappendixspleenduodenumgallbladderright lungupper lobe of left lungrectumTop expressed inmesenteric lymph nodesspleenbloodright kidneyankle jointsuperior surface of tonguethymussciatic nervelipsubcutaneous adipose tissueMore reference expression dataBioGPSMore reference expression data
Gene ontologyMolecular function MHC class II protein complex binding protein binding Cellular component lysosomal membrane lysosome membrane endosome late endosome membrane integral component of membrane MHC class II protein complex Biological process positive regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell antigen processing and presentation MHC class II protein complex assembly positive regulation of T cell proliferation antigen processing and presentation of peptide or polysaccharide antigen via MHC class II peptide antigen assembly with MHC class II protein complex immune system process antigen processing and presentation of exogenous peptide antigen via MHC class II immune response adaptive immune response Sources:Amigo / QuickGO
OrthologsSpeciesHuman MouseEntrez310914999EnsemblENSG00000241674ENSG00000226264ENSG00000242574ENSG00000239329ENSG00000234154ENSG00000242386ENSG00000242092ENSG00000241296ENSMUSG00000079547UniProtP28068P35737Q31094RefSeq (mRNA)NM_002118NM_010387RefSeq (protein)NP_002109NP_034517Location (UCSC)Chr 6: 32.93 – 32.94 MbChr 17: 34.37 – 34.38 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

HLA class II histocompatibility antigen, DM beta chain is a protein that in humans is encoded by the HLA-DMB gene.[5][6]

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.[6]

Clinical significance

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HLA-DMB is upregulated in tumor tissue of Caucasian but not African patients. Its role in tumor immunology is undefined but has been shown to positively correlated with increased T-cell infiltration and improved prognosis in ovarian cancer. Differential immune processes mediated by HLA-DMB may contribute to the disparity in cancer outcome.[7]

  1. ^ a b c ENSG00000226264, ENSG00000242574, ENSG00000239329, ENSG00000234154, ENSG00000242386, ENSG00000242092, ENSG00000241296 GRCh38: Ensembl release 89: ENSG00000241674, ENSG00000226264, ENSG00000242574, ENSG00000239329, ENSG00000234154, ENSG00000242386, ENSG00000242092, ENSG00000241296Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000079547Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Kelly AP, Monaco JJ, Cho SG, Trowsdale J (Nov 1991). "A new human HLA class II-related locus, DM". Nature. 353 (6344): 571–3. Bibcode:1991Natur.353..571K. doi:10.1038/353571a0. PMID 1922365. S2CID 3065226.
  6. ^ a b "Entrez Gene: HLA-DMB major histocompatibility complex, class II, DM beta".
  7. ^ Kinseth MA, Jia Z, Rahmatpanah F, Sawyers A, Sutton M, Wang-Rodriguez J, Mercola D, McGuire KL (Jan 2014). "Expression differences between African American and Caucasian prostate cancer tissue reveals that stroma is the site of aggressive changes". International Journal of Cancer. 134 (1): 81–91. doi:10.1002/ijc.28326. PMC 3800217. PMID 23754304.