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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HLA-DMB Gene

protein-coding   GIFtS: 63
GCID: GC06M032903

Major Histocompatibility Complex, Class II, DM Beta

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Major Histocompatibility Complex, Class II, DM Beta1 2     Class II Histocompatibility Antigen, M Beta Chain2
RING72 3 5     HLA Class II Histocompatibility Antigen, DM Beta Chain2
Really Interesting New Gene 7 Protein2 3     MHC Class II Antigen HLA-DM Beta Chain2
MHC Class II Antigen DMB2 3     MHC Class II HLA-DMB2
D6S221E2     DMB3

External Ids:    HGNC: 49351   Entrez Gene: 31092   Ensembl: ENSG000002425747   OMIM: 1428565   UniProtKB: P280683   

Export aliases for HLA-DMB gene to outside databases

Previous GC identifers: GC06M032899 GC06M032673 GC06M032949 GC06M033010 GC06Mf32973 GC06M032644


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary 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 toxoplasmosis, and type 1 diabetes mellitus, and among its related super-pathways are Allograft rejection and ICos-ICosL Pathway in T-Helper Cell. An important paralog of this gene is HLA-DRB5.

UniProtKB/Swiss-Prot: DMB_HUMAN, P28068
Function: 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

Gene Wiki entry for HLA-DMB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NT_113891.2  NT_167244.1  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HLA-DMB gene promoter:
         TBP   SRY   AML1a   GCNF   GCNF-1   TFIID   MyoD   GCNF-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHLA-DMB promoter sequence
   Search SABiosciences Chromatin IP Primers for HLA-DMB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HLA-DMB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

HLA-DMB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLA-DMB gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032903:  view genomic region     (about GC identifiers)

Start:
32,902,406 bp from pter      End:
32,908,847 bp from pter
Size:
6,442 bases      Orientation:
minus strand

6/7 alternative locations (see all 7):
Chr6-,NT_167246 4,359,617-4,366,058      Chr6-,NT_113891.2 4,346,930-4,353,371      Chr6-,NT_167248 4,134,533-4,140,973     
Chr6-,NT_167244 4,189,390-4,195,831      Chr6-,NT_167245 4,183,743-4,190,184      Chr6-,NT_167247 4,239,257-4,245,698     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DMB_HUMAN, P28068 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DM beta chain precursor  
Size: 263 amino acids; 28943 Da
Subunit: Heterodimer of an alpha chain (DMA) and a beta chain (DMB)
Subcellular location: Late endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass
type I membrane protein. Note=Localizes to late endocytic compartment. Associates with lysosome membranes
5 PDB 3D structures from and Proteopedia for HLA-DMB:
1HDM (3D)        2BC4 (3D)        4FQX (3D)        4GBX (3D)        4I0P (3D)    
Secondary accessions: O77936 Q13012 Q29751 Q58ZE2 Q5SNZ8 Q5STC4 Q9XRX2

Explore the universe of human proteins at neXtProt for HLA-DMB: NX_P28068

Explore proteomics data for HLA-DMB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28068

  • HLA-DMB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HLA-DMB Protein Expression
    REFSEQ proteins: NP_002109.2  
    ENSEMBL proteins: 
     ENSP00000390848   ENSP00000411276   ENSP00000398890   ENSP00000391010  
    Reactome Protein details: P28068
    Human Recombinant Protein Products for HLA-DMB: 
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    Novus Biologicals HLA-DMB Protein
    Novus Biologicals HLA-DMB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--
    GO:0031902late endosome membrane IEA--
    GO:0042613MHC class II protein complex IEA--

    HLA-DMB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HLA: Histocompatibility complex
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    5/7 InterPro protein domains (see all 7):
     IPR011162 MHC_I/II-like_Ag-recog
     IPR000353 MHC_II_b_N
     IPR013783 Ig-like_fold
     IPR014745 MHC_II_a/b_N
     IPR003597 Ig_C1-set

    Graphical View of Domain Structure for InterPro Entry P28068

    ProtoNet protein and cluster: P28068

    2 Blocks protein domains:
    IPB000353 Class II histocompatibility antigen
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: DMB_HUMAN, P28068
    Domain: The YXXZ (Tyr-Xaa-Xaa-Zaa, where Zaa is a hydrophobic residue) motif mediates the targeting to the
    lysosomal compartments
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    HLA-DMB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DMB_HUMAN, P28068
    Function: 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

         Genatlas biochemistry entry for HLA-DMB:
    HLA-DM,beta chain,class II related,expressed in B cell lysosomes,same as RING7

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    HLA-DMB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HLA-DMB:
     Decreased number of cells in m 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HLA-DMB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HLA-DMB

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    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of HLA-DMB 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DMB


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HLA-DMB About   (see all 25)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Allograft rejection
    Allograft rejection0.69
    Intestinal immune network for IgA production0.42
    Type I diabetes mellitus0.69
    THC Differentiation Pathway0.37
    Graft-versus-host disease0.65
    Antigen processing and presentation0.37
    Autoimmune thyroid disease0.62
    CTL Mediated Apoptosis0.36
    2ICos-ICosL Pathway in T-Helper Cell
    ICos-ICosL Pathway in T-Helper Cell0.66
    Calcium Mediated T-Cell Apoptosis0.31
    CD28 Signaling in T-Helper Cell0.66
    3PKC-Theta Pathway
    TCR Signaling0.68
    ITK and TCR Signaling0.54
    PKC-Theta Pathway0.68
    4Leishmaniasis
    Leishmaniasis0.36
    Inflammatory bowel disease (IBD)0.34
    Toxoplasmosis0.36
    5Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for HLA-DMB (see all 6)
        Immune response Antigen presentation by MHC class II
    G-protein signaling N-RAS regulation pathway
    Immune response IL-22 signaling pathway
    Immune response NFAT in immune response
    Immune response ICOS pathway in T-helper cell

    5/12 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HLA-DMB (see all 12)
        THC Differentiation Pathway
    Calcium Mediated T-Cell Apoptosis
    IL-4 Pathway
    ICos-ICosL Pathway in T-Helper Cell
    CDC42 Pathway

    5/6 GeneGo (Thomson Reuters) Pathways for HLA-DMB (see all 6)
        Immune response Antigen presentation by MHC class II
    Immune response ICOS pathway in T-helper cell
    Immune response T cell receptor signaling pathway
    Immune response IL-22 signaling pathway
    G-protein signaling N-RAS regulation pathway

    1 Sino Biological Pathway for HLA-DMB 
        NF-kB (NFkB) Pathway

    3        Reactome Pathways for HLA-DMB
        Adaptive Immune System
    Immune System
    MHC class II antigen presentation


    5/20         Kegg Pathways  (Kegg details for HLA-DMB) (see all 20):
        Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Intestinal immune network for IgA production
    Type I diabetes mellitus


    HLA-DMB for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HLA-DMB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/56 Interacting proteins for HLA-DMB (P280682, 3 ENSP000003988904) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-DMAP280672, 3, ENSP000003639764MINT-24982 I2D: score=2 STRING: ENSP00000363976
    ENSG00000239463P280672, 3MINT-24982 I2D: score=2 
    ENSG00000242361P280672, 3MINT-24982 I2D: score=2 
    ENSG00000242685P280672, 3MINT-24982 I2D: score=2 
    ENSG00000243189P280672, 3MINT-24982 I2D: score=2 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002504antigen processing and presentation of peptide or polysaccharide antigen via MHC class II ----
    GO:0006955immune response IEA--
    GO:0019882antigen processing and presentation ----
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    HLA-DMB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    HLA-DMB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HLA-DMB (DMB)

    1 Novoseek inferred chemical compound relationship for HLA-DMB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 18.3 5 11775239 (1), 9676759 (1), 10689120 (1)

    Search CenterWatch for drugs/clinical trials and news about HLA-DMB / DMB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HLA-DMB gene: 
    NM_002118.4  

    Unigene Cluster for HLA-DMB:

    Major histocompatibility complex, class II, DM beta
    Hs.351279  [show with all ESTs]
    Unigene Representative Sequence: NM_002118
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487996(uc003ock.2) ENST00000477537 ENST00000438510 ENST00000414017(uc010jud.2 uc010juf.2)
    ENST00000498020(uc003ocj.2) ENST00000418107(uc010jue.2 uc003ocl.2)
    ENST00000416244(uc011dql.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AB362554.1 AB362555.1 AB362556.1 AK301017.1 AY645722.1 BC027175.1 CR407606.1 U15085.1 
    Z23139.1 

    16 DOTS entries:

    DT.214633  DT.100641850  DT.92426584  DT.95282617  DT.86854291  DT.95190417  DT.95080340  DT.121352473 
    DT.121352361  DT.95170296  DT.121352647  DT.417533  DT.91690419  DT.92426591  DT.121352677  DT.91802735 

    24/565 AceView cDNA sequences (see all 565):

    N57386 BG756282 BQ217488 BX090473 CR591828 AI362723 NM_002118 BM818775 
    CA448884 BM923775 W61324 H13691 BI821584 BI824486 BC027175 AA811366 
    CA413444 BI819854 BX115870 CR594625 BQ346777 R83739 CA976199 BE857060 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HLA-DMB expression in normal human tissues (normalized intensities)      HLA-DMB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCTCCAAC
    HLA-DMB Expression
    About this image


    HLA-DMB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 9 entries
             CD19+ B Cells   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Cord Blood CD133- Cells   
     
     Epithelium (Uncategorized)    fully expand to see all 2 entries
             Human Renal Proximal Tubular Epithelial Cells (HRPTEpiC)   
     
     Lung (Respiratory System)
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   
     
     Liver (Hepatobiliary System)
             Fetal Liver CD34+ Cells   

    See HLA-DMB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HLA-DMB

    SOURCE GeneReport for Unigene cluster: Hs.351279
        SABiosciences Custom PCR Arrays for HLA-DMB
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DMB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HLA-DMB gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H2-DMb15
    H2-DMb21
    histocompatibility 2, class II, locus Mb15
    histocompatibility 2, class II, locus Mb21
    79.08(n)1
    73.73(a)1
      17 (17.98 cM)5
    150001  NM_010388.41  NP_034518.11 
     341530725 
    chicken
    (Gallus gallus)
    Aves B-MA21 B locus M beta chain 2 54.15(n)
    41.11(a)
      417051  NM_001135166.1  NP_001128638.1 
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-211l2.36
    si:ch1073-403i13.16
    (see all 10)
    si:ch1073-403i13.1
    (see all 10)
    21(a)
    19(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    8(47078720-47080882)
    8(37574076-37576393)


    ENSEMBL Gene Tree for HLA-DMB (if available)
    TreeFam Gene Tree for HLA-DMB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HLA-DMB gene
    HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DRB12  HLA-DOB2  HLA-DMA2  
    HLA-DQB22  HLA-DOA2  ENSG000002489932  HLA-DQA22  HLA-DPB12  
    18/77 SIMAP similar genes for HLA-DMB using alignment to 12 protein entries:     DMB_HUMAN (see all proteins) (see all similar genes):
    DKFZp686E23209    IGHG2    HLA-D    HLA-DMA    HLA-B*    HLA-F
    HLA-DR    HLA B    HLA-E    HLA-A    HLA-B    HLA
    HLA-H    HLA DQB1    HLA-A*02    HLA-A*0226    HLA-A*33    HLA-A24AK

    HLA-DMB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: DMB_HUMAN, P28068
    Polymorphism: The following alleles of DMB are known: DMB*01:01, DMB*01:02, DMB*01:03, DMB*01:04 (DMB3.4),
    DMB*01:05, DMB*01:06, and DMB*01:07. The sequence shown is that of DMB*01:01


    10/245 SNPs in HLA-DMB are shown (see all 245)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0167544
    ----see VAR_0167542 A V mis40--------
    VAR_0167534
    ----see VAR_0167532 A E mis40--------
    rs31321321,2
    C,F,O,A,H--32901934(+) GTATGG/AAAGAA 1 -- ds5001113Minor allele frequency- A:0.12NS EA NA PA EU CA WA CSA 7442
    rs126620771,2
    C,F,A,H--32902001(+) ATGAGG/AGGTCT 1 -- ds500115Minor allele frequency- A:0.08NS EA CSA WA NA 2238
    rs1165023951,2
    C,F--32902003(+) GAGGGG/TTCTGC 1 -- ds50012Minor allele frequency- T:0.04WA NA 238
    rs1877641,2
    C,F,H--32902114(-) ACACCG/ACCAGG 1 -- ds50018Minor allele frequency- A:0.04NS EA NA WA 776
    rs455895401,2
    C--32902424(+) CCAAAG/ATTTAT 1 -- ut311Minor allele frequency- A:0.01WA 118
    rs1427538511,2
    C--32902458(+) CTGTCC/TTCTAT 1 -- ut310--------
    rs107511,2
    C,F,A,H--32902583(-) AGCAAC/TTTGGG 1 -- ut3134Minor allele frequency- T:0.12NS EA NA MN WA CSA 3855
    rs122064261,2
    C,F,H--32902609(+) GAGACT/GGGGAA 1 -- ut317Minor allele frequency- G:0.02MN NS EA NA 520

    HapMap Linkage Disequilibrium report for HLA-DMB (32902406 - 32908847 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for HLA-DMB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv819732CNV Loss19587683
    nsv483081CNV Loss15286789
    nsv830633CNV Loss17160897
    esv33619CNV Gain17666407
    dgv1937e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): HLA-DMB

    Locus Specific Mutation Databases (LSDB): HLA-DMB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HLA-DMB
    DNA2.0 Custom Variant and Variant Library Synthesis for HLA-DMB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 142856    OMIM disorders: --

    20/31 diseases for HLA-DMB (see all 31):    About MalaCards
    toxoplasmosis    type 1 diabetes mellitus    rheumatic disease    autoimmune thyroiditis
    severe combined immunodeficiency    type 1 diabetes    measles    celiac disease
    lupus erythematosus    myocarditis    leishmaniasis    duodenitis
    rheumatoid arthritis    graft versus host disease    sarcoidosis    diabetes mellitus
    atopic dermatitis    dermatitis    systemic lupus erythematosus    myopathy


    HLA-DMB for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for HLA-DMB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rheumatoid arthritis 41.2 9 10321961 (2), 9153546 (2), 10371284 (1), 9676759 (1) (see all 5)
    genetic susceptibility 40.1 1 9153546 (1)
    diabetes mellitus insulin-dependent 18 1 10519369 (1)
    lupus erythematosus systemic 9.37 3 9487257 (2), 15547089 (1)

    Genetic Association Database (GAD): HLA-DMB
    Human Genome Epidemiology (HuGE) Navigator: HLA-DMB (18 documents)

    Export disorders for HLA-DMB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HLA-DMB gene, integrated from 9 sources (see all 143):
    (articles sorted by number of sources associating them with HLA-DMB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A new human HLA class II-related locus, DM. (PubMed id 1922365)1, 2, 3 Kelly A.P.... Trowsdale J. (1991)
    2. HLA-DM polymorphism and risk of trichloroethylene induced medicamentosa-like dermatitis. (PubMed id 18348411)1, 4, 9 Yue F....Chen X.M. (2007)
    3. Association of TAP and HLA-DM genes with psoriasis in Koreans. (PubMed id 12648225)1, 4, 9 Pyo C.W....Kim T.G. (2003)
    4. Association of HLA-DM polymorphism with the production of antiphospholipid antibodies. (PubMed id 15547089)1, 4, 9 Sanchez M.L....Khamashta M.A. (2004)
    5. Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese. (PubMed id 11775239)1, 4, 9 Zhu X....Wang F. (2000)
    6. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    7. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (2009)
    8. [HLA-DM polymorphisms in Guizhou Han individuals] (PubMed id 18779172)1, 4 Jiang H.M....Wang Y. (2008)
    9. [HLA-DM gene polymorphism in Cantonese with condyloma acuminata] (PubMed id 16864101)1, 4 Yang W.L....Ye T. (2006)
    10. [Relationship of trichloroethylene-induced medicamentosa like dermatitis to HLA-DMA and HLA-DMB] (PubMed id 16737583)1, 4 Yue F....Chen X.M. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3109 HGNC: 4935 AceView: HLA-DMBandHLA-DMA Ensembl:ENSG00000242574 euGenes: HUgn3109
    ECgene: HLA-DMB Kegg: 3109 H-InvDB: HLA-DMB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HLA-DMB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HLA-DMB gene:
    Search GeneIP for patents involving HLA-DMB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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