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

HLA-DMA Gene

protein-coding   GIFtS: 61
GCID: GC06M032924

Major Histocompatibility Complex, Class II, DM Alpha

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 Alpha1 2     D6S222E2
RING62 3 5     HLADM2
Really Interesting New Gene 6 Protein2 3     Class II Histocompatibility Antigen, M Alpha Chain2
DMA2 3     HLA Class II Histocompatibility Antigen, DM Alpha Chain2
MHC Class II Antigen DMA2 3     

External Ids:    HGNC: 49341   Entrez Gene: 31082   Ensembl: ENSG000002042577   OMIM: 1428555   UniProtKB: P280673   

Export aliases for HLA-DMA gene to outside databases

Previous GC identifers: GC06M032913 GC06M032687 GC06M032963 GC06M033024 GC06M032917 GC06M032918 GC06M032658 GC06M032919


(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-DMA Gene:
HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of
an alpha (DMA) and a beta chain (DMB), 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 molecule
from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes,
dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one
encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane
domain and the cytoplasmic tail. (provided by RefSeq, Jul 2008)

GeneCards Summary for HLA-DMA Gene: 
HLA-DMA (major histocompatibility complex, class II, DM alpha) is a protein-coding gene. Diseases associated with HLA-DMA include cardiac sarcoidosis, and measles, 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: DMA_HUMAN, P28067
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-DMA 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-DMA gene promoter:
         Max   TBP   SRY   deltaCREB   TFIID   IRF-7A   c-Myc   
         Other transcription factors

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

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


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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032924:  view genomic region     (about GC identifiers)

Start:
32,916,390 bp from pter      End:
32,936,871 bp from pter
Size:
20,482 bases      Orientation:
minus strand

6/7 alternative locations (see all 7):
Chr6-,NT_167246 4,373,602-4,378,111      Chr6-,NT_167244 4,203,377-4,207,888      Chr6-,NT_167249 4,347,147-4,351,658     
Chr6-,NT_167248 4,148,517-4,153,028      Chr6-,NT_167245 4,197,729-4,202,240      Chr6-,NT_167247 4,253,244-4,257,755     

(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: DMA_HUMAN, P28067 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DM alpha chain precursor  
Size: 261 amino acids; 29194 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
4 PDB 3D structures from and Proteopedia for HLA-DMA:
1HDM (3D)        2BC4 (3D)        4FQX (3D)        4GBX (3D)    
Secondary accessions: Q29639 Q29640

Explore the universe of human proteins at neXtProt for HLA-DMA: NX_P28067

Explore proteomics data for HLA-DMA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28067

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

    HLA-DMA Protein Expression
    REFSEQ proteins: NP_006111.2  
    ENSEMBL proteins: 
     ENSP00000378716   ENSP00000378714   ENSP00000363976   ENSP00000409668   ENSP00000403122  
    Reactome Protein details: P28067
    Human Recombinant Protein Products for HLA-DMA: 
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    Novus Biologicals HLA-DMA Proteins
    Novus Biologicals HLA-DMA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005764lysosome ----
    GO:0005765lysosomal membrane TAS--
    GO:0005770late endosome ----
    GO:0005771multivesicular body IEA--

    HLA-DMA 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):
     IPR001003 MHC_II_a_N
     IPR011162 MHC_I/II-like_Ag-recog
     IPR013783 Ig-like_fold
     IPR014745 MHC_II_a/b_N
     IPR003597 Ig_C1-set

    Graphical View of Domain Structure for InterPro Entry P28067

    ProtoNet protein and cluster: P28067

    2 Blocks protein domains:
    IPB001003 MHC Class II alpha chain
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: DMA_HUMAN, P28067
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    HLA-DMA 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: DMA_HUMAN, P28067
    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-DMA:
    HLA-DM,alpha chain,class II related,expressed in B cell lysosomes,same as RING6

         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-DMA for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 5 alleles(MGI details for H2-DMa):
     cellular  growth/size  hematopoietic system  immune system  mortality/aging 

    HLA-DMA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HLA-DMA: H2-DMaH2-tm1Liz H2-DMaH2-tm1Lkrl H2-DMaH2-tm1Doi H2-DMaH2-tm1Luc H2-DMaH2-tm2Liz

       inGenious Targeting Laboratory - Custom generated mouse model solutions for HLA-DMA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HLA-DMA

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HLA-DMA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HLA-DMA 

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    Inhib. RNA
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    (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-DMA 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-DMA (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-DMA (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-DMA (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 BioSystems Pathway for HLA-DMA
        Diurnally regulated genes with circadian orthologs

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


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


    HLA-DMA for pathways           About GeneDecksing

    Interactions:

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

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

    5/53 Interacting proteins for HLA-DMA (P280672, 3 ENSP000003639764) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000241674P280682, 3, ENSP000003727184MINT-24982 I2D: score=2 STRING: ENSP00000372718
    ENSG00000242092P280682, 3, ENSP000003787234MINT-24982 I2D: score=2 STRING: ENSP00000378723
    HLA-DMBP280682, 3, ENSP000003988904MINT-24982 I2D: score=2 STRING: ENSP00000398890
    ENSG00000239329P280682, 3, ENSP000003936464MINT-24982 I2D: score=2 STRING: ENSP00000393646
    ENSG00000226264P280682, 3MINT-24982 I2D: score=2 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002504antigen processing and presentation of peptide or polysaccharide antigen via MHC class II ----
    GO:0006461protein complex assembly IEA--
    GO:0006955immune response ----
    GO:0015031protein transport IEA--
    GO:0016064immunoglobulin mediated immune response IEA--

    HLA-DMA 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-DMA for compounds           About GeneDecksing

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

    Browse Tocris compounds for HLA-DMA (DMA)

    5 Novoseek inferred chemical compound relationships for HLA-DMA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 3.45 3 15547082 (1), 11775239 (1), 10689120 (1)
    hydrogen 0.727 8 19767569 (2), 14707085 (2), 17143275 (1)
    tyrosine 0 3 10602001 (2), 9659222 (1)
    leucine 0 1 12009208 (1)
    histidine 0 1 17143275 (1)

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

    (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-DMA gene: 
    NM_006120.3  

    Unigene Cluster for HLA-DMA:

    Major histocompatibility complex, class II, DM alpha
    Hs.728759  [show with all ESTs]
    Unigene Representative Sequence: AK055186
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000480785 ENST00000395305 ENST00000395303 ENST00000477541(uc011dqm.1)
    ENST00000374843(uc003ocm.2) ENST00000464392 ENST00000456800 ENST00000422832
    ENST00000475627
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK055186.1 AK291858.1 AK298081.1 AK310162.1 BC011447.1 BC026279.1 CR450324.1 X62744.1 

    23 DOTS entries:

    DT.417533  DT.100817259  DT.95320419  DT.95116464  DT.121352380  DT.101962365  DT.121352518  DT.121352479 
    DT.121352670  DT.40211682  DT.95204007  DT.100739123  DT.100817254  DT.100817260  DT.92063851  DT.100817261 
    DT.121352376  DT.92426591  DT.92443008  DT.95248538  DT.97859453  DT.121352680  DT.92443010 

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

    N57386 BU195167 NM_002118 BX090473 BC027175 AA748710 CR450324 BQ217488 
    BQ346777 BG057811 BP339507 CR594625 AI301001 BM464610 CR611765 BG755935 
    CA976199 BF912808 AI362723 BM923775 BG546214 CA413444 AA811366 CA448884 

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


    HLA-DMA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 4 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             CD19+ B Cells   
     
     Thymus (Hematopoietic System)
             Thymus
     
     Endothelium (Cardiovascular System)
             Peripheral blood-derived early endothelial progenitor cells
     
     Mesenchymal Stem Cells (Muscoskeletal System)
             Human Mesenchymal Stem Cells (hMSC)-1   
     
     Lymph (Hematopoietic System)
             Lymphnode   

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

    SOURCE GeneReport for Unigene cluster: Hs.728759
        SABiosciences Expression via Pathway-Focused PCR Array including HLA-DMA: 
              Antigen Presenting Cells in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DMA

    (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-DMA gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H2-DMa1 , 5 histocompatibility 2, class II, locus DMa1, 5 79.95(n)1
    75.86(a)1
      17 (17.98 cM)5
    149981  NM_010386.31  NP_034516.31 
     341351825 
    chicken
    (Gallus gallus)
    Aves BMA11 B locus M alpha chain 1 52.56(n)
    38.14(a)
      417050  NM_001099353.2  NP_001092823.1 
    lizard
    (Anolis carolinensis)
    Reptilia HLA-DMA6
    Uncharacterized protein
    47(a)
    1 ↔ 1
    4(93367241-93368742)
    zebrafish
    (Danio rerio)
    Actinopterygii si:zfos-2070c2.16
    si:busm1-48c11.36
    (see all 10)
    si:busm1-48c11.3
    (see all 10)
    26(a)
    25(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    8(37488525-37498906)
    8(36283500-36286998)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HLA-DMA gene
    HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DRB12  HLA-DOB2  HLA-DQB22  
    HLA-DOA2  ENSG000002489932  HLA-DMB2  HLA-DQA22  HLA-DPB12  
    11 SIMAP similar genes for HLA-DMA using alignment to 11 protein entries:     DMA_HUMAN (see all proteins):
    DMA    HLA-DQA1    HLA-DQA2    HLA-DMB    HLA-DQA1/DRA    HLA-DPA1
    HLA-DOA    DKFZp667J0810    IGLC7    C1 segment    IGLC6

    HLA-DMA 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: DMA_HUMAN, P28067
    Polymorphism: The following alleles of DMA are known: DMA*01:01, DMA*01:02, DMA*01:03 (DMA3.2) and DMA*01:04
    (DMA3.4). The sequence shown is that of DMA*01:01


    10/158 SNPs in HLA-DMA are shown (see all 158)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0167474
    ----see VAR_0167472 D H mis40--------
    VAR_0167464
    ----see VAR_0167462 H Q mis40--------
    rs1999110501,2
    C--32832059(+) ATAAC-/TGAT  
            
    TGGTA
    1 -- ds50010--------
    rs1866201531,2
    C--32832119(+) AGTTAC/TGGTGA 1 -- ds50010--------
    rs1477158551,2
    C--32832201(+) ACACA-/ACACACA 1 -- ds50010--------
    rs3754740041,2
    C--32832215(-) TTGTGC/TGTGTG 1 -- ds50010--------
    rs1914685111,2
    --32832303(+) TGCACA/GAACCG 1 -- ds50010--------
    rs1166116931,2
    C,F--32832533(+) CTTGTG/TGGGGG 1 -- ut311Minor allele frequency- T:0.04NA 120
    rs115392141,2
    C--32832615(-) TTTCCC/TACCTG 1 -- ut31 ese30--------
    rs106791,2
    C,F,A,H--32832670(-) ATCTCC/TTCTTA 1 -- ut3119Minor allele frequency- T:0.05NA MN NS EA WA EU 3015

    HapMap Linkage Disequilibrium report for HLA-DMA (32916390 - 32936871 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for HLA-DMA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv483081CNV Loss15286789
    nsv830633CNV Loss17160897
    dgv1937e1CNV Complex17122850


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

    (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: 142855    OMIM disorders: --

    20/35 diseases for HLA-DMA (see all 35):    About MalaCards
    cardiac sarcoidosis    measles    sarcoidosis    toxoplasmosis
    type 1 diabetes mellitus    rheumatic disease    autoimmune thyroiditis    rabies
    type 1 diabetes    psoriasis    influenza    multiple sclerosis
    lupus erythematosus    myocarditis    leishmaniasis    rheumatoid arthritis
    duodenitis    graft versus host disease    diabetes mellitus    atopic dermatitis


    HLA-DMA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/16 Novoseek inferred disease relationships for HLA-DMA gene (see all 16)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hla-do 97.7 56 19019088 (6), 15849268 (4), 10631952 (4), 12663675 (3) (see all 26)
    autoimmune diseases 41.4 1 11775239 (1)
    rheumatoid arthritis 32.4 19 10689121 (3), 10575273 (2), 9153546 (2), 10689120 (2) (see all 11)
    autoimmunity 25.7 2 11046010 (1), 18506881 (1)
    genetic susceptibility 25 4 12648225 (1), 10371284 (1), 11775239 (1), 9153546 (1)
    tumors 3.15 6 16987935 (4), 14705986 (1)
    measles 0 4 12786997 (2), 15165177 (1)
    lupus erythematosus systemic 0 3 12858445 (2), 15547089 (1)
    diabetes mellitus insulin-dependent 0 1 10519369 (1)
    necrosis 0 1 14705986 (1)

    Genetic Association Database (GAD): HLA-DMA
    Human Genome Epidemiology (HuGE) Navigator: HLA-DMA (21 documents)

    Export disorders for HLA-DMA 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-DMA gene, integrated from 9 sources (see all 227):
    (articles sorted by number of sources associating them with HLA-DMA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of TAP and HLA-DM genes with psoriasis in Koreans. (PubMed id 12648225)1, 4, 9 Pyo C.W....Kim T.G. (2003)
    2. Polymorphism of HLA-DMA and DMB alleles in patients with systemic lupus erythematosus. (PubMed id 12858445)1, 4, 9 Morel J....Eliaou J.F. (2003)
    3. [HLA-DM gene polymorphism in Cantonese with condyloma acuminata] (PubMed id 16864101)1, 4, 9 Yang W.L....Ye T. (2006)
    4. HLA-DMA*0103 and HLA-DMB*0104 alleles as novel prognostic factors in rheumatoid arthritis. (PubMed id 15547082)1, 4, 9 Morel J....Combe B. (2004)
    5. Association of HLA-DM polymorphism with the production of antiphospholipid antibodies. (PubMed id 15547089)1, 4, 9 Sanchez M.L....Khamashta M.A. (2004)
    6. Lack of association between transporter associated with antigen processing (TAP) and HLA-DM gene polymorphisms and antibody levels following measles vaccination. (PubMed id 12786997)1, 4, 9 Dhiman N....Poland G.A. (2003)
    7. HLA DMA and DMB show no association with rheumatoid arthritis in US Caucasians. (PubMed id 11881821)1, 4, 9 Moxley G. and Han J. (2001)
    8. Polymorphisms of TAP, LMP and HLA-DM genes in the Chinese. (PubMed id 11775239)1, 4, 9 Zhu X....Wang F. (2000)
    9. The structure of HLA-DM, the peptide exchange catalyst that loads antigen onto class II MHC molecules during antigen presentation. (PubMed id 9768757)1, 2, 9 Mosyak L.... Wiley D.C. (1998)
    10. [HLA-DM polymorphisms in Guizhou Han individuals] (PubMed id 18779172)1, 4, 9 Jiang H.M....Wang Y. (2008)

    (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: 3108 HGNC: 4934 AceView: HLA-DMBandHLA-DMA Ensembl:ENSG00000204257 euGenes: HUgn3108
    ECgene: HLA-DMA Kegg: 3108 H-InvDB: HLA-DMA

    (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-DMA 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-DMA gene:
    Search GeneIP for patents involving HLA-DMA

    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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