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

HLA-DOA Gene

protein-coding   GIFtS: 60
GCID: GC06M032971

Major Histocompatibility Complex, Class II, DO Alpha


(Previous symbols: HLA-DZA, HLA-DNA)
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, DO Alpha1 2     HLA-D0-alpha2
HLA-DNA1 2 3 5     HLADZ2
HLA-DZA1 2 3     HLA Class II Histocompatibility Antigen, DO Alpha Chain2
MHC Class II Antigen DOA2 3     Lymphocyte Antigen2
MHC DN-Alpha2 3     Major Histocompatibility Complex, Class II, DN Alpha2
MHC DZ Alpha2 3     

External Ids:    HGNC: 49361   Entrez Gene: 31112   Ensembl: ENSG000002042527   OMIM: 1429305   UniProtKB: P063403   

Export aliases for HLA-DOA gene to outside databases

Previous GC identifers: GC06M032976 GC06M033020 GC06M033081 GC06M032714


(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-DOA Gene:
HLA-DOA belongs to the HLA class II alpha chain paralogues. HLA-DOA forms a heterodimer with HLA-DOB. The
heterodimer, HLA-DO, is found in lysosomes in B cells and regulates HLA-DM-mediated peptide loading on MHC class
II molecules. In comparison with classical HLA class II molecules, this gene exhibits very little sequence
variation, especially at the protein level. (provided by RefSeq, Jul 2008)

GeneCards Summary for HLA-DOA Gene: 
HLA-DOA (major histocompatibility complex, class II, DO alpha) is a protein-coding gene. Diseases associated with HLA-DOA include alopecia universalis, and vogt-koyanagi-harada disease, and among its related super-pathways are Allograft rejection and ICos-ICosL Pathway in T-Helper Cell. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DRB5.

UniProtKB/Swiss-Prot: DOA_HUMAN, P06340
Function: Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the
HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM

Gene Wiki entry for HLA-DOA 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_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-DOA gene promoter:
         USF1   AML1a   SREBP-1c   HNF-4alpha1   Roaz   SREBP-1b   PPAR-gamma1   SREBP-1a   USF-1   PPAR-gamma2   
         Other transcription factors

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

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


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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032971:  view genomic region     (about GC identifiers)

Start:
32,971,955 bp from pter      End:
32,977,389 bp from pter
Size:
5,435 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,NT_167247 4,308,822-4,314,252      Chr6-,NT_113891.2 4,416,456-4,421,886      Chr6-,NT_167248 4,204,052-4,209,482     
Chr6-,NT_167245 4,253,308-4,258,737      Chr6-,NT_167249 4,452,675-4,458,104      Chr6-,NT_167246 4,429,151-4,434,580     

(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: DOA_HUMAN, P06340 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DO alpha chain precursor  
Size: 250 amino acids; 27599 Da
Subunit: Heterodimer of an alpha chain (DOA) and a beta chain (DOB). Forms a heterotetrameric complex with an
HLA-DM molecule during intracellular transport in endosomal/lysosomal compartments in B-cells
Subcellular location: Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type
I membrane protein. Note=Complexes with HLA-DM molecule during intracellular transport and in endosomal/lysosomal
compartments. Heterotetramerization is necessary to exit the ER
1 PDB 3D structure from and Proteopedia for HLA-DOA:
4I0P (3D)    
Secondary accessions: Q58HU0 Q58HU1 Q5STC7 Q9TQC6 Q9TQC7 Q9TQC8 Q9TQC9 Q9TQD0 Q9TQD1 Q9TQD2
Q9TQD3

Explore the universe of human proteins at neXtProt for HLA-DOA: NX_P06340

Explore proteomics data for HLA-DOA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P06340

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

    HLA-DOA Protein Expression
    REFSEQ proteins: NP_002110.1  
    ENSEMBL proteins: 
     ENSP00000229829   ENSP00000363946   ENSP00000403896  
    Reactome Protein details: P06340
    Human Recombinant Protein Products for HLA-DOA: 
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    Novus Biologicals HLA-DOA Proteins
    Novus Biologicals HLA-DOA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005765lysosomal membrane TAS--
    GO:0005886plasma membrane TAS3000765
    GO:0010008endosome membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    HLA-DOA for ontologies           About GeneDecksing



    HLA-DOA Antibody Products: 
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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 P06340

    ProtoNet protein and cluster: P06340

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


    UniProtKB/Swiss-Prot: DOA_HUMAN, P06340
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    HLA-DOA 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: DOA_HUMAN, P06340
    Function: Important modulator in the HLA class II restricted antigen presentation pathway by interaction with the
    HLA-DM molecule in B-cells. Modifies peptide exchange activity of HLA-DM

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0032395MHC class II receptor activity TAS3000765
         
    HLA-DOA for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for H2-Oa):
     hematopoietic system  immune system 

    HLA-DOA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out H2-OaH2-tm1Lkar for HLA-DOA

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HLA-DOA 
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate HLA-DOA:
    hsa-miR-203 hsa-miR-3132 hsa-miR-922 hsa-miR-4251 hsa-miR-532-3p hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidHLA-DOA 3' UTR sequence
    Inhib. RNA
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    Clone
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    Sino Biological Human cDNA Clone for HLA-DOA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-DOA
    Sirion Biotech Customized lentivirus for stable overexpression of HLA-DOA 
                         Customized lentivirus expression plasmids for stable overexpression of HLA-DOA 

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DOA


    (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-DOA About   (see all 24)                                                                                              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-DOA (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-DOA (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-DOA (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


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


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


    HLA-DOA for pathways           About GeneDecksing

    Interactions:

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

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for HLA-DOA (P063403 ENSP000002298294) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-DMAENSP000003639764STRING: ENSP00000363976
    --Q6ICR93I2D: score=2 
    About this table

    Gene Ontology (GO): 5 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--
    GO:0045580regulation of T cell differentiation IEA--

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

    Browse Tocris compounds for HLA-DOA (DOA)

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

    (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-DOA gene: 
    NM_002119.3  

    Unigene Cluster for HLA-DOA:

    Major histocompatibility complex, class II, DO alpha
    Hs.631991  [show with all ESTs]
    Unigene Representative Sequence: NM_002119
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000229829(uc003ocr.3 uc010juj.3 uc010jui.3) ENST00000490305
    ENST00000485901 ENST00000495532 ENST00000374813 ENST00000467465 ENST00000450833

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate HLA-DOA:
    hsa-miR-203 hsa-miR-3132 hsa-miR-922 hsa-miR-4251 hsa-miR-532-3p hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidHLA-DOA 3' UTR sequence
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    Additional mRNA sequence: 

    AJ420585.1 AK290714.1 AK301404.1 AK310153.1 AK313551.1 BC013183.1 M26039.1 M29335.1 
    M31525.1 M38054.1 M38056.1 

    6 DOTS entries:

    DT.409221  DT.40115327  DT.86847068  DT.92422220  DT.86847067  DT.95201674 

    24/121 AceView cDNA sequences (see all 121):

    AI357064 AI701344 AI719842 CK300899 AI474796 M38056 CA437002 M38054 
    CB529458 AA827172 AI886812 BG758063 BQ016622 BQ182553 AI627561 AI866383 
    AI372080 AI287916 AA663927 AA485172 BX108461 AA935283 AA721167 AI096854 

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


    HLA-DOA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
             brain/midbrain/lateral wall   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Medulla Oblongata
             brain/midbrain/lateral wall   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             CD19+ B Cells   
             BONE MARROW   
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             LYMPH NODE   
     
     Bone (Muscoskeletal System)
             BONE MARROW   

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

    SOURCE GeneReport for Unigene cluster: Hs.631991
        SABiosciences Custom PCR Arrays for HLA-DOA
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-DOA
    In Situ
    Assay Products:
     

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

    (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-DOA 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-Oa1 , 5 histocompatibility 2, O region alpha locus1, 5 80.13(n)1
    73.2(a)1
      17 (17.98 cM)5
    150011  NM_008206.21  NP_032232.21 
     340923405 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    48(a)
    45(a)
    (see all 3)
    possible ortholog
    possible ortholog
    (see all 3)
    GL343775.1(20845-38928)
    GL343809.1(2435-3996)
    zebrafish
    (Danio rerio)
    Actinopterygii si:ch73-211l2.36
    si:busm1-266f07.26
    (see all 10)
    si:busm1-266f07.2
    (see all 10)
    31(a)
    27(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    8(47078720-47080882)
    8(37539907-37543263)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HLA-DOA gene
    HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DRB12  HLA-DOB2  HLA-DMA2  
    HLA-DQB22  ENSG000002489932  HLA-DMB2  HLA-DQA22  HLA-DPB12  
    18/24 SIMAP similar genes for HLA-DOA using alignment to 3 protein entries:     DOA_HUMAN (see all proteins) (see all similar genes):
    DQ-A1    HLA-DQA1/DRA    HLA-DPA1    HLA-DQA2    HLA-DQA1    HLA-DRA1
    DQA1-0103    HLA-DRA    HLA DRB4    HLA-DRB4*0102    HLA-DRB4    HLA-DRB5
    HLA-DRB1    HLA-DQB1    HLA    IGLC6    HLA-DMA    DMA

    HLA-DOA 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: DOA_HUMAN, P06340
    Polymorphism: The following alleles of DOA are known: DOA*01:01, DOA*01:02 and DOA*01:03. The sequence shown is
    that of DOA*01:01


    10/271 SNPs in HLA-DOA are shown (see all 271)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs92802591,2
    C--32716495(+) TAGGG-/AAAAGT 1 -- ut312Minor allele frequency- A:0.25NA 4
    rs2021906371,2
    C--32718523(-) AGACTA/C/G/
            
    CCGCC
    4 T P A S mis10--------
    rs2000722281,2
    C--32718542(-) CTTCCA/C/G/
            
    CACAT
    4 E D mis1 syn10--------
    rs1995386431,2
    C--32718543(-) TCTTCA/C/G/
            
    CCACA
    4 D A G V mis10--------
    rs2011781111,2
    C--32718544(-) CTCTTA/C/G/
            
    ACCAC
    4 N H D Y mis10--------
    rs172205351,2
    C,F--32887724(+) AGAGCG/ATGACC 1 -- ds50011Minor allele frequency- A:0.04MN 56
    rs1874059651,2
    C--32887750(+) AGGGAA/GACTGG 1 -- ds50010--------
    rs1167835961,2
    C,F--32887776(+) AGGATT/CTGATG 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs172141341,2
    C,F,H--32887798(+) TAGGAG/AAGATG 1 -- ds50014Minor allele frequency- A:0.02MN NS NA 460
    rs31289311,2
    C,F,O,A,H--32887824(+) GTAGGG/ATGACC 1 -- ds500131Minor allele frequency- A:0.35NS EA MN NA WA CSA 3413

    HapMap Linkage Disequilibrium report for HLA-DOA (32971955 - 32977389 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for HLA-DOA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv483081CNV Loss15286789


    Human Gene Mutation Database (HGMD): HLA-DOA

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

    (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: 142930    OMIM disorders: --

    20/21 diseases for HLA-DOA (see all 21):    About MalaCards
    alopecia universalis    vogt-koyanagi-harada disease    toxoplasmosis    alopecia
    autoimmune thyroiditis    leishmaniasis    myocarditis    graft versus host disease
    systemic lupus erythematosus    influenza    kaposi's sarcoma    lupus erythematosus
    asthma    hepatitis b    rheumatoid arthritis    diabetes mellitus
    thyroiditis    arthritis    sarcoma    hepatitis


    HLA-DOA for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for HLA-DOA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hla-do 97.7 1 11823510 (1)

    Genetic Association Database (GAD): HLA-DOA
    Human Genome Epidemiology (HuGE) Navigator: HLA-DOA (12 documents)

    Export disorders for HLA-DOA 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-DOA gene, integrated from 9 sources (see all 77):
    (articles sorted by number of sources associating them with HLA-DOA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The HLA-DNA (DZA) gene is correctly expressed as a 1.1 kb mature mRNA transcript. (PubMed id 2370084)1, 2, 3 Young J.A. and Trowsdale J. (1990)
    2. Limited polymorphism in the HLA-DOA gene. (PubMed id 10323340)1, 2, 9 Naruse T.K.... Inoko H. (1999)
    3. New gene functions in megakaryopoiesis and platelet fo rmation. (PubMed id 22139419)1, 4 Gieger C....Soranzo N. (2011)
    4. Genetic association of htSNPs across the major histoc ompatibility complex with rheumatoid arthritis in an African-American populatio n. (PubMed id 19741715)1, 4 Reynolds R.J....Bridges S.L. (2010)
    5. 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)
    6. Exploring the diabetogenicity of the HLA-B18-DR3 CEH: independent association with T1D genetic risk close to HLA-DOA. (PubMed id 19458622)1, 4 Santin I....Bilbao J.R. (2009)
    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. Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection. (PubMed id 18639552)1, 4 Sindhi R....Ferrell R. (2008)
    9. Identification of four novel HLA-DOA alleles, DOA*010106, DOA*0102, DOA*0103, and DOA*0104N, by sequence-based typing*. (PubMed id 16101837)1, 2 Moon S.M.... Oh B. (2005)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (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: 3111 HGNC: 4936 AceView: HLA-DOA Ensembl:ENSG00000204252 euGenes: HUgn3111
    ECgene: HLA-DOA Kegg: 3111 H-InvDB: HLA-DOA

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

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



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