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HLA-DOB Gene

protein-coding   GIFtS: 60
GCID: GC06M032780

Major Histocompatibility Complex, Class II, DO Beta
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Aliases
for HLA-DOB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Major Histocompatibility Complex, Class II, DO Beta1 2
MHC Class II Antigen DOB2 3
DOB2
HLA Class II Histocompatibility Antigen, DO Beta Chain2

External Ids:    HGNC: 49371   Entrez Gene: 31122   Ensembl: ENSG000002411067   OMIM: 6006295   UniProtKB: P137653   

Export aliases for HLA-DOB gene to outside databases

Previous GC identifers: GC06M032777 GC06M032551 GC06M032827 GC06M032888 GC06M032523


Summaries
for HLA-DOB gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for HLA-DOB Gene:
HLA-DOB belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of
an alpha (DOA) and a beta chain (DOB), both anchored in the membrane. It is located in intracellular vesicles. DO
suppresses peptide loading of MHC class II molecules by inhibiting HLA-DM. 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-DOB Gene:
HLA-DOB (major histocompatibility complex, class II, DO beta) is a protein-coding gene. Diseases associated with HLA-DOB include hemorrhagic fever with renal syndrome, and toxoplasmosis. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DRB5.

UniProtKB/Swiss-Prot: DOB_HUMAN, P13765
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-DOB Gene


Genomic Views
for HLA-DOB 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NC_018917.2  NT_007592.16  NT_113891.3  NT_167244.2  NT_167245.2  NT_167247.2  NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HLA-DOB gene promoter:
         Max   STAT1   AP-1   Tal-1beta   E47   GATA-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HLA-DOB promoter sequence
   Search Chromatin IP Primers for HLA-DOB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HLA-DOB


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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032780:  view genomic region     (about GC identifiers)

Start:
 32,780,540 bp from pter      End:
 32,784,825 bp from pter
Size:
 4,286 bases      Orientation:
 minus strand

5 alternative locations:
Chr6-,NT_167245 4,062,066-4,066,351      Chr6-,NT_167247 4,117,441-4,121,726      Chr6-,NT_167249 4,211,473-4,215,758     
Chr6-,NT_167244 4,067,703-4,071,988      Chr6-,NT_113891.2 4,225,070-4,229,355     

Proteins
for HLA-DOB gene

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DOB_HUMAN, P13765 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DO beta chain precursor  
Size: 273 amino acids; 30822 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
1 PDB 3D structure from and Proteopedia for HLA-DOB:
4I0P (3D)    
Secondary accessions: B0V0Y0 Q29746 Q29825 Q6FHC2

Explore the universe of human proteins at neXtProt for HLA-DOB: NX_P13765

Explore proteomics data for HLA-DOB at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn45
  • Modification sites at PhosphoSitePlus

    • See HLA-DOB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002111.1  
    ENSEMBL proteins: 
     ENSP00000436618   ENSP00000390020   ENSP00000394860  
    Reactome Protein details: P13765

    HLA-DOB Human Recombinant Protein Products:

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    Novus Biologicals HLA-DOB Protein
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    HLA-DOB Antibody Products:

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    Abcam antibodies for HLA-DOB
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    LSBio Antibodies in human, mouse, rat for HLA-DOB

    HLA-DOB Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.

    Domains /
    Families
    for HLA-DOB gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 HGNC Gene Families:
    HLA: Histocompatibility complex
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    Selected 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 P13765

    ProtoNet protein and cluster: P13765

    3 Blocks protein domains:
    IPB000353 Class II histocompatibility antigen
    IPB001003 MHC Class II alpha chain
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: DOB_HUMAN, P13765
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    HLA-DOB for domains           About GeneDecksing


    Function
    for HLA-DOB gene

    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DOB_HUMAN, P13765
    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

         Genatlas biochemistry entry for HLA-DOB:
    HLA-DO,alpha chain,expressed in B cell lysosomes,heterodimerizing with HLA-DNA to form HLA-DO,acting as a
    co-chaperone of HLA-DM in peptide loading of MHC class II molecules

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0032395MHC class II receptor activity TAS2998758
         
    HLA-DOB for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HLA-DOB:
     Synthetic lethal with Ras  Wnt reporter downregulated 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HLA-DOB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HLA-DOB

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

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat HLA-DOB using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate HLA-DOB:
    hsa-miR-3154 hsa-miR-589* hsa-miR-3155 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmid: HLA-DOB 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for HLA-DOB
    Predesigned siRNA for gene silencing in human, mouse, rat HLA-DOB

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: HLA-DOB (NM_002120)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-DOB

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


    Localization
    for HLA-DOB gene

    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

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    Subcellular locations from UniProtKB/Swiss-Prot
    DOB_HUMAN, P13765: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    vacuole5
    plasma membrane3
    extracellular2
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005764lysosome IDA8890155
    GO:0005765lysosomal membrane TAS--
    GO:0010008endosome membrane IEA--
    GO:0016020membrane ----

    HLA-DOB for ontologies           About GeneDecksing


    Pathways & Interactions
    for HLA-DOB gene

    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for HLA-DOB About   (see all 20)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Allograft rejection
    		Allograft rejection0.86
    		Intestinal immune network for IgA production0.41
    		Allograft Rejection0.86
    		Viral myocarditis0.40
    		Type I diabetes mellitus0.69
    		CTL Mediated Apoptosis0.38
    		Graft-versus-host disease0.65
    		THC Differentiation Pathway0.38
    2Immune response Antigen presentation by MHC class II
    		Immune response Antigen presentation by MHC class II0.46
    		Immune response IL 22 signaling pathway0.31
    		G protein signaling N RAS regulation pathway0.46
    3ICos-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
    4TCR Signaling (Qiagen)
    		PKC-Theta Pathway0.68
    		ITK and TCR Signaling0.54
    		TCR Signaling0.68
    5Immune response NFAT in immune response
    		Immune response NFAT in immune response0.55
    		Immune response T cell receptor signaling pathway0.50
    		Immune response ICOS pathway in T helper cell0.55

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    Selected GeneGo (Thomson Reuters) Pathways for HLA-DOB (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-DOB
        Allograft Rejection

    1 Reactome Pathway for HLA-DOB
        MHC class II antigen presentation


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


    HLA-DOB for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HLA-DOB
    Interactions:

        Search GeneGlobe Interaction Network for HLA-DOB

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

    Selected Interacting proteins for HLA-DOB (P137653 ENSP000003900204) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000242092P280683, ENSP000003787234I2D: score=1 STRING: ENSP00000378723
    ENSG00000226264P280683I2D: score=1 
    ENSG00000234154P280683I2D: score=1 
    ENSG00000239329P280683I2D: score=1 
    ENSG00000241296P280683I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response IEA--
    GO:0007165signal transduction TAS2998758
    GO:0019882antigen processing and presentation ----
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    HLA-DOB for ontologies           About GeneDecksing



    Drugs & Compounds
    for HLA-DOB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HLA-DOB (DOB)



    Transcripts
    for HLA-DOB gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HLA-DOB gene: 
    NM_002120.3  

    Unigene Cluster for HLA-DOB:

    Major histocompatibility complex, class II, DO beta
    Hs.1802  [show with all ESTs]
    Unigene Representative Sequence: NM_002120
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000488325 ENST00000438763(uc003oca.3) ENST00000475235(uc011dqg.1)
    ENST00000447394
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate HLA-DOB:
    hsa-miR-3154 hsa-miR-589* hsa-miR-3155 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmid: HLA-DOB 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat HLA-DOB
      QuantiFast Probe-based Assays in human, mouse, rat HLA-DOB

    Additional mRNA sequence: 

    AK301415.1 AK316197.1 AY645723.1 BC006097.1 CR541811.1 CR541832.1 M26040.1 X03066.1 

    5 DOTS entries:

    DT.310888  DT.91742642  DT.100746985  DT.100017637  DT.100746986 

    Selected AceView cDNA sequences (see all 65):

    BX280166 BM464640 BM467491 M26040 C02501 BV178266 BC020226 AW469119 
    BF795118 BQ010608 BX504925 AW518149 BI768754 BG398592 BC006097 CR541811 
    CR541832 AW628070 BV167741 BI772460 AI144456 BQ016229 BI771083 AI629032 

    GeneLoc Exon Structure


    Expression
    for HLA-DOB gene

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    HLA-DOB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Adipose (Muscoskeletal System)
             Body Subcutaneous White Adipose
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
    HLA-DOB Protein expression data from MOPED1, PaxDb2 and MaxQB3:     About this image

    HLA-DOB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1802
        Custom PCR Arrays for HLA-DOB
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DOB

    Orthologs
    for HLA-DOB gene

    (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

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    This gene was present in the common ancestor of human and mouse.

    Orthologs for HLA-DOB gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia H2-Ob1 , 5 histocompatibility 2, O region beta locus1, 5 81.11(n)1
    75.56(a)1    		   17 (17.98 cM)5
    150021  NM_010389.31  NP_034519.21 
     342389035 


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

    Paralogs
    for HLA-DOB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for HLA-DOB gene
    HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DQB12  HLA-DRA2  HLA-DRB12  HLA-DMA2  HLA-DQB22  
    HLA-DOA2  ENSG000002489932  HLA-DMB2  HLA-DQA22  HLA-DPB12  
    Selected SIMAP similar genes for HLA-DOB using alignment to 6 protein entries:     DOB_HUMAN (see all proteins) (see all similar genes):
    HLA DRB4    HLA-DQB1I    HLA-DRB4*0102    HLA-DQB1*06new1    MHC class II HLA-DRB1 Exon-2    HLA-DQB1*03
    HLA-DQB1/DRB1    HLA-DR4/Dw13    HLA-DRB13    HLA-DRB4    DQB1.SLE    DQB1
    HLQ-DQB1    HLA-DQB1*06x    HLA-DR-beta 1    DQB1-02    DRB1*0405V3    HLA-DR beta

    HLA-DOB for paralogs           About GeneDecksing



    Genomic Variants
    for HLA-DOB gene

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    DOB_HUMAN, P13765: The following alleles of DOB are known: DOB*01:01, DOB*01:02, DOB*01:03 and DOB*01:04. The sequence
    shown is that of DOB*01:01


    Selected SNPs for HLA-DOB (see all 203)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 6 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1864944031,2
    		--32780085(+) CACCAC/TGTATA 1 -- ds50010--------
    rs1917982521,2
    		--32780089(+) ACGTAC/TAGATT 1 -- ds50010--------
    rs587205411,2
    		C--32780117(+) ACCAG-/AGTCTGA 1 -- ds50010--------
    rs92768071,2
    		C,F--32780156(+) TTTGCG/AGGAGG 1 -- ds50017Minor allele frequency- A:0.29WA NA CSA EA 366
    rs28571131,2
    		C,F,A,H--32780201(-) gctgcA/Gtacac 1 -- ds50019Minor allele frequency- G:0.33WA NA CSA EA 372
    rs1404270831,2
    		--32780223(+) AGAGTA/GTGGGA 1 -- ds50010--------
    rs340227941,2
    		C--32780281(+) GGGGG-/AAAAAA 1 -- ds50010--------
    rs28571121,2
    		C,H--32780294(-) CCCCCA/TTCAGC 1 -- ds50013Minor allele frequency- T:0.08NA WA 240
    rs26213321,2
    		C,F,A,H--32780317(-) TCTCTT/CATACT 1 -- ds500123Minor allele frequency- C:0.32NS EA WA NA CSA 2782
    rs1496652591,2
    		C--32780346(+) TGTGGA/CGTCCA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for HLA-DOB (32780540 - 32784825 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for HLA-DOB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv510024CNV Loss20534489
    nsv511120CNV Complex20534489

    Locus Specific Mutation Databases (LSDB): HLA-DOB

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HLA-DOB
    DNA2.0 Custom Variant and Variant Library Synthesis for HLA-DOB

    Disorders / Diseases
    for HLA-DOB gene

    (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.)
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    OMIM gene information: 600629    OMIM disorders: --

    Selected diseases for HLA-DOB (see all 25):    
    About MalaCards
    hemorrhagic fever with renal syndrome    toxoplasmosis    kawasaki disease    myocarditis
    autoimmune thyroiditis    hemorrhagic fever    kaposi's sarcoma    hiv-1
    leishmaniasis    graft versus host disease    systemic lupus erythematosus    influenza
    tuberculosis    lupus erythematosus    sarcoma    asthma
    diabetes mellitus    hepatitis b    herpes simplex    thyroiditis

    2 diseases from the University of Copenhagen DISEASES database for HLA-DOB:
    Hemorrhagic fever with renal syndrome     Heart disease

    HLA-DOB for disorders           About GeneDecksing

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

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hla-do 96.1 2 11823510 (2)

    Genetic Association Database (GAD): HLA-DOB
    Human Genome Epidemiology (HuGE) Navigator: HLA-DOB (7 documents)

    Export disorders for HLA-DOB gene to outside databases

    Publications
    for HLA-DOB gene

    (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)
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    PubMed articles for HLA-DOB gene, integrated from 10 sources (see all 74):
    (articles sorted by number of sources associating them with HLA-DOB)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The HLA-DOB gene displays limited polymorphism with only one amino acid substitution. (PubMed id 12445321)1, 2, 9 Naruse T.K....Tatsumi N. (Tissue Antigens 2002)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (PLoS Genet. 2009)
    4. 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. (Genome Res. 2004)
    5. Evolutionary dynamics of non-coding sequences within the class II region of the human MHC. (PubMed id 8568858)1, 2 Beck S.... Trowsdale J. (J. Mol. Biol. 1996)
    6. DNA sequence analysis of 66 kb of the human MHC class II region encoding a cluster of genes for antigen processing. (PubMed id 1453454)1, 2 Beck S....Trowsdale J. (J. Mol. Biol. 1992)
    7. Human class II DNA and DOB genes display low sequence variability. (PubMed id 2499532)1, 2 Jonsson A.-K. and Rask L. (Immunogenetics 1989)
    8. Class II genes of the human major histocompatibility complex. The DO beta gene is a divergent member of the class II beta gene family. (PubMed id 3036827)1, 2 Servenius B.... Peterson P.A. (J. Biol. Chem. 1987)
    9. DO beta: a new beta chain gene in HLA-D with a distinct regulation of expression. (PubMed id 2998758)1, 2 Tonnelle C.... Long E.O. (EMBO J. 1985)
    10. Class II transactivator is required for maximal expression of HLA-DOB in B cells. (PubMed id 11823510)1, 9 Nagarajan U.M....Boss J.M. (J. Immunol. 2002)

    External Searches for HLA-DOB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing HLA-DOB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3112 HGNC: 4937 AceView: HLA-DOB Ensembl:ENSG00000241106 euGenes: HUgn3112
    ECgene: HLA-DOB Kegg: 3112 H-InvDB: HLA-DOB

    Other Databases showing HLA-DOB gene

    (According to HUGE)
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    Specialized Databases showing HLA-DOB gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for HLA-DOB Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for HLA-DOB gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for HLA-DOB gene:
    Search GeneIP for patents involving HLA-DOB

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



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