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HLA-DQB1 Gene

protein-coding   GIFtS: 66
GCID: GC06M032629

Major Histocompatibility Complex, Class II, DQ Beta 1


(Previous symbol: HLA-DQB)
  See HLA-DQB1-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)
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Aliases
Major Histocompatibility Complex, Class II, DQ Beta 11 2     Lymphocyte Antigen2
HLA-DQB1 2 3     MHC Class II Antigen HLA-DQ-Beta-12
MHC Class II Antigen DQB12 3     MHC Class II DQ Beta Chain2
CELIAC12 5     MHC Class II HLA-DQ Beta Glycoprotein2
IDDM12     MHC Class2 Antigen2
HLA Class II Histocompatibility Antigen, DQ Beta 1 Chain2     MHC DQ Beta2

External Ids:    HGNC: 49441   Entrez Gene: 31192   Ensembl: ENSG000001793447   OMIM: 6043055   UniProtKB: P019203   

Export aliases for HLA-DQB1 gene to outside databases

Previous GC identifers: GC06U990046 GC06M032623 GC06M032398 GC06M032675 GC06M032678 GC06M032727 GC06M032735


(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-DQB1 Gene:
HLA-DQB1 belongs to the HLA class II beta chain paralogs. This class II molecule is a heterodimer consisting of an
alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system
by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen
presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The beta chain is approximately 26-28 kDa
and it contains six exons. Exon 1 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. Within the DQ molecule both the
alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting
in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow
transplantation. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Sep 2011)

GeneCards Summary for HLA-DQB1 Gene:
HLA-DQB1 (major histocompatibility complex, class II, DQ beta 1) is a protein-coding gene. Diseases associated with HLA-DQB1 include variant creutzfeldt-jakob disease, and celiac disease. GO annotations related to this gene include MHC class II receptor activity. An important paralog of this gene is HLA-DRB5.

UniProtKB/Swiss-Prot: DQB1_HUMAN, P01920
Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC)
and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates
peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation
of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
(class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the
regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
efficient peptide loading

Gene Wiki entry for HLA-DQB1 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 at NCBI GenBank:
NC_000006.11  NC_018917.2  NT_007592.16  NT_113891.3  NT_167245.2  NT_167246.2  NT_167247.2  NT_167248.2  
NT_167249.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HLA-DQB1 gene promoter:
         HOXA9   c-Fos   AML1a   AP-1   XBP-1   HNF-4alpha2   HNF-4alpha1   PPAR-alpha   c-Jun   Meis-1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for HLA-DQB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HLA-DQB1


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-DQB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLA-DQB1 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032629:  view genomic region     (about GC identifiers)

Start:
32,627,244 bp from pter      End:
32,636,160 bp from pter
Size:
8,917 bases      Orientation:
minus strand

6 alternative locations:
Chr6-,NT_167248 3,859,381-3,866,565      Chr6-,NT_113891.2 4,072,927-4,080,111      Chr6-,NT_167249 4,056,409-4,063,238     
Chr6-,NT_167247 3,961,832-3,968,769      Chr6-,NT_167246 4,082,950-4,090,131      Chr6-,NT_167245 3,906,294-3,913,122     

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DQB1_HUMAN, P01920 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DQ beta 1 chain precursor  
Size: 261 amino acids; 29991 Da
Subunit: Heterodimer of an alpha and a beta subunit; also referred as MHC class II molecule. In the endoplasmic
reticulum (ER) it forms a heterononamer; 3 MHC class II molecules bind to a CD74 homotrimer (also known as
invariant chain or HLA class II histocompatibility antigen gamma chain). In the endosomal/lysosomal system; CD74
undergoes sequential degradation by various proteases; leaving a small fragment termed CLIP on each MHC class II
molecule. MHC class II molecule interacts with HLA_DM, and HLA_DO in B-cells, in order to release CLIP and
facilitate the binding of antigenic peptides
Sequence caution: Sequence=AAC64403.2; Type=Erroneous gene model prediction; Sequence=CAJ57391.1; Type=Erroneous
gene model prediction;
6 PDB 3D structures from and Proteopedia for HLA-DQB1:
1JK8 (3D)        1NBN (3D)        1S9V (3D)        1UVQ (3D)        2NNA (3D)        4GG6 (3D)    
Secondary accessions: A1KR27 A2RPH3 A4Q9R4 A4USG2 A4USG5 A6N8I7 A9YQA0 B0S7Y7 B1A0K6 B1GXI3
B3VLT3 B5BLN7 B7VU69 C0MQ34 C0MQ35 C8ZL52 C8ZLJ8 C8ZLJ9 C9DRQ3 O19708 O19713 O19724 O62861
O78046 O78221 O78223 O98034 O98201 P01917 P01918 P01919 P03992 P05537 P79482 P79526 P79544
P79551 Q08GC8 Q09035 Q0E4V9 Q1M312 Q29731 Q29877 Q29884 Q29915 Q29966 Q2P9N3 Q2QK85 Q30061
Q30075 Q30076 Q30080 Q30081 Q30082 Q30083 Q30084 Q30089 Q30095 Q31633 Q38I47 Q45UE3 Q4QZB5
Q53I44 Q564J6 Q5G841 Q5ISH1 Q5ISH3 Q5W1E1 Q5Y7G8 Q643R4 Q6B9X1 Q70VH8 Q7YP69 Q8HWH0 Q8MH58
Q8SNB4 Q8SND1 Q8SP70 Q8WMA3 Q9BD17 Q9MYH2 Q9TPA9 Q9XRY6 Q9XRY7 Q9XRZ2

Explore the universe of human proteins at neXtProt for HLA-DQB1: NX_P01920

Explore proteomics data for HLA-DQB1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn51
  • Modification sites at PhosphoSitePlus

  • See HLA-DQB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001230890.1  NP_001230891.1  NP_002114.3  

    ENSEMBL proteins: 
     ENSP00000382032   ENSP00000382029   ENSP00000364080   ENSP00000407332   ENSP00000382034  
     ENSP00000436686  
    Reactome Protein details: P01920

    HLA-DQB1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for HLA-DQB1
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    Novus Biologicals HLA-DQB1 Proteins
    Novus Biologicals HLA-DQB1 Lysates
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for HLA-DQB1 

     
    antibodies-online proteins for HLA-DQB1 (8 products) 

     
    Search antibodies-online for peptides for HLA-DQB1

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    HLA-DQB1 Assay Products:

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    antibodies-online kits for HLA-DQB1 (2 products) 


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

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    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 P01920

    ProtoNet protein and cluster: P01920

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


    UniProtKB/Swiss-Prot: DQB1_HUMAN, P01920
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    Find genes that share domains with HLA-DQB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DQB1_HUMAN, P01920
    Function: Binds peptides derived from antigens that access the endocytic route of antigen presenting cells (APC)
    and presents them on the cell surface for recognition by the CD4 T-cells. The peptide binding cleft accommodates
    peptides of 10-30 residues. The peptides presented by MHC class II molecules are generated mostly by degradation
    of proteins that access the endocytic route, where they are processed by lysosomal proteases and other
    hydrolases. Exogenous antigens that have been endocytosed by the APC are thus readily available for presentation
    via MHC II molecules, and for this reason this antigen presentation pathway is usually referred to as exogenous.
    As membrane proteins on their way to degradation in lysosomes as part of their normal turn-over are also
    contained in the endosomal/lysosomal compartments, exogenous antigens must compete with those derived from
    endogenous components. Autophagy is also a source of endogenous peptides, autophagosomes constitutively fuse with
    MHC class II loading compartments. In addition to APCs, other cells of the gastrointestinal tract, such as
    epithelial cells, express MHC class II molecules and CD74 and act as APCs, which is an unusual trait of the GI
    tract. To produce a MHC class II molecule that presents an antigen, three MHC class II molecules (heterodimers of
    an alpha and a beta chain) associate with a CD74 trimer in the ER to form a heterononamer. Soon after the entry
    of this complex into the endosomal/lysosomal system where antigen processing occurs, CD74 undergoes a sequential
    degradation by various proteases, including CTSS and CTSL, leaving a small fragment termed CLIP
    (class-II-associated invariant chain peptide). The removal of CLIP is facilitated by HLA-DM via direct binding to
    the alpha-beta-CLIP complex so that CLIP is released. HLA-DM stabilizes MHC class II molecules until primary high
    affinity antigenic peptides are bound. The MHC II molecule bound to a peptide is then transported to the cell
    membrane surface. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
    Primary dendritic cells (DCs) also to express HLA-DO. Lysosomal microenvironment has been implicated in the
    regulation of antigen loading into MHC II molecules, increased acidification produces increased proteolysis and
    efficient peptide loading

         Genatlas biochemistry entry for HLA-DQB1:
    HLA-DQ,beta chain

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0032395MHC class II receptor activity NAS2998758
         
    Find genes that share ontologies with HLA-DQB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for HLA-DQB1:
     Increased HDAC inhibitor resis 

         Selected MGI mutant phenotypes (inferred from 9 alleles(MGI details for H2-Ab1) (see all 17):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland 
     growth/size/body  hematopoietic system  homeostasis/metabolism  immune system  liver/biliary system 
     mortality/aging  muscle  nervous system  normal  renal/urinary system 

    Find genes that share phenotypes with HLA-DQB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for HLA-DQB1: H2-Ab1H2-tm1Doi H2-Ab1H2-tm1.1Koni H2-Ab1H2-tm1Gru

       genOway: Develop your customized and physiologically relevant rodent model for HLA-DQB1

    miRNA
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    Block miRNA regulation of human, mouse, rat HLA-DQB1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate HLA-DQB1:
    hsa-miR-152 hsa-miR-148b hsa-miR-944 hsa-miR-148a
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
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    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for HLA-DQB1

    Clone
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    GenScript: all cDNA clones in your preferred vector: HLA-DQB1 (NM_002123)
    Sino Biological Human cDNA Clone for HLA-DQB1
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    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DQB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DQB1_HUMAN, P01920: Cell membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane;
    Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network membrane; Single-pass type I membrane
    protein. Endosome membrane; Single-pass type I membrane protein. Lysosome membrane; Single-pass type I membrane
    protein. Note=The MHC class II complex transits through a number of intracellular compartments in the endocytic
    pathway until it reaches the cell membrane for antigen presentation
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    endosome5
    lysosome5
    plasma membrane5
    vacuole5
    golgi apparatus4
    mitochondrion2
    extracellular1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005886plasma membrane TAS--
    GO:0010008endosome membrane IEA--
    GO:0012507ER to Golgi transport vesicle membrane TAS--

    Find genes that share ontologies with HLA-DQB1           About GenesLikeMe


    (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-DQB1 About   (see all 25)  
    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
    2CD28 co-stimulation
    Costimulation by the CD28 family0.44
    CTLA4 Signaling0.30
    3Translocation of ZAP-70 to Immunological synapse
    Translocation of ZAP-70 to Immunological synapse0.83
    PD-1 signaling0.72
    Phosphorylation of CD3 and TCR zeta chains0.83
    Generation of second messenger molecules0.62
    4Immune 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
    5ICos-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


    Find genes that share SuperPaths with HLA-DQB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HLA-DQB1 (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-DQB1 (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-DQB1
        Allograft Rejection

    1 Sino Biological Pathway for HLA-DQB1
        NF-kB (NFkB) Pathway

    Selected Reactome Pathways for HLA-DQB1 (see all 7)
        Translocation of ZAP-70 to Immunological synapse
    Interferon gamma signaling
    Downstream TCR signaling
    PD-1 signaling
    MHC class II antigen presentation


    Selected Kegg Pathways  (Kegg details for HLA-DQB1) (see all 21):
        Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Intestinal immune network for IgA production
    Type I diabetes mellitus

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HLA-DQB1
    Interactions:

        GeneGlobe Interaction Network for HLA-DQB1

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

    Selected Interacting proteins for HLA-DQB1 (P019202, 3 ENSP000003820344) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-DQA1P019092, 3, ENSP000003393984MINT-24807 I2D: score=6 STRING: ENSP00000339398
    ENSG00000206305P019092, 3MINT-24807 I2D: score=6 
    ENSG00000232062P019092, 3MINT-24807 I2D: score=6 
    HLA-DQA2P019063, ENSP000003640764I2D: score=1 STRING: ENSP00000364076
    ENSG00000204276P019063I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002381immunoglobulin production involved in immunoglobulin mediated immune response IDA17050030
    GO:0002455humoral immune response mediated by circulating immunoglobulin IDA17050030
    GO:0002504antigen processing and presentation of peptide or polysaccharide antigen via MHC class II ----
    GO:0006955immune response NAS2998758
    GO:0019221cytokine-mediated signaling pathway TAS--

    Find genes that share ontologies with HLA-DQB1           About GenesLikeMe



    (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-DQB1 (DQB1)

    1 DrugBank Compound for HLA-DQB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Insulin, porcine-- 9004-14-2target--1728861 17016423 10592235 17139284 1612232

    Selected Novoseek inferred chemical compound relationships for HLA-DQB1 gene (see all 11)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    oligonucleotide 39.7 4 8117375 (1), 15256073 (1), 8725357 (1), 8469933 (1)
    gliadin 37.8 1 8753854 (1)
    apai 37.3 1 10887689 (1)
    bamhi 33.4 1 7913961 (1)
    glutamate 15.8 4 11168337 (1), 11921419 (1), 11474874 (1), 16025255 (1)
    ecori 11.3 1 7913961 (1)
    glutamine 2.96 2 1359021 (1), 1926129 (1)
    nickel 0 1 8725357 (1)
    tyrosine 0 1 11921419 (1)
    histidine 0 2 11895452 (1), 7754945 (1)

    2 PharmGKB related drug/compound annotations for HLA-DQB1 gene    About this table
    Drug/compound PharmGKB Annotation
    amoxicillinCA  
    clavulanateCA  



    Find genes that share compounds with HLA-DQB1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for HLA-DQB1 gene (3 alternative transcripts): 
    NM_001243961.1  NM_001243962.1  NM_002123.4  

    Unigene Cluster for HLA-DQB1:

    Major histocompatibility complex, class II, DQ beta 1
    Hs.409934  [show with all ESTs]
    Unigene Representative Sequence: AB209638
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487676(uc011dqe.2) ENST00000399082 ENST00000399079 ENST00000374943(uc021yvz.1)
    ENST00000434651(uc010juc.2 uc003obw.3 uc011dqd.2) ENST00000399084
    ENST00000460185 ENST00000484729
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat HLA-DQB1

    Additional mRNA sequence: 

    AB209638.1 AF000447.1 AF113250.1 AF195245.1 AF291674.1 AK097297.1 AK295255.1 AK295476.1 
    AK295695.1 AK296060.1 AK296613.1 AK304543.1 AK316333.1 AY656681.1 AY656682.1 AY656683.1 
    BC012106.1 BC128594.1 BC128595.1 BC150555.1 BC150556.1 DQ136036.1 J00198.1 L34095.1 
    L34096.1 L34097.1 L34098.1 L34099.1 L34100.1 L34101.1 L34102.1 L34103.1 
    L34104.1 L34105.1 L34106.1 L34107.1 L40179.1 L40180.1 L40181.1 L42626.1 
    M13279.1 M14189.1 M16276.1 M16996.1 M17204.1 M17206.1 M17207.1 M17563.1 
    M17564.1 M17565.1 M17955.1 M19239.1 M20432.1 M20505.1 M21135.1 M22549.1 
    M22550.1 M24364.1 M25325.1 M25326.1 M25327.1 M25328.1 M26042.1 M32577.1 
    M33907.1 M35730.1 M35731.1 M35982.1 M57650.1 M59800.1 M59801.1 M60028.1 
    M81140.1 M81141.1 M83770.1 U63321.1 U66400.1 U83582.1 U83585.1 V00529.1 
    X00369.1 X03068.1 X76553.1 X76554.1 X96420.1 

    Selected DOTS entries (see all 34):

    DT.87078313  DT.121314811  DT.92443956  DT.92404855  DT.40250885  DT.87078525  DT.121314743  DT.100745675 
    DT.100824965  DT.121314570  DT.70102156  DT.121314703  DT.121314508  DT.121314679  DT.121314712  DT.92443957 
    DT.121314517  DT.85104317  DT.121314784  DT.121632200  DT.75148240  DT.95224644  DT.121314594  DT.121314800 

    Selected AceView cDNA sequences (see all 111):

    M25327 T29121 BE501332 BM008135 M17207 M22550 BQ012862 R19164 
    BU626464 BU147009 AI597836 L34105 CB241087 BI909533 BV167438 BU688105 
    M59801 BE876810 L34106 BU678264 BG545675 BG686925 CD639679 BG686183 

    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™, 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)
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    HLA-DQB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCCTGAGTT
    HLA-DQB1 Expression
    About this image


    HLA-DQB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 5 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Bone marrow-derived hematopoietic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Epithelial Cells
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
    HLA-DQB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HLA-DQB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.409934
        Custom PCR Arrays for HLA-DQB1
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for HLA-DQB1 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H2-Ab11 , 5 histocompatibility 2, class II antigen A, beta 11, 5 79.52(n)1
    75.19(a)1
      17 (17.98 cM)5
    149611  NM_207105.31  NP_996988.21 
     342632095 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hla-drb11 major histocompatibility complex, class II, DR beta more 60.81(n)
    54.95(a)
      734125  NM_001045794.1  NP_001039259.1 


    ENSEMBL Gene Tree for HLA-DQB1 (if available)
    TreeFam Gene Tree for HLA-DQB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HLA-DQB1 gene
    HLA-DRB52  HLA-DQA12  HLA-DPA12  HLA-DRA2  HLA-DRB12  HLA-DOB2  HLA-DMA2  HLA-DQB22  
    HLA-DOA2  ENSG000002489932  HLA-DMB2  HLA-DQA22  HLA-DPB12  
    Selected SIMAP similar genes for HLA-DQB1 using alignment to 830 protein entries:     DQB1_HUMAN (see all proteins) (see all similar genes):
    HLQ-DQB1    HLA-B27    HLA-A*2410    HLA-A*33    HLA-ABC    MHC class I HLA-A
    HLA-A*03    HLA-A null    HLA-A*02    HLA-A*0226    HLA-A24AK    HLA-A26
    HLA-Cw3    HLA-DQB1*06x    HLA-DQ3    HLA-DQB    B-3501    Cw

    Find genes that share paralogs with HLA-DQB1           About GenesLikeMe



    (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
    DQB1_HUMAN, P01920: The following alleles of HLA-DQB1 are known: DQB1*02:01, DQB1*02:02, DQB1*02:03, DQB1*02:04,
    DQB1*02:05, DQB1*03:01, DQB1*03:02, DQB1*03:03, DQB1*03:04, DQB1*03:05, DQB1*03:06, DQB1*03:07, DQB1*03:08,
    DQB1*03:09, DQB1*03:10, DQB1*03:11, DQB1*03:12, DQB1*03:13, DQB1*03:14, DQB1*03:15, DQB1*03:16, DQB1*03:17,
    DQB1*03:18, DQB1*03:19, DQB1*03:20, DQB1*03:21, DQB1*03:22, DQB1*03:23, DQB1*03:24, DQB1*03:25, DQB1*03:26,
    DQB1*04:01, DQB1*04:02, DQB1*04:03, DQB1*05:01, DQB1*05:02, DQB1*05:03, DQB1*05:04, DQB1*05:05, DQB1*06:01,
    DQB1*06:02, DQB1*06:03, DQB1*06:04, DQB1*06:05, DQB1*06:06, DQB1*06:07, DQB1*06:08, DQB1*06:09, DQB1*06:10,
    DQB1*06:11, DQB1*06:12, DQB1*06:13, DQB1*06:14, DQB1*06:15, DQB1*06:16, DQB1*06:17, DQB1*06:18, DQB1*06:19,
    DQB1*06:20, DQB1*06:21, DQB1*06:22, DQB1*06:23, DQB1*06:24, DQB1*06:25, DQB1*06:27, DQB1*06:28, DQB1*06:29,
    DQB1*06:30, DQB1*06:31, DQB1*06:32, DQB1*06:33, DQB1*06:34, DQB1*06:35, DQB1*06:36, DQB1*06:37, DQB1*06:38, and
    DQB1*06:39. The sequence shown is that of DQB1*03:01
    DQB1_HUMAN, P01920: DQ2 (heterodimer of DQA1*05:01/DQB1*02:01) is associated with more than 90% of celiac disease
    patients. A minority displays DQ8 (heterodimer of DQA1*03/DQB1*03:02)
    DQB1_HUMAN, P01920: DQ0602 (heterodimer of DQA1*01:02/DQB1*06:02) confers dominant protection against type 1 diabetes
    (T1D) and strong susceptibility to narcolepsy. DQB1*06:02 has been found to be present in most of the narcolepsy
    patients. As well 98% of the patients with an HCRT deficiency are positive for DQB1*06:02


    Selected SNPs for HLA-DQB1 (see all 1887)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs11430891,2
    C,Fhistocompatibility11(-) TAATTA/C/GTCAAT 6 -- int14NA WA 242
    rs23008261,2
    C,Fhistocompatibility11(-) ATTAGA/C/G/
            
    GATTA
    6 -- int12WA EA 238
    rs23008271,2
    Chistocompatibility11(-) CATGAA/C/G/
            
    AAACA
    6 -- int14NA EA 244
    rs28542671,2
    C,Fhistocompatibility11(-) CTGTTA/C/G/
            
    AAGAT
    6 -- int13NA MN 22
    rs28567031,2
    C,Fhistocompatibility11(-) ACTTAT/CATTTT 6 -- int12Minor allele frequency- C:0.21NA 122
    rs92735161,2
    C,Fhistocompatibility11(+) GAACAA/G/TGGACC 6 -- int12NA MN 20
    rs92737361,2
    Chistocompatibility11(+) AAGGAA/C/GGGGAA 6 -- int1 trp31NA 2
    rs92741661,2
    Chistocompatibility11(+) AAAAAA/C/G/
            
    TAGAA
    6 -- int1 trp30--------
    rs92741671,2
    C,Fhistocompatibility11(+) AATGTA/C/G/
            
    ATTTC
    6 -- int11NA 120
    rs92741681,2
    C,Fhistocompatibility11(-) AAAGTC/G/TTGTAA 6 -- int11NA 120

    HapMap Linkage Disequilibrium report for HLA-DQB1 (32627244 - 32636160 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HLA-DQB1 (see all 56):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1112e199CNV Deletion23128226
    dgv1113e199CNV Deletion23128226
    esv2676540CNV Deletion23128226
    esv2731847CNV Deletion23290073
    esv2421710CNV Deletion20811451
    dgv1046e201CNV Deletion23290073
    esv2675542CNV Deletion23128226
    esv2676495CNV Deletion23128226
    dgv1111e199CNV Deletion23128226
    dgv6772n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): HLA-DQB1
    Locus Specific Mutation Databases (LSDB): HLA-DQB1

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing HLA-DQB1
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604305   
    OMIM disorders: 123400  126200  212750  
    Selected diseases for HLA-DQB1 (see all 38):    
    About MalaCards
    variant creutzfeldt-jakob disease    celiac disease    vulvovaginal gingival syndrome    bullous pemphigoid
    multiple sclerosis 1    type ii mixed cryoglobulinemia    small fiber neuropathy    refractory celiac disease
    genetic prion diseases    tubulointerstitial nephritis and uveitis    narcolepsy    kleine-levin syndrome
    microscopic colitis    common wart    severe hemophilia a    pityriasis rosea
    echinococcosis    sialadenitis    cardiac sarcoidosis    rheumatic heart disease

    2 diseases from the University of Copenhagen DISEASES database for HLA-DQB1:
    Diabetes mellitus     Hypersensitivity reaction type II disease

    Find genes that share disorders with HLA-DQB1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for HLA-DQB1 gene (see all 34)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetes mellitus insulin-dependent 72.4 23 9820603 (2), 8929711 (2), 15336779 (1), 1728861 (1) (see all 20)
    genetic susceptibility 69.3 12 15256073 (1), 17126830 (1), 18552411 (1), 10053014 (1) (see all 10)
    autoimmune diseases 51.9 2 1520483 (1), 7608264 (1)
    autoimmunity 48.5 1 11240447 (1)
    autoimmune response 43.5 2 7690776 (2)
    celiac disease 41.2 3 1919044 (2), 11929591 (1)
    iga deficiency 37.6 2 1438261 (1), 1520483 (1)
    lupus erythematosus systemic 37.4 4 7903231 (2), 2022497 (1), 18295738 (1)
    dermatitis herpetiformis 35.8 3 1919044 (3)
    multiple sclerosis 33.9 2 2001977 (1), 8442703 (1)

    GeneTests: HLA-DQB1
    GeneReviews: HLA-DQB1
    Genetic Association Database (GAD): HLA-DQB1
    Human Genome Epidemiology (HuGE) Navigator: HLA-DQB1 (1104 documents)

    Export disorders for HLA-DQB1 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)
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    PubMed articles for HLA-DQB1 gene, integrated from 10 sources (see all 1518):
    (articles sorted by number of sources associating them with HLA-DQB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic association of HLA DQB1 with CD4+CD25+(high) T-cell apoptosis in type 1 diabetes. (PubMed id 19295543)1, 4, 9 Glisic S....Ghosh S. (Genes Immun. 2009)
    2. The MHC type 1 diabetes susceptibility gene is centromeric to HLA-DQB1. (PubMed id 18065200)1, 4, 9 Husain Z....Alper C.A. (J. Autoimmun. 2008)
    3. Different contribution of HLA-DR and -DQ genes in susceptibility and resistance to insulin-dependent diabetes mellitus (IDDM). (PubMed id 8929711)1, 2, 9 Yasunaga S.... Sasazuki T. (Tissue Antigens 1996)
    4. HLA-DRB1 and HLA-DQB1 polymorphisms in Pacific Islands populations. (PubMed id 12144623)1, 4, 9 Velickovic Z.M....Carter J.M. (Tissue Antigens 2002)
    5. [HLA-DQB1 allele polymorphism and clinical characteristics of 15 familial myasthenia gravis cases in north China]. (PubMed id 16883535)1, 4, 9 Yang H.W....Xie Y.C. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2006)
    6. Analysis of HLA-DQB1 gene polymorphisms in asymptomatic HBV carriers and chronic hepatitis B patients in the Chinese Han population. (PubMed id 16893387)1, 4, 9 Xi-Lin Z....Hui L. (Int. J. Immunogenet. 2006)
    7. Association of HLA-DRB1, DQB1 alleles with chronic urticaria. (PubMed id 16201295)1, 4, 9 Chen J....Xiong P. (J. Huazhong Univ. Sci. Technol. Med. Sci. 2005)
    8. HLA-DR and DQ polymorphisms in bullous pemphigoid from northern China. (PubMed id 12139680)1, 4, 9 Gao X.H....Wojnarowska F. (Clin. Exp. Dermatol. 2002)
    9. [Analysis of HLA-DQB1 polymorphism by PCR-SSO in Yichu of Yunnan Province]. (PubMed id 11233253)1, 4, 9 Chen W.M....Xu A.L. (Yi Chuan Xue Bao 2001)
    10. Are HLA DQB1 alleles correlated with breast cancer histopronostic parameters in Tunisia? (PubMed id 19927780)1, 4, 9 Baccar A....Ben Ammar Elgaaied A. (Tunis Med 2009)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 3119 HGNC: 4944 AceView: HLA-DQB1 Ensembl:ENSG00000179344 euGenes: HUgn3119
    ECgene: HLA-DQB1 Kegg: 3119 H-InvDB: HLA-DQB1

    (According to HUGE)
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      --

    (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-DQB1 Pharmacogenomics, SNPs, Pathways
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=HLA-DQB1
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HLA-DQB1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for HLA-DQB1 gene:
    Search GeneIP for patents involving HLA-DQB1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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