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HLA-DRB5 Gene

protein-coding   GIFtS: 59
GCID: GC06M032485

Major Histocompatibility Complex, Class II, DR Beta 5

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)
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Aliases
Major Histocompatibility Complex, Class II, DR Beta 51 2     HLA Class II Histocompatibility Antigen, DR-5 Beta Chain2
DR2-beta-22 3     HLA Class II Histocompatibility Antigen, DRB1-9 Beta Chain2
DR Beta-52 3     Human Leucocyte Antigen DRB52
MHC Class II Antigen DRB52 3     Leukocyte Antigen Class II2
DR-92     MHC Class II Antigen DRB1*92
DR92     MHC Class II HLA Beta Chain2
HLA-DRB2     MHC HLA-DR-Beta Cell Surface Glycoprotein2
dw22     MHC HLA-DR-Beta Chain2
HLA Class II Histocompatibility Antigen, DR Beta 5 Chain2     Dw23

External Ids:    HGNC: 49531   Entrez Gene: 31272   Ensembl: ENSG000001985027   OMIM: 6047765   UniProtKB: Q301543   

Export aliases for HLA-DRB5 gene to outside databases

Previous GC identifers: GC06M032490 GC06Md32512 GC06M032255 GC06Md32556 GC06M032593


(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-DRB5 Gene:
HLA-DRB5 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of
an alpha (DRA) and a beta (DRB) chain, 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 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. Within the DR molecule
the beta chain contains all the polymorphisms specifying the peptide binding specificities. Typing for these
polymorphisms is routinely done for bone marrow and kidney transplantation. DRB1 is expressed at a level five
times higher than its paralogues DRB3, DRB4 and DRB5. The presence of DRB5 is linked with allelic variants of
DRB1, otherwise it is omitted. There are 4 related pseudogenes: DRB2, DRB6, DRB7, DRB8 and DRB9. (provided by
RefSeq, Jul 2008)

GeneCards Summary for HLA-DRB5 Gene:
HLA-DRB5 (major histocompatibility complex, class II, DR beta 5) is a protein-coding gene. Diseases associated with HLA-DRB5 include pityriasis rosea, and alveolar echinococcosis. GO annotations related to this gene include peptide antigen binding. An important paralog of this gene is HLA-DQA1.

UniProtKB/Swiss-Prot: DRB5_HUMAN, Q30154
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-DRB5 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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Regulatory elements:
   Regulatory transcription factor binding sites in the HLA-DRB5 gene promoter:
         c-Fos   STAT1   AP-1   STAT1beta   NF-kappaB   STAT1alpha   NF-kappaB2   STAT3   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHLA-DRB5 promoter sequence
   Search Chromatin IP Primers for HLA-DRB5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat HLA-DRB5


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-DRB5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HLA-DRB5 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M032485:  view genomic region     (about GC identifiers)

Start:
32,485,120 bp from pter      End:
32,498,064 bp from pter
Size:
12,945 bases      Orientation:
minus strand

(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: DRB5_HUMAN, Q30154 (See protein sequence)
Recommended Name: HLA class II histocompatibility antigen, DR beta 5 chain precursor  
Size: 266 amino acids; 30056 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
Caution: HLA-DRB3, HLA-DRB4 and HLA-DRB5 may represent a unique gene
4 PDB 3D structures from and Proteopedia for HLA-DRB5:
1FV1 (3D)        1H15 (3D)        1HQR (3D)        1ZGL (3D)    
Secondary accessions: B2RBV6 C7C4X3 O00157 O00283 O46700 Q29703 Q29787 Q29788 Q30126 Q30150
Q30199 Q6SJR2 Q7M2H9 Q8HWS7 Q8WLR5 Q9MY54 Q9XRX6

Explore the universe of human proteins at neXtProt for HLA-DRB5: NX_Q30154

Explore proteomics data for HLA-DRB5 at MOPED

Post-translational modifications: 

  • Ubiquitinated by MARCH1 and MARCH8 at Lys-254 leading to down-regulation of MHC class II (Probable)1
  • Ubiquitination2 at Lys254
  • Glycosylation2 at Asn48
  • Modification sites at PhosphoSitePlus

  • See HLA-DRB5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002116.2  
    ENSEMBL proteins: 
     ENSP00000364114  
    Reactome Protein details: Q30154

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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 Q30154

    ProtoNet protein and cluster: Q30154

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


    UniProtKB/Swiss-Prot: DRB5_HUMAN, Q30154
    Similarity: Belongs to the MHC class II family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    HLA-DRB5 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,
    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: DRB5_HUMAN, Q30154
    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-DRB5:
    HLA-DR,beta 5 chain,found in DR2 haplotypes

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042605peptide antigen binding ISS--
         
    HLA-DRB5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for HLA-DRB5:
     Synthetic lethal with imatinib 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HLA-DRB5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HLA-DRB5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HLA-DRB5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HLA-DRB5

    miRNA
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    miRTarBase miRNAs that target HLA-DRB5:
    hsa-mir-335-5p (MIRT018565)

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    SwitchGear 3'UTR luciferase reporter plasmidHLA-DRB5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HLA-DRB5

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    GenScript: all cDNA clones in your preferred vector: HLA-DRB5 (NM_002125)
    Sino Biological Human cDNA Clone for HLA-DRB5
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-DRB5


    (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
    DRB5_HUMAN, Q30154: 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. Late endosome 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
    extracellular3
    cytosol1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005765lysosomal membrane TAS--
    GO:0005886plasma membrane TAS--
    GO:0009897external side of plasma membrane ISS--
    GO:0012507ER to Golgi transport vesicle membrane TAS--

    HLA-DRB5 for ontologies           About GeneDecksing


    (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).
    About This Section

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    SuperPaths for HLA-DRB5 About   (see all 26)                                                                                              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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for HLA-DRB5 (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-DRB5 (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-DRB5
        Allograft Rejection

    1 Sino Biological Pathway for HLA-DRB5
        NF-kB (NFkB) Pathway

    Selected Reactome Pathways for HLA-DRB5 (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-DRB5) (see all 22):
        Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Hematopoietic cell lineage
    Intestinal immune network for IgA production


    HLA-DRB5 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for HLA-DRB5
    Interactions:

        GeneGlobe Interaction Network for HLA-DRB5

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

    Selected Interacting proteins for HLA-DRB5 (Q301543 ENSP000003641144) via UniProtKB, MINT, STRING, and/or I2D (see all 163)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227993P019033, ENSP000003726084I2D: score=2 STRING: ENSP00000372608
    ENSG00000228987P019033, ENSP000004104434I2D: score=2 STRING: ENSP00000410443
    HLA-DRAP019033, ENSP000003787864I2D: score=2 STRING: ENSP00000378786
    ENSG00000206308P019033, ENSP000003727464I2D: score=2 STRING: ENSP00000372746
    ENSG00000226260P019033, ENSP000004045334I2D: score=2 STRING: ENSP00000404533
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002381immunoglobulin production involved in immunoglobulin mediated immune response ISS--
    GO:0002437inflammatory response to antigenic stimulus ISS--
    GO:0002455humoral immune response mediated by circulating immunoglobulin ISS--
    GO:0006955immune response ISS--
    GO:0016045detection of bacterium ISS--

    HLA-DRB5 for ontologies           About GeneDecksing



    (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)
    About This Section

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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-DRB5 (DRB5)



    (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 )
    About This Section

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    REFSEQ mRNAs for HLA-DRB5 gene: 
    NM_002125.3  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000374975(uc003obj.3 uc003obk.4)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QuantiTect SYBR Green Assays in human, mouse, rat HLA-DRB5
      QuantiFast Probe-based Assays in human, mouse, rat HLA-DRB5

    Selected AceView cDNA sequences (see all 81):

    CD366315 CA447597 M16954 BF872223 CA447257 BQ581218 CD369074 BU674567 
    NM_002125 BQ720779 CB306642 BQ710827 AI696994 BF853005 M20429 BQ549372 
    BC009234 R86752 CD366202 BQ008723 CA306645 CD369995 BG745584 BM977829 

    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)
    About This Section

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    HLA-DRB5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HLA-DRB5 Expression
    About this image

    HLA-DRB5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HLA-DRB5 Protein Expression
        Custom PCR Arrays for HLA-DRB5
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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 human and mouse.

    Orthologs for HLA-DRB5 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-Eb11 histocompatibility 2, class II antigen E beta 80.33(n)
    73.56(a)
      14969  NM_010382.2  NP_034512.2 


    ENSEMBL Gene Tree for HLA-DRB5 (if available)
    TreeFam Gene Tree for HLA-DRB5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HLA-DRB5 gene
    HLA-DQA12  HLA-DPA12  HLA-DQB12  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-DRB5 using alignment to 21 protein entries:     DRB5_HUMAN (see all proteins) (see all similar genes):
    HLA DRB4    HLA-DRB14    HLA-DRB1*1327    HLA-DRB1*1605    HLA-DR beta    HLA-DRB13
    DRB52    HLA-DR-beta 1    MHC class II HLA-DRB1*1315    MHC Class II HLA DRB1    DRB1*0405V3    HLA-DRBI
    HLA-DRB1*0402    HLA-DRB1*0407    HLA-DRB1*1301    HLA-DRB1*1302    HLA-DRB1*1402    HLA-D8.2V

    HLA-DRB5 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), 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
    DRB5_HUMAN, Q30154: The following alleles of DRB5 are known: DRB5*01:01, DRB5*01:02, DRB5*01:03, DRB5*01:04, DRB5*01:05,
    DRB5*01:06, DRB5*01:07, DRB5*01:09, DRB5*01:11, DRB5*01:12 DRB5*01:13, DRB5*01:14, DRB5*02:02, DRB5*02:03,
    DRB5*02:04, DRB5*02:05. The sequence shown is that of DRB5*01:01


    Selected SNPs for HLA-DRB5 (see all 2372)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs761531691,2
    C--32484651(+) AATAGA/GCTTCT 1 -- ds50013Minor allele frequency- G:0.33NA CSA 123
    rs1431877701,2
    --32484660(+) CTGCAC/TTGATT 1 -- ds50010--------
    rs773594141,2
    F--32484672(+) TGTACT/CGTTTA 1 -- ds50012Minor allele frequency- C:0.48NA 122
    rs783910201,2
    --32484673(+) GTACCG/TTTTAG 1 -- ds50012Minor allele frequency- T:0.46NA 122
    rs1116929091,2
    C--32484679(+) TTTAGA/TTTTGA 1 -- ds50010--------
    rs1138816821,2
    C,F--32484693(+) ATTTGG/ATACTG 1 -- ds50011Minor allele frequency- A:0.00WA 2
    rs1454615491,2
    --32484694(+) TTTGAG/TACTGA 1 -- ds50010--------
    rs1147093791,2
    C--32484695(+) TTGATA/GCTGAC 1 -- ds50010--------
    rs624055761,2
    C--32484706(+) TCTCAG/AAACAC 1 -- ds50014Minor allele frequency- A:0.24NA CSA EA 243
    rs1131263501,2
    C--32484709(+) CAAAAC/TACAAT 1 -- ds50013Minor allele frequency- T:0.10CSA NA EA 242

    HapMap Linkage Disequilibrium report for HLA-DRB5 (32485120 - 32498064 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HLA-DRB5 (see all 116):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2731847CNV Deletion23290073
    dgv1100e199CNV Deletion23128226
    nsv471491CNV Deletion19718026
    dgv1044e201CNV Deletion23290073
    dgv1101e199CNV Deletion23128226
    dgv1105e199CNV Deletion23128226
    esv2671539CNV Deletion23128226
    esv2422111CNV Deletion20811451
    dgv1045e201CNV Deletion23290073
    esv2421657CNV Deletion20811451

    Human Gene Mutation Database (HGMD): HLA-DRB5
    Locus Specific Mutation Databases (LSDB): HLA-DRB5

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HLA-DRB5
    DNA2.0 Custom Variant and Variant Library Synthesis for HLA-DRB5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604776    OMIM disorders: --

    Selected diseases for HLA-DRB5 (see all 55):    About MalaCards
    pityriasis rosea    alveolar echinococcosis    hemorrhagic fever with renal syndrome    echinococcosis
    diffuse panbronchiolitis    schistosomiasis    cerebral malaria    rubella
    hypersensitivity reaction type ii disease    keloids    toxoplasmosis    gestational diabetes
    pregnancy loss    hemorrhagic fever    interstitial lung disease    myocarditis
    autoimmune thyroiditis    abdominal aortic aneurysm    aortic aneurysm    malaria

    2 diseases from the University of Copenhagen DISEASES database for HLA-DRB5:
    Multiple sclerosis     Rheumatoid arthritis

    HLA-DRB5 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HLA-DRB5
    Human Genome Epidemiology (HuGE) Navigator: HLA-DRB5 (49 documents)

    Export disorders for HLA-DRB5 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-DRB5 gene, integrated from 10 sources (see all 204):
    (articles sorted by number of sources associating them with HLA-DRB5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Visual hallucinations and HLA class II antigens in cortical dementia. (PubMed id 20606439)1, 4 GA^mez-Tortosa E....CA!rdaba B. (Dement Geriatr Cogn Disord 2010)
    2. The impact of anti-HY responses on outcome in current and subsequent pregnancies of patients with recurrent pregnancy losses. (PubMed id 20307907)1, 4 Christiansen O.B....Nielsen H.S. (J. Reprod. Immunol. 2010)
    3. Immunogenetic susceptibility to diabetes mellitus in patients with liver disease. (PubMed id 19663932)1, 4 Montano-Loza A.J....Mason A.L. (Liver Int. 2009)
    4. Association of HY-restricting HLA class II alleles with pregnancy outcome in patients with recurrent miscarriage subsequent to a firstborn boy. (PubMed id 19223392)1, 4 Nielsen H.S....Christiansen O.B. (Hum. Mol. Genet. 2009)
    5. Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci. (PubMed id 19116923)1, 4 Vignal C....Wilson A.G. (Arthritis Rheum. 2009)
    6. Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. (PubMed id 19122664)1, 4 Silverberg M.S....Duerr R.H. (Nat. Genet. 2009)
    7. Epistasis among HLA-DRB1, HLA-DQA1, and HLA-DQB1 loci determines multiple sclerosis susceptibility. (PubMed id 19380721)1, 4 Lincoln M.R....Ebers G.C. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    8. HLA risk markers for chronic myelogenous leukemia in Eastern Canada. (PubMed id 19235017)1, 4 Naugler C. and Liwski R. (amp 2009)
    9. Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosis. (PubMed id 18832704)1, 4 Caillier S.J....Oksenberg J.R. (J. Immunol. 2008)
    10. MHC class II stabilization at the surface of human dendritic cells is the result of maturation-dependent MARCH I down-regulation. (PubMed id 18305173)1, 2 De Gassart A.... Gatti E. (Proc. Natl. Acad. Sci. U.S.A. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 3127 HGNC: 4953 AceView: HLA-DRB5 Ensembl:ENSG00000198502 euGenes: HUgn3127
    ECgene: HLA-DRB5 Kegg: 3127 H-InvDB: HLA-DRB5

    (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-DRB5 Pharmacogenomics, SNPs, Pathways

    (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-DRB5 gene:
    Search GeneIP for patents involving HLA-DRB5

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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