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

HLA-E Gene

protein-coding   GIFtS: 63
GCID: GC06P030457

Major Histocompatibility Complex, Class I, E

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Major Histocompatibility Complex, Class I, E1 2     HLA Class I Histocompatibility Antigen, Alpha Chain E2
HLA-6.22 3     HLA Class I Histocompatibility Antigen, E Alpha Chain2
MHC Class I Antigen E2 3     Lymphocyte Antigen2
EA1.22     MHC HLA-E Alpha-12
EA2.12     MHC HLA-E Alpha-2.12
MHC2     HLAE3
QA12     

External Ids:    HGNC: 49621   Entrez Gene: 31332   Ensembl: ENSG000002045927   OMIM: 1430105   UniProtKB: P137473   

Export aliases for HLA-E gene to outside databases

Previous GC identifers: GC06P030513 GC06P030228 GC06P030563 GC06P030565 GC06P030257


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HLA-E Gene:
HLA-E belongs to the HLA class I heavy chain paralogues. This class I molecule is a heterodimer consisting of a
heavy chain and a light chain (beta-2 microglobulin). The heavy chain is anchored in the membrane. HLA-E binds a
restricted subset of peptides derived from the leader peptides of other class I molecules. The heavy chain is
approximately 45 kDa and its gene contains 8 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the
alpha1 and alpha2 domains, which both bind the peptide, exon 4 encodes the alpha3 domain, exon 5 encodes the
transmembrane region, and exons 6 and 7 encode the cytoplasmic tail. (provided by RefSeq, Jul 2008)

GeneCards Summary for HLA-E Gene: 
HLA-E (major histocompatibility complex, class I, E) is a protein-coding gene. Diseases associated with HLA-E include coronary artery aneurysm, and intrahepatic cholestasis of pregnancy, and among its related super-pathways are Allograft rejection and ER-Phagosome pathway. GO annotations related to this gene include MHC class I receptor activity. An important paralog of this gene is HLA-F.

UniProtKB/Swiss-Prot: HLAE_HUMAN, P13747
Function: Preferably binds to a peptide derived from the signal sequence of most HLA-A, -B, -C and -G molecules

Gene Wiki entry for HLA-E Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.2  NT_007592.15  NT_113891.2  NT_167245.1  NT_167246.1  NT_167247.1  NT_167248.1  
NT_167249.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HLA-E gene promoter:
         MEF-2A   AP-1   MyoD   STAT3   aMEF-2   Nkx2-5   NF-kappaB1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): HLA-E promoter sequence
   Search SABiosciences Chromatin IP Primers for HLA-E

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


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.33   HGNC cytogenetic band: 6p21.3

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

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P030457:  view genomic region     (about GC identifiers)

Start:
30,457,183 bp from pter      End:
30,461,982 bp from pter
Size:
4,800 bases      Orientation:
plus strand

6 alternative locations:
Chr6+,NT_167245 1,750,823-1,755,622      Chr6+,NT_167247 1,839,047-1,843,846      Chr6+,NT_167249 1,789,473-1,794,272     
Chr6+,NT_167246 1,805,261-1,810,060      Chr6+,NT_113891.2 1,969,247-1,974,046      Chr6+,NT_167248 1,750,098-1,754,897     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: HLAE_HUMAN, P13747 (See protein sequence)
Recommended Name: HLA class I histocompatibility antigen, alpha chain E precursor  
Size: 358 amino acids; 40157 Da
Subunit: Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin)
Subcellular location: Membrane; Single-pass type I membrane protein
Caution: The existence of allele E*0102 (PubMed:3260916) and allele E*0104 (PubMed:1977695) is uncertain. The
alleles could not be confirmed in further studies (PubMed:12445303)
6/9 PDB 3D structures from and Proteopedia for HLA-E (see all 9):
1KPR (3D)        1KTL (3D)        1MHE (3D)        2ESV (3D)        3AM8 (3D)        3BZE (3D)    
Secondary accessions: Q30169 Q9BT83 Q9GIY7 Q9GIY8

Explore the universe of human proteins at neXtProt for HLA-E: NX_P13747

Explore proteomics data for HLA-E at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13747

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

    HLA-E Protein Expression
    REFSEQ proteins: NP_005507.3  
    ENSEMBL proteins: 
     ENSP00000365817  
    Reactome Protein details: P13747
    Human Recombinant Protein Products for HLA-E: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for HLA-E
    OriGene Protein Over-expression Lysate for HLA-E
    OriGene MassSpec for HLA-E 
    OriGene Custom Protein Services for HLA-E
    GenScript Custom Purified and Recombinant Proteins Services for HLA-E
    Novus Biologicals HLA-E Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005886plasma membrane TAS--
    GO:0012507ER to Golgi transport vesicle membrane TAS--
    GO:0030670phagocytic vesicle membrane TAS--
    GO:0031901early endosome membrane TAS--

    HLA-E for ontologies           About GeneDecksing



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    Abcam antibodies for HLA-E
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HLA: Histocompatibility complex
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    5/7 InterPro protein domains (see all 7):
     IPR011162 MHC_I/II-like_Ag-recog
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS

    Graphical View of Domain Structure for InterPro Entry P13747

    ProtoNet protein and cluster: P13747

    2 Blocks protein domains:
    IPB001039 MHC class I signature
    IPB003597 Immunoglobulin C-type


    UniProtKB/Swiss-Prot: HLAE_HUMAN, P13747
    Similarity: Belongs to the MHC class I family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    HLA-E for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HLAE_HUMAN, P13747
    Function: Preferably binds to a peptide derived from the signal sequence of most HLA-A, -B, -C and -G molecules

         Genatlas biochemistry entry for HLA-E:
    HLA class Ib,44kDa,6.2kb HindIII fragment,TAP and tapasin dependent,localized at the cell surface,harboring
    structural features conferring tight peptide binding specificity,correlating with the binding of an MHC class I
    leader peptide (see MHC1)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IBA--
    GO:0005515protein binding ----
    GO:0042605peptide antigen binding IBA--
         
    HLA-E for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for H2-T23):
     homeostasis/metabolism  immune system 

    HLA-E for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out H2-T23H2-tm1Cant for HLA-E

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

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

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HLA-E
    1 QIAGEN miScript miRNA Assays for microRNA that regulate HLA-E:
    hsa-miR-4302
    SwitchGear 3'UTR luciferase reporter plasmidHLA-E 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for HLA-E
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for HLA-E (see all 7)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HLA-E (NM_005516)
    Sino Biological Human cDNA Clone for HLA-E
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HLA-E
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-E
    Sirion Biotech Customized lentivirus for stable overexpression of HLA-E 
                         Customized lentivirus expression plasmids for stable overexpression of HLA-E 

    Cell Line
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    Search LifeMap BioReagents cell lines for HLA-E
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HLA-E


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for HLA-E About   (see all 21)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Allograft rejection
    Allograft rejection0.69
    Antigen processing and presentation0.37
    Type I diabetes mellitus0.69
    CTL Mediated Apoptosis0.36
    Graft-versus-host disease0.65
    Viral myocarditis0.35
    Autoimmune thyroid disease0.62
    2CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway0.81
    Proteasome Degradation0.57
    Antigen processing-Cross presentation0.81
    3Immune response Fc epsilon RI pathway
    Immune response Role of DAP12 receptors in NK cells0.32
    Natural killer cell mediated cytotoxicity0.31
    Immune response CD16 signaling in NK cells0.32
    4Interferon Signaling
    Interferon Signaling0.61
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.61
    5Immune System
    Immune System0.56
    Innate Immune System0.50
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for HLA-E
        Immune response Role of integrins in NK cells cytotoxicity
    Immune response CD16 signaling in NK cells
    Immune response Role of DAP12 receptors in NK cells

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for HLA-E
        CDC42 Pathway
    CTL Mediated Apoptosis

    3 GeneGo (Thomson Reuters) Pathways for HLA-E
        Immune response CD16 signaling in NK cells
    Immune response Role of DAP12 receptors in NK cells
    Immune response Role of integrins in NK cells cytotoxicity

    1 BioSystems Pathway for HLA-E
        Proteasome Degradation

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

    5/15        Reactome Pathways for HLA-E (see all 15)
        Endosomal/Vacuolar pathway
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Interferon alpha/beta signaling
    Interferon gamma signaling
    Cytokine Signaling in Immune system


    5/14         Kegg Pathways  (Kegg details for HLA-E) (see all 14):
        Endocytosis
    Phagosome
    Cell adhesion molecules (CAMs)
    Antigen processing and presentation
    Natural killer cell mediated cytotoxicity


    HLA-E for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HLA-E

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/7 Interacting proteins for HLA-E (P137473 ENSP000003658174) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    B2MP617693, ENSP000003408584I2D: score=4 STRING: ENSP00000340858
    KLRD1Q132413, ENSP000003381304I2D: score=2 STRING: ENSP00000338130
    KLRC1P267153, ENSP000003520644I2D: score=1 STRING: ENSP00000352064
    KLRC2P267173, ENSP000003713274I2D: score=1 STRING: ENSP00000371327
    CD8AP017323, ENSP000002836354I2D: score=2 STRING: ENSP00000283635
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001916positive regulation of T cell mediated cytotoxicity IEA--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--
    GO:0002480antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS--
    GO:0006955immune response ----

    HLA-E for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HLA-E (HLAE)

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HLA-E gene: 
    NM_005516.5  

    Unigene Cluster for HLA-E:

    Major histocompatibility complex, class I, E
    Hs.650174  [show with all ESTs]
    Unigene Representative Sequence: NM_005516
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376630(uc011dmg.2 uc003nqg.3 uc011dmh.2) ENST00000484194
    ENST00000493699
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HLA-E
    1 QIAGEN miScript miRNA Assays for microRNA that regulate HLA-E:
    hsa-miR-4302
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    Inhib. RNA
    Products:
         
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    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HLA-E
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HLA-E
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-E

    Additional mRNA sequence: 

    AB209870.1 AJ293263.1 AJ293264.1 AK098434.1 AK225048.1 AK292391.1 AK296822.1 AK298695.1 
    AK301125.1 AK314411.1 AY216681.1 AY221103.1 BC002578.2 BC004297.1 BC040479.1 BX538084.1 
    L78455.1 L78934.1 M20022.1 M31183.1 X56841.1 X64879.1 

    24/80 DOTS entries (see all 80):

    DT.91764483  DT.95245447  DT.100061168  DT.91740240  DT.91764506  DT.95245445  DT.121346331  DT.95245417 
    DT.95245415  DT.87005617  DT.95245421  DT.121346247  DT.121345787  DT.121346421  DT.121346111  DT.101988044 
    DT.91671107  DT.91831076  DT.100049205  DT.121346187  DT.121345720  DT.91954591  DT.92024656  DT.97811367 

    24/1003 AceView cDNA sequences (see all 1003):

    CA412519 BM803187 CA439575 AI086969 AA196126 BM818977 AU185923 AA335739 
    BQ065755 BQ063518 BU163556 BG403212 BX538084 AA487158 AI146723 AU279942 
    AW236295 CA428125 BG754928 BM688592 AI679768 F05537 CK430301 BQ016582 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    HLA-E expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Thymus (Hematopoietic System)    fully expand to see all 3 entries
             T Helper Cells Thymus
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             T Helper Cells Thymus
     
     Spleen (Hematopoietic System)

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

    SOURCE GeneReport for Unigene cluster: Hs.650174
        SABiosciences Expression via Pathway-Focused PCR Arrays including HLA-E: 
              Innate & Adaptive Immune Responses in human mouse rat
              Type I Interferon Response in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HLA-E
    In Situ
    Assay Products:
     

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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for HLA-E gene from 2/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia H2-T231 , 5 histocompatibility 2, T region locus 231, 5 77.1(n)1
    67.83(a)1
      17 (18.86 cM)5
    150401  NM_010398.31  NP_034528.11 
     360297735 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:641151 zgc:64115 46.48(n)
    35.09(a)
      791453  NM_001110118.1  NP_001103588.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HLA-E gene
    HLA-F2  MR12  FCGRT2  HFE2  HLA-B2  HLA-C2  HLA-A2  HLA-G2  
    18/111 SIMAP similar genes for HLA-E using alignment to 10 protein entries:     HLAE_HUMAN (see all proteins) (see all similar genes):
    EA1.2    EA2.1    DKFZp686P19218    HLA-A*0201V3    HLA-Cw2    HLA-ABC
    Cw*03    HLA-Cw3    HLA G locus    HLA-B41    FLJ45422    HLA-B*15IL
    B-1510    HLA C*    HLA-Cw*    MHC-G    HLA-B27    Cw

    HLA-E for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: HLAE_HUMAN, P13747
    Polymorphism: The following alleles of E-1 are known: E*01:01, E*0102, E*01:03 and E*01:04. The sequence shown is
    that of E*01:01


    10/223 SNPs in HLA-E are shown (see all 223)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0043954
    ----see VAR_0043952 G R mis40--------
    rs1394228601,2
    C--30455186(+) TCATCA/GCAACC 1 -- us2k10--------
    rs178753591,2
    C,F--30455203(+) TCCCGG/AGTTCA 1 -- us2k13Minor allele frequency- A:0.10MN NA 70
    rs287801081,2
    C,F--30455240(+) AGTAGG/CTGGGA 1 -- us2k13Minor allele frequency- C:0.06NA 124
    rs122079741,2
    C,A--30455294(+) gtagaG/Catggg 1 -- us2k12Minor allele frequency- C:0.25WA NA 4
    rs178753601,2
    C--30455321(+) AAGGCT/CGGTCT 1 -- us2k15Minor allele frequency- C:0.11MN WA NA EA 426
    rs1395552151,2
    C--30455364(+) ACCGCG/TCCTGG 1 -- us2k10--------
    rs1812115601,2
    --30455384(+) GTATCG/TAAAAT 1 -- us2k10--------
    rs1475907791,2
    C--30455429(+) AATGTA/GTGCTA 1 -- us2k10--------
    rs178753611,2
    C--30455468(+) TGCAAC/GAACAA 1 -- us2k1 tfbs31Minor allele frequency- G:0.01MN 66

    HapMap Linkage Disequilibrium report for HLA-E (30457183 - 30461982 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for HLA-E:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731791CNV Deletion23290073
    nsv5242CNV Insertion18451855
    nsv884070CNV Loss21882294
    dgv6523n71CNV Loss21882294
    nsv884077CNV Loss21882294
    nsv884076CNV Gain21882294


    Human Gene Mutation Database (HGMD): HLA-E

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 143010    OMIM disorders: --

    20/58 diseases for HLA-E (see all 58):    About MalaCards
    coronary artery aneurysm    intrahepatic cholestasis of pregnancy    toxic epidermal necrolysis    stevens-johnson syndrome
    intrahepatic cholestasis    hematopoietic stem cell transplantation    cholestasis    sickle cell anemia
    acute graft versus host disease    choriocarcinoma    graft versus host disease    hiv type 1
    cytomegalovirus infection    myasthenia gravis    kawasaki disease    rabies
    type 1 diabetes    behcet's disease    autoimmune thyroiditis    type 1 diabetes mellitus


    HLA-E for disorders           About GeneDecksing

    10/12 Novoseek inferred disease relationships for HLA-E gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    miscarriage recurrent 49 5 16514201 (3), 11270642 (2)
    choriocarcinoma 47.6 4 15578261 (1), 19239424 (1), 11884433 (1)
    infection chronic 45.4 1 15751767 (1)
    miscarriage 44.4 4 9894856 (3)
    autoimmune diseases 4.36 2 19140831 (1), 10689118 (1)
    myeloma 2.33 4 1402654 (1), 9574542 (1)
    leukemia 0 2 11870233 (1)
    necrosis 0 4 11870233 (1), 17179229 (1)
    tumors 0 32 12618909 (9), 15620456 (4), 20167379 (3), 16920947 (2) (see all 12)
    preeclampsia 0 1 16806485 (1)

    Genetic Association Database (GAD): HLA-E
    Human Genome Epidemiology (HuGE) Navigator: HLA-E (2817 documents)

    Export disorders for HLA-E gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HLA-E gene, integrated from 9 sources (see all 311):
    (articles sorted by number of sources associating them with HLA-E)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and nucleotide sequence of a cDNA clone encoding a novel HLA class I gene. (PubMed id 3131426)1, 2, 3 Mizuno S.... Yang S.Y. (1988)
    2. [Analysis on HLA-E polymorphism in Guangdong Han population] (PubMed id 15631661)1, 4, 9 Zhen Z.J....Huang S.L. (2004)
    3. HLA-E gene polymorphism associated with susceptibility to Kawasaki disease and formation of coronary artery aneurysms. (PubMed id 19180512)1, 4, 9 Lin Y.J....Tsai F.J. (2009)
    4. Ethnic variability in human leukocyte antigen-E haplotypes. (PubMed id 19140831)1, 4, 9 Antoun A....Briggs D. (2009)
    5. HLA-G and HLA-E polymorphisms in an indigenous African population. The ZVITAMBO Study Group. (PubMed id 11137220)1, 4, 9 Matte C....Roger M. (2000)
    6. Homozygous status for HLA-E*0103 confers protection from acute graft-versus-host disease and transplant-related mortality in HLA-matched sibling hematopoietic stem cell transplantation. (PubMed id 17164714)1, 4, 9 Tamouza R....Charron D. (2006)
    7. HLA-E and immunobiology of pregnancy. (PubMed id 16573557)1, 4, 9 Tripathi P....Agrawal S. (2006)
    8. Genetic variants in nonclassical major histocompatibility complex class I human leukocyte antigen (HLA)-E and HLA-G molecules are associated with susceptibility to heterosexual acquisition of HIV-1. (PubMed id 16362895)1, 4, 9 Lajoie J....Roger M. (2006)
    9. Polymorphism of human leukocyte antigen-E gene in the Japanese population with or without recurrent abortion. (PubMed id 11270642)1, 4, 9 Kanai T....Taketani Y. (2001)
    10. HLA-E*0101 and HLA-G*010101 reduce the risk of Behcet's disease. (PubMed id 17257316)1, 4, 9 Park K.S....Lee E.S. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3133 HGNC: 4962 AceView: HLA-EandRANP1andFLJ45422 Ensembl:ENSG00000204592 euGenes: HUgn3133
    ECgene: HLA-E Kegg: 3133 H-InvDB: HLA-E

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HLA-E Pharmacogenomics, SNPs, Pathways

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

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



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    About This Section

     
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