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HLA-E (major histocompatibility complex, class I, E)

Identity

HGNC (Hugo) HLA-E
LocusID (NCBI) 3133
Atlas_Id 46465
Location 6p21.33  [Link to chromosome band 6p21]
Location_base_pair Starts at 30457183 and ends at 30461982 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FBL (19q13.2) / HLA-E (6p21.33)HLA-E (6p21.33) / APOLD1 (12p13.1)HLA-E (6p21.33) / DSCR3 (21q22.13)
HLA-E (6p21.33) / ETF1 (5q31.2)HLA-E (6p21.33) / GTPBP1 (22q13.1)HLA-E (6p21.33) / HLA-B (6p21.33)
HLA-E (6p21.33) / MALL (2q13)HLA-E (6p21.33) / NR2C2 (3p25.1)HLA-E (6p21.33) / PPFIBP1 (12p11.23)
TSPAN14 (10q23.1) / HLA-E (6p21.33)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)HLA-E   4962
Cards
Entrez_Gene (NCBI)HLA-E  3133  major histocompatibility complex, class I, E
AliasesEA1.2; EA2.1; HLA-6.2; MHC; 
QA1
GeneCards (Weizmann)HLA-E
Ensembl hg19 (Hinxton)ENSG00000204592 [Gene_View]  chr6:30457183-30461982 [Contig_View]  HLA-E [Vega]
Ensembl hg38 (Hinxton)ENSG00000204592 [Gene_View]  chr6:30457183-30461982 [Contig_View]  HLA-E [Vega]
ICGC DataPortalENSG00000204592
TCGA cBioPortalHLA-E
AceView (NCBI)HLA-E
Genatlas (Paris)HLA-E
WikiGenes3133
SOURCE (Princeton)HLA-E
Genetics Home Reference (NIH)HLA-E
Genomic and cartography
GoldenPath hg19 (UCSC)HLA-E  -     chr6:30457183-30461982 +  6p21.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HLA-E  -     6p21.33   [Description]    (hg38-Dec_2013)
EnsemblHLA-E - 6p21.33 [CytoView hg19]  HLA-E - 6p21.33 [CytoView hg38]
Mapping of homologs : NCBIHLA-E [Mapview hg19]  HLA-E [Mapview hg38]
OMIM143010   
Gene and transcription
Genbank (Entrez)AB209870 AJ293263 AJ293264 AK098434 AK225048
RefSeq transcript (Entrez)NM_005516
RefSeq genomic (Entrez)NC_000006 NC_018917 NT_007592 NT_113891 NT_167245 NT_167246 NT_167247 NT_167248 NT_167249 NW_004929326
Consensus coding sequences : CCDS (NCBI)HLA-E
Cluster EST : UnigeneHs.650174 [ NCBI ]
CGAP (NCI)Hs.650174
Alternative Splicing GalleryENSG00000204592
Gene ExpressionHLA-E [ NCBI-GEO ]   HLA-E [ EBI - ARRAY_EXPRESS ]   HLA-E [ SEEK ]   HLA-E [ MEM ]
Gene Expression Viewer (FireBrowse)HLA-E [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3133
GTEX Portal (Tissue expression)HLA-E
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13747   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP13747  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13747
Splice isoforms : SwissVarP13747
PhosPhoSitePlusP13747
Domaine pattern : Prosite (Expaxy)IG_LIKE (PS50835)    IG_MHC (PS00290)   
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig/MHC_CS    Ig_C1-set    MHC_I-like_Ag-recog    MHC_I/II-like_Ag-recog    MHC_I_a    MHC_I_a_a1/a2    MHC_I_a_C   
Domain families : Pfam (Sanger)C1-set (PF07654)    MHC_I (PF00129)    MHC_I_C (PF06623)   
Domain families : Pfam (NCBI)pfam07654    pfam00129    pfam06623   
Domain families : Smart (EMBL)IGc1 (SM00407)  
Conserved Domain (NCBI)HLA-E
DMDM Disease mutations3133
Blocks (Seattle)HLA-E
PDB (SRS)1KPR    1KTL    1MHE    2ESV    3AM8    3BZE    3BZF    3CDG    3CII   
PDB (PDBSum)1KPR    1KTL    1MHE    2ESV    3AM8    3BZE    3BZF    3CDG    3CII   
PDB (IMB)1KPR    1KTL    1MHE    2ESV    3AM8    3BZE    3BZF    3CDG    3CII   
PDB (RSDB)1KPR    1KTL    1MHE    2ESV    3AM8    3BZE    3BZF    3CDG    3CII   
Structural Biology KnowledgeBase1KPR    1KTL    1MHE    2ESV    3AM8    3BZE    3BZF    3CDG    3CII   
SCOP (Structural Classification of Proteins)1KPR    1KTL    1MHE    2ESV    3AM8    3BZE    3BZF    3CDG    3CII   
CATH (Classification of proteins structures)1KPR    1KTL    1MHE    2ESV    3AM8    3BZE    3BZF    3CDG    3CII   
SuperfamilyP13747
Human Protein AtlasENSG00000204592
Peptide AtlasP13747
HPRD00877
IPIIPI00830076   IPI01021071   IPI00718879   IPI00010362   
Protein Interaction databases
DIP (DOE-UCLA)P13747
IntAct (EBI)P13747
FunCoupENSG00000204592
BioGRIDHLA-E
STRING (EMBL)HLA-E
ZODIACHLA-E
Ontologies - Pathways
QuickGOP13747
Ontology : AmiGOGolgi membrane  positive regulation of T cell mediated cytotoxicity  adaptive immune response  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of endogenous peptide antigen via MHC class Ib  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent  regulation of natural killer cell mediated immunity  positive regulation of natural killer cell mediated immunity  receptor binding  plasma membrane  cell surface  ER to Golgi transport vesicle membrane  antibacterial humoral response  phagocytic vesicle membrane  beta-2-microglobulin binding  beta-2-microglobulin binding  early endosome membrane  MHC class Ib protein complex  positive regulation of interleukin-13 production  positive regulation of interleukin-4 production  positive regulation of TRAIL production  positive regulation of tumor necrosis factor production  CD8-positive, alpha-beta T cell activation  protection from natural killer cell mediated cytotoxicity  MHC class I protein binding  peptide antigen binding  peptide antigen binding  MHC class I protein complex  innate immune response  natural killer cell lectin-like receptor binding  regulation of immune response  defense response to Gram-positive bacterium  positive regulation of immunoglobulin secretion  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  extracellular exosome  integral component of lumenal side of endoplasmic reticulum membrane  positive regulation of CD8-positive, alpha-beta T cell proliferation  
Ontology : EGO-EBIGolgi membrane  positive regulation of T cell mediated cytotoxicity  adaptive immune response  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of peptide antigen via MHC class I  antigen processing and presentation of endogenous peptide antigen via MHC class Ib  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent  antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent  regulation of natural killer cell mediated immunity  positive regulation of natural killer cell mediated immunity  receptor binding  plasma membrane  cell surface  ER to Golgi transport vesicle membrane  antibacterial humoral response  phagocytic vesicle membrane  beta-2-microglobulin binding  beta-2-microglobulin binding  early endosome membrane  MHC class Ib protein complex  positive regulation of interleukin-13 production  positive regulation of interleukin-4 production  positive regulation of TRAIL production  positive regulation of tumor necrosis factor production  CD8-positive, alpha-beta T cell activation  protection from natural killer cell mediated cytotoxicity  MHC class I protein binding  peptide antigen binding  peptide antigen binding  MHC class I protein complex  innate immune response  natural killer cell lectin-like receptor binding  regulation of immune response  defense response to Gram-positive bacterium  positive regulation of immunoglobulin secretion  interferon-gamma-mediated signaling pathway  type I interferon signaling pathway  extracellular exosome  integral component of lumenal side of endoplasmic reticulum membrane  positive regulation of CD8-positive, alpha-beta T cell proliferation  
Pathways : KEGGEndocytosis    Phagosome    Cell adhesion molecules (CAMs)    Antigen processing and presentation    Natural killer cell mediated cytotoxicity    Type I diabetes mellitus    HTLV-I infection    Herpes simplex infection    Epstein-Barr virus infection    Viral carcinogenesis    Autoimmune thyroid disease    Allograft rejection    Graft-versus-host disease    Viral myocarditis   
NDEx NetworkHLA-E
Atlas of Cancer Signalling NetworkHLA-E
Wikipedia pathwaysHLA-E
Orthology - Evolution
OrthoDB3133
GeneTree (enSembl)ENSG00000204592
Phylogenetic Trees/Animal Genes : TreeFamHLA-E
HOVERGENP13747
HOGENOMP13747
Homologs : HomoloGeneHLA-E
Homology/Alignments : Family Browser (UCSC)HLA-E
Gene fusions - Rearrangements
Fusion : MitelmanHLA-E/HLA-B [6p21.33/6p21.33]  
Fusion : MitelmanTSPAN14/HLA-E [10q23.1/6p21.33]  [t(6;10)(p21;q23)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHLA-E [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HLA-E
dbVarHLA-E
ClinVarHLA-E
1000_GenomesHLA-E 
Exome Variant ServerHLA-E
ExAC (Exome Aggregation Consortium)HLA-E (select the gene name)
Genetic variants : HAPMAP3133
Genomic Variants (DGV)HLA-E [DGVbeta]
DECIPHER (Syndromes)6:30457183-30461982  ENSG00000204592
CONAN: Copy Number AnalysisHLA-E 
Mutations
ICGC Data PortalHLA-E 
TCGA Data PortalHLA-E 
Broad Tumor PortalHLA-E
OASIS PortalHLA-E [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHLA-E  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHLA-E
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HLA-E
DgiDB (Drug Gene Interaction Database)HLA-E
DoCM (Curated mutations)HLA-E (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HLA-E (select a term)
intoGenHLA-E
Cancer3DHLA-E(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM143010   
Orphanet
MedgenHLA-E
Genetic Testing Registry HLA-E
NextProtP13747 [Medical]
TSGene3133
GENETestsHLA-E
Huge Navigator HLA-E [HugePedia]
snp3D : Map Gene to Disease3133
BioCentury BCIQHLA-E
ClinGenHLA-E
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3133
Chemical/Pharm GKB GenePA35081
Clinical trialHLA-E
Miscellaneous
canSAR (ICR)HLA-E (select the gene name)
Probes
Litterature
PubMed260 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHLA-E
EVEXHLA-E
GoPubMedHLA-E
iHOPHLA-E
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Dec 29 14:07:17 CET 2016

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