Free for academic non-profit institutions. Other users need a Commercial license

Aliases for HLA-E Gene

Aliases for HLA-E Gene

  • Major Histocompatibility Complex, Class I, E 2 3 5
  • MHC Class I Antigen E 3 4
  • HLA-6.2 3 4
  • HLA Class I Histocompatibility Antigen, Alpha Chain E 3
  • MHC Class Ib Antigen 3
  • HLAE 4
  • QA1 3

External Ids for HLA-E Gene

Previous GeneCards Identifiers for HLA-E Gene

  • GC06P030513
  • GC06P030228
  • GC06P030563
  • GC06P030565
  • GC06P030457
  • GC06P030257
  • GC06P030491
  • GC06P030635
  • GC06P030657
  • GC06P030764
  • GC06P030896
  • GC06P031055
  • GC06P031203

Summaries for HLA-E Gene

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 Hematopoietic Stem Cell Transplantation. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and HTLV-I infection. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and MHC class I protein binding. An important paralog of this gene is HLA-A.

UniProtKB/Swiss-Prot for HLA-E Gene

  • 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

Additional gene information for HLA-E Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLA-E Gene

Genomics for HLA-E Gene

GeneHancer (GH) Regulatory Elements for HLA-E Gene

Promoters and enhancers for HLA-E Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J030488 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.5 1473 4.2 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 HLA-E PPP1R10 TRIM39 DHX16 TRIM26 MDC1 ABCF1 PAIP1P1 ETF1P1 ZNRD1
GH06J030678 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +195.9 195920 13.5 MLX DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 NRM PPP1R18 DDX39B PPP1R10 LY6G5B DHX16 TRIM39 MDC1 ZNRD1 TRIM26
GH06J030792 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.1 +304.4 304449 2.1 ELF3 ZBTB40 RARA YY1 ZNF207 ATF7 IKZF2 RUNX3 SMARCA5 ZBTB11 IER3 VARS2 FLOT1 LINC00243 DDR1 DDR1-DT GTF2H4 HCG20 MUCL3 HLA-E
GH06J030527 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 8.1 +39.6 39624 3.5 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 IRF4 YY1 GC06M030528 ABCF1 TRIM39 IER3 DHX16 PRR3 MICD GNL1 MDC1 HCG18
GH06J030757 Enhancer 1.9 FANTOM5 Ensembl ENCODE dbSUPER 6.6 +274.9 274913 14 MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF263 IER3 PPP1R10 MDC1 TRIM39 DDX39B LY6G5B ZNRD1 VARS2 GTF2H4 NRM
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HLA-E on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HLA-E gene promoter:
  • Nkx2-5
  • STAT3
  • AP-1
  • MEF-2A
  • aMEF-2
  • RSRFC4
  • MyoD
  • NF-kappaB1

Genomic Locations for HLA-E Gene

Genomic Locations for HLA-E Gene
chr6:30,489,406-30,494,205
(GRCh38/hg38)
Size:
4,800 bases
Orientation:
Plus strand
chr6:30,457,183-30,461,982
(GRCh37/hg19)
Size:
4,800 bases
Orientation:
Plus strand

Genomic View for HLA-E Gene

Genes around HLA-E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLA-E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLA-E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for HLA-E Gene

  • Protein details for HLA-E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13747-HLAE_HUMAN
    Recommended name:
    HLA class I histocompatibility antigen, alpha chain E
    Protein Accession:
    P13747
    Secondary Accessions:
    • Q30169
    • Q9BT83
    • Q9GIY7
    • Q9GIY8

    Protein attributes for HLA-E Gene

    Size:
    358 amino acids
    Molecular mass:
    40157 Da
    Quaternary structure:
    • Heterodimer of an alpha chain and a beta chain (beta-2-microglobulin).

    Three dimensional structures from OCA and Proteopedia for HLA-E Gene

neXtProt entry for HLA-E Gene

Post-translational modifications for HLA-E Gene

  • Glycosylation at Asn107
  • Ubiquitination at Lys343, Lys191, Lys167, and Lys142
  • Modification sites at PhosphoSitePlus

Other Protein References for HLA-E Gene

No data available for DME Specific Peptides for HLA-E Gene

Domains & Families for HLA-E Gene

Gene Families for HLA-E Gene

Graphical View of Domain Structure for InterPro Entry

P13747

UniProtKB/Swiss-Prot:

HLAE_HUMAN :
  • Belongs to the MHC class I family.
Family:
  • Belongs to the MHC class I family.
genes like me logo Genes that share domains with HLA-E: view

Function for HLA-E Gene

Molecular function for HLA-E Gene

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

Phenotypes From GWAS Catalog for HLA-E Gene

Gene Ontology (GO) - Molecular Function for HLA-E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 18448674
GO:0005515 protein binding IPI 20483783
GO:0030881 beta-2-microglobulin binding IMP 12411439
GO:0042288 MHC class I protein binding IDA 9754572
GO:0042605 peptide antigen binding IMP 12411439
genes like me logo Genes that share ontologies with HLA-E: view
genes like me logo Genes that share phenotypes with HLA-E: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLA-E

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HLA-E Gene

Localization for HLA-E Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLA-E Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLA-E gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
golgi apparatus 5
endosome 4
cytosol 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HLA-E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 9754572
GO:0012507 ER to Golgi transport vesicle membrane TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with HLA-E: view

Pathways & Interactions for HLA-E Gene

genes like me logo Genes that share pathways with HLA-E: view

Interacting Proteins for HLA-E Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000365817%0d%0a9606.ENSP00000385432%0d%0a9606.ENSP00000251390%0d%0a9606.ENSP00000359073%0d%0a9606.ENSP00000349770%0d%0a9606.ENSP00000395590%0d%0a
Selected Interacting proteins: P13747-HLAE_HUMAN ENSP00000365817 for HLA-E Gene via UniProtKB STRING IID

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
HLA-F

Gene Ontology (GO) - Biological Process for HLA-E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001916 positive regulation of T cell mediated cytotoxicity IDA 25631937
GO:0002250 adaptive immune response IDA 25631937
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS,IEA --
GO:0002476 antigen processing and presentation of endogenous peptide antigen via MHC class Ib IDA 9754572
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
genes like me logo Genes that share ontologies with HLA-E: view

No data available for SIGNOR curated interactions for HLA-E Gene

Drugs & Compounds for HLA-E Gene

(6) Drugs for HLA-E Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adalimumab Approved Pharma 521
Certolizumab pegol Approved Pharma 131
Etanercept Approved, Investigational Pharma 413
Infliximab Approved Pharma 407
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1603
genes like me logo Genes that share compounds with HLA-E: view

Transcripts for HLA-E Gene

mRNA/cDNA for HLA-E Gene

Unigene Clusters for HLA-E Gene

Major histocompatibility complex, class I, E:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HLA-E

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HLA-E Gene

No ASD Table

Relevant External Links for HLA-E Gene

GeneLoc Exon Structure for
HLA-E
ECgene alternative splicing isoforms for
HLA-E

Expression for HLA-E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HLA-E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HLA-E Gene

This gene is overexpressed in Whole Blood (x12.7).

Protein differential expression in normal tissues from HIPED for HLA-E Gene

This gene is overexpressed in Skin (26.3) and Peripheral blood mononuclear cells (23.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HLA-E Gene



Protein tissue co-expression partners for HLA-E Gene

- Elite partner

SOURCE GeneReport for Unigene cluster for HLA-E Gene:

Hs.650174

Evidence on tissue expression from TISSUES for HLA-E Gene

  • Blood(4.9)
  • Pancreas(4.8)
  • Lung(4.7)
  • Nervous system(4.7)
  • Intestine(4.4)
  • Spleen(4.2)
  • Skin(3.7)
  • Kidney(3.5)
  • Stomach(3.3)
  • Heart(3.1)
  • Liver(3)
  • Lymph node(2.6)
  • Muscle(2.5)
  • Bone(2.1)
genes like me logo Genes that share expression patterns with HLA-E: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HLA-E Gene

Orthologs for HLA-E Gene

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

Orthologs for HLA-E Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PATR-E 34 33
  • 98.67 (n)
OneToOne
mouse
(Mus musculus)
Mammalia H2-T23 33
  • 79.5 (n)
H2-T-ps 16
rat
(Rattus norvegicus)
Mammalia RT1-S3 33
  • 77.97 (n)
Species where no ortholog for HLA-E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HLA-E Gene

ENSEMBL:
Gene Tree for HLA-E (if available)
TreeFam:
Gene Tree for HLA-E (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HLA-E: view image

Paralogs for HLA-E Gene

Paralogs for HLA-E Gene

genes like me logo Genes that share paralogs with HLA-E: view

Variants for HLA-E Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HLA-E Gene

HLAE_HUMAN-P13747
The following alleles of E-1 are known: E*01:01, E*01:02, E*01:03 and E*01:04. The sequence shown is that of E*01:01.

Sequence variations from dbSNP and Humsavar for HLA-E Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000413681 -- 30,489,388(+) T/A/G upstream_transcript_variant
rs1001937932 -- 30,492,442(+) T/G coding_sequence_variant, intron_variant, missense_variant
rs1002392425 -- 30,488,364(+) A/C upstream_transcript_variant
rs1003808081 -- 30,489,870(+) C/G coding_sequence_variant, missense_variant
rs1003909041 -- 30,490,398(+) G/A/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for HLA-E Gene

Variant ID Type Subtype PubMed ID
esv2731791 CNV deletion 23290073
esv3411275 CNV duplication 20981092
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv5242 CNV insertion 18451855
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv970103 CNV duplication 23825009

Variation tolerance for HLA-E Gene

Residual Variation Intolerance Score: 63.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.79; 33.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HLA-E Gene

Human Gene Mutation Database (HGMD)
HLA-E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLA-E

SNP Genotyping and Copy Number Assay Products

Disorders for HLA-E Gene

MalaCards: The human disease database

(1) MalaCards diseases for HLA-E Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
hematopoietic stem cell transplantation
- elite association - COSMIC cancer census association via MalaCards
Search HLA-E in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HLA-E

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HLA-E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HLA-E Gene

Publications for HLA-E Gene

  1. Ethnic variability in human leukocyte antigen-E haplotypes. (PMID: 19140831) Antoun A … Briggs D (Tissue antigens 2009) 3 22 44 58
  2. HLA-E gene polymorphism associated with susceptibility to Kawasaki disease and formation of coronary artery aneurysms. (PMID: 19180512) Lin YJ … Tsai FJ (Arthritis and rheumatism 2009) 3 22 44 58
  3. HLA-E*0101 and HLA-G*010101 reduce the risk of Behcet's disease. (PMID: 17257316) Park KS … Lee ES (Tissue antigens 2007) 3 22 44 58
  4. HLA-E*0101 allele in homozygous state favors severe bacterial infections in sickle cell anemia. (PMID: 17961774) Tamouza R … Charron D (Human immunology 2007) 3 22 44 58
  5. 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. (PMID: 16362895) Lajoie J … Roger M (The Journal of infectious diseases 2006) 3 22 44 58

Products for HLA-E Gene

Sources for HLA-E Gene