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

2007-02-01  

Identity

HGNC
LOCATION
6p22.1
LOCUSID
ALIAS
HLA-6.2,QA1
FUSION GENES

Other Information

Locus ID:

NCBI: 3133
MIM: 143010
HGNC: 4962
Ensembl: ENSG00000204592

Variants:

dbSNP: 3133
ClinVar: 3133
TCGA: ENSG00000204592
COSMIC: HLA-E

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204592ENST00000376630P13747
ENSG00000204592ENST00000376630A0A4E9D3W4

Expression (GTEx)

0
500
1000
1500
2000
2500
3000

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Antigen processing and presentationKEGGko04612
Natural killer cell mediated cytotoxicityKEGGko04650
Type I diabetes mellitusKEGGko04940
Autoimmune thyroid diseaseKEGGko05320
Allograft rejectionKEGGko05330
Graft-versus-host diseaseKEGGko05332
Cell adhesion molecules (CAMs)KEGGhsa04514
Antigen processing and presentationKEGGhsa04612
Natural killer cell mediated cytotoxicityKEGGhsa04650
Type I diabetes mellitusKEGGhsa04940
Autoimmune thyroid diseaseKEGGhsa05320
Allograft rejectionKEGGhsa05330
Graft-versus-host diseaseKEGGhsa05332
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144
Viral myocarditisKEGGhsa05416
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
HTLV-I infectionKEGGko05166
HTLV-I infectionKEGGhsa05166
Herpes simplex infectionKEGGko05168
Herpes simplex infectionKEGGhsa05168
Epstein-Barr virus infectionKEGGhsa05169
Epstein-Barr virus infectionKEGGko05169
Viral carcinogenesisKEGGhsa05203
Viral carcinogenesisKEGGko05203
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen Presentation: Folding, assembly and peptide loading of class I MHCREACTOMER-HSA-983170
Antigen processing-Cross presentationREACTOMER-HSA-1236975
ER-Phagosome pathwayREACTOMER-HSA-1236974
Endosomal/Vacuolar pathwayREACTOMER-HSA-1236977
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon alpha/beta signalingREACTOMER-HSA-909733
Interferon gamma signalingREACTOMER-HSA-877300

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10004adalimumabChemicalClinicalAnnotationassociatedPD
PA165107055certolizumab pegolChemicalClinicalAnnotationassociatedPD
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD
PA449515etanerceptChemicalClinicalAnnotationassociatedPD
PA450428methotrexateChemicalClinicalAnnotationassociatedPD
PA452347glucocorticoidsChemicalClinicalAnnotationassociatedPD
PA452639infliximabChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
124610822002HLA-E-dependent presentation of Mtb-derived antigen to human CD8+ T cells.77
210570812010HLA-E and HLA-G expression in classical HLA class I-negative tumors is of prognostic value for clinical outcome of early breast cancer patients.76
124114392003HLA-E allelic variants. Correlating differential expression, peptide affinities, crystal structures, and thermal stabilities.72
128742282003Protein expression and peptide binding suggest unique and interacting functional roles for HLA-E, F, and G in maternal-placental immune recognition.68
183321822008CD94-NKG2A recognition of human leukocyte antigen (HLA)-E bound to an HLA class I leader sequence.67
124610762002A signal peptide derived from hsp60 binds HLA-E and interferes with CD94/NKG2A recognition.65
184486742008Structural basis for NKG2A/CD94 recognition of HLA-E.65
156818282005The HLA-A2 restricted T cell epitope HCV core 35-44 stabilizes HLA-E expression and inhibits cytolysis mediated by natural killer cells.64
253842192014IL-12-producing monocytes and HLA-E control HCMV-driven NKG2C+ NK cell expansion.63
228834332012Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia.55

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46465/hla-e