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

2007-02-01  

Identity

HGNC
HLA-E
LOCATION
6p22.1
LOCUSID
3133
ALIAS
HLA-6.2,QA1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

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

References

Pubmed IDYearTitleCitations
361496102023Dynamic Alteration in HLA-E Expression and Soluble HLA-E via Interaction with Natural Killer Cells in Gastric Cancer.4
368229122023HLA-E*01:01 + HLA-E*01:01 genotype confers less susceptibility to COVID-19, while HLA-E*01:03 + HLA-E*01:03 genotype is associated with more severe disease.1
371409102023Intracellular trafficking of HLA-E and its regulation.11
373902232023HLA-E-restricted SARS-CoV-2-specific T cells from convalescent COVID-19 patients suppress virus replication despite HLA class Ia down-regulation.3
375586572023High-throughput characterization of HLA-E-presented CD94/NKG2x ligands reveals peptides which modulate NK cell activation.2
376380082023The complex HLA-E-nonapeptide in Behçet disease.0
379012272023Significance of HLA-E and its two NKG2 receptors in development of complications after allogeneic transplantation of hematopoietic stem cells.0
380074832023IFN-γ in ovarian tumor microenvironment upregulates HLA-E expression and predicts a poor prognosis.0
380645682023Antigen-specific memory NK cell responses against HIV and influenza use the NKG2/HLA-E axis.4
361496102023Dynamic Alteration in HLA-E Expression and Soluble HLA-E via Interaction with Natural Killer Cells in Gastric Cancer.4
368229122023HLA-E*01:01 + HLA-E*01:01 genotype confers less susceptibility to COVID-19, while HLA-E*01:03 + HLA-E*01:03 genotype is associated with more severe disease.1
371409102023Intracellular trafficking of HLA-E and its regulation.11
373902232023HLA-E-restricted SARS-CoV-2-specific T cells from convalescent COVID-19 patients suppress virus replication despite HLA class Ia down-regulation.3
375586572023High-throughput characterization of HLA-E-presented CD94/NKG2x ligands reveals peptides which modulate NK cell activation.2
376380082023The complex HLA-E-nonapeptide in Behçet disease.0

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