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Gene Gene information from NCBI Gene database.
Entrez ID 3133
Gene name Major histocompatibility complex, class I, E
Gene symbol HLA-E
Synonyms (NCBI Gene)
HLA-6.2QA1
Chromosome 6
Chromosome location 6p22.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
474 Show/Hide all (474)
miRTarBase ID miRNA Experiments Reference
MIRT049514 hsa-miR-92a-3p CLASH 23622248
MIRT038407 hsa-miR-296-3p CLASH 23622248
MIRT722051 hsa-miR-124-3p HITS-CLIP 19536157
MIRT722049 hsa-miR-5582-5p HITS-CLIP 19536157
MIRT722048 hsa-miR-605-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
HIVEP2 Unknown 1409593
MYC Activation 8206526
MYCN Unknown 8895520
STAT1 Unknown 11137213
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
77 Show/Hide all (77)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001815 Process Positive regulation of antibody-dependent cellular cytotoxicity IDA 30134159
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IBA
GO:0001916 Process Positive regulation of T cell mediated cytotoxicity IDA 20195504, 25631937
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
143010 4962 ENSG00000204592
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P13747
Protein name HLA class I histocompatibility antigen, alpha chain E (MHC class I antigen E) [Cleaved into: Soluble HLA class I histocompatibility antigen, alpha chain E (sHLA-E)]
Protein function Non-classical major histocompatibility class Ib molecule involved in immune self-nonself discrimination. In complex with B2M/beta-2-microglobulin binds nonamer self-peptides derived from the signal sequence of classical MHC class Ia molecules (V
PDB 1KPR , 1KTL , 1MHE , 2ESV , 3AM8 , 3BZE , 3BZF , 3CDG , 3CII , 5W1V , 5W1W , 6GGM , 6GH1 , 6GH4 , 6GHN , 6GL1 , 6ZKW , 6ZKX , 6ZKY , 6ZKZ , 7BH8 , 7NDQ , 7NDT , 7NDU , 7P49 , 7P4B , 8QFY , 8RLT , 8RLU , 8RLV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00129 MHC_I 22 → 200 Class I Histocompatibility antigen, domains alpha 1 and 2 Domain
PF06623 MHC_I_C 334 → 355 MHC_I C-terminus Family
PF07654 C1-set 207 → 287 Immunoglobulin C1-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in secretory endometrial cells during pregnancy (at protein level). The expression in nonlymphoid tissues is restricted to endothelial cells from all types of vessels, including arteries, veins, capillaries, and lymphatics (a
Sequence
Sequence length 358
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Endocytosis ER-Phagosome pathway
Phagosome Endosomal/Vacuolar pathway
Cellular senescence Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Cell adhesion molecules DAP12 interactions
Antigen processing and presentation DAP12 signaling
Natural killer cell mediated cytotoxicity Interferon gamma signaling
Type I diabetes mellitus Interferon alpha/beta signaling
Human cytomegalovirus infection Antigen Presentation: Folding, assembly and peptide loading of class I MHC
Human papillomavirus infection  
Human T-cell leukemia virus 1 infection  
Kaposi sarcoma-associated herpesvirus infection  
Herpes simplex virus 1 infection  
Epstein-Barr virus infection  
Human immunodeficiency virus 1 infection  
Viral carcinogenesis  
Autoimmune thyroid disease  
Allograft rejection  
Graft-versus-host disease  
Viral myocarditis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (12)
Phenotype Name Clinical Significance Source Reference Evidence Score
ASTHMA — GWAS catalog 31036433
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA, OCCUPATIONAL — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER — GWAS catalog 31488892, 37340002
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA — GWAS catalog 31488892, 37340002
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (72)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute intermittent porphyria Intermittent Porphyria BEFREE 17119950
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 28883078, 29969046, 31425756
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia LHGDN 17961774
★★★★★
★☆☆☆☆
Found in Text Mining only
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 17665395, 19912639
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 25454626
★★★★★
★☆☆☆☆
Found in Text Mining only
AURAL ATRESIA, CONGENITAL Aural Atresia, Congenital BEFREE 19180512
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 10689118, 23039207, 23376792
★★★★★
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome BEFREE 17257316, 17767552
★★★★★
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet Syndrome LHGDN 17767552
★★★★★
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder PSYGENET_DG 21037240
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations