HLA-E major histocompatibility complex, class I, E
Gene ID: 3133, updated on 3-Apr-2024Gene type: protein coding
Also known as: QA1; HLA-6.2
- See all available tests in GTR for this gene
- Go to complete Gene record for HLA-E
- Go to Variation Viewer for HLA-E variants
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 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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. GeneReviews: Not available | |
| Common variants conferring risk of schizophrenia. GeneReviews: Not available | |
| Genetic predictors of medically refractory ulcerative colitis. GeneReviews: Not available | |
| Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. GeneReviews: Not available | |
| Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. GeneReviews: Not available | |
| Genome-wide association study implicates HLA-C*01:02 as a risk factor at the major histocompatibility complex locus in schizophrenia. GeneReviews: Not available | |
| Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder. GeneReviews: Not available | |
| Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. GeneReviews: Not available | |
| Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. GeneReviews: Not available | |
| Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. GeneReviews: Not available | |
| Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians. GeneReviews: Not available | |
| GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. GeneReviews: Not available | |
| HLA-Cw*1202-B*5201-DRB1*1502 haplotype increases risk for ulcerative colitis but reduces risk for Crohn's disease. GeneReviews: Not available | |
| Identification of independent risk loci for Graves' disease within the MHC in the Japanese population. GeneReviews: Not available | |
| Identification of nine novel loci associated with white blood cell subtypes in a Japanese population. GeneReviews: Not available | |
| Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations. GeneReviews: Not available | |
| Multiple genetic loci for bone mineral density and fractures. GeneReviews: Not available | |
| Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. GeneReviews: Not available | |
| Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia. GeneReviews: Not available | |
| Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. GeneReviews: Not available |
Genomic context
- Location:
- 6p22.1
- Sequence:
- Chromosome: 6; NC_000006.12 (30489509..30494194)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HLA-E variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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