HLA-E
major histocompatibility complex, class I, E
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]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs12207974 | 6:30,455,294 | C/G | upstream gene variant | — |
| rs1264459 | 6:30,455,920 | G/A | upstream gene variant | — |
| rs1059510 | 6:30,457,732 | T/G | missense variant | — |
| rs1264457 | 6:30,458,064 | G/A | missense variant | — |
| rs141487266 | 6:30,459,130 | A/C | — | likely benign |
| rs115051198 | 6:30,461,086 | A/G | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.