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HLA-B

Chr 6p21.33

major histocompatibility complex, class I, B

MANE:
ENST00000412585.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Cerebral vascular malformations

    Unknown
  • Familial Meniere Disease

Disease associations (Open Targets)

  • COVID-19

    0.49
  • neurodegenerative disease

    0.47
  • diffuse large B-cell lymphoma

    0.40
  • spondyloarthropathy

    0.38
  • Stevens-Johnson syndrome

    0.38
  • head and neck squamous cell carcinoma

    0.37
  • esophageal cancer

    0.35
  • ebv-positive nodal t- and nk-cell lymphoma

    0.33
  • cervical squamous cell carcinoma

    0.29
  • lymphoma

    0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

HLA class I histocompatibility antigen, B alpha chain

Antigen-presenting major histocompatibility complex class I (MHCI) molecule. In complex with B2M/beta 2 microglobulin displays primarily viral and tumor-derived peptides on antigen-presenting cells for recognition by alpha-beta T cell receptor (TCR) on HLA-B-restricted CD8-positive T cells, guiding antigen-specific T cell immune response to eliminate infected or transformed cells (PubMed:23209413, PubMed:25808313, PubMed:29531227, PubMed:9620674). May also present self-peptides derived from the signal sequence of secreted or membrane proteins, although T cells specific for these peptides are usually inactivated to prevent autoreactivity (PubMed:18991276, PubMed:7743181). Both the peptide and the MHC molecule are recognized by TCR, the peptide is responsible for the fine specificity of antigen recognition and MHC residues account for the MHC restriction of T cells (PubMed:24600035, PubMed:29531227, PubMed:9620674). Typically presents intracellular peptide antigens of 8 to 13 amino acids that arise from cytosolic proteolysis via constitutive proteasome and IFNG-induced immunoproteasome (PubMed:23209413). Can bind different peptides containing allele-specific binding motifs, which are mainly defined by anchor residues at position 2 and 9 (PubMed:25808313, PubMed:29531227)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.