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GenoLensGenoLens

B2M

Chr 15q21.1

beta-2-microglobulin

MANE:
ENST00000648006.3

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary systemic amyloidosis

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Periodic fever syndromes

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Immunodeficiency by defective expression of HLA class 1

    0.66
  • diffuse large B-cell lymphoma

    0.59
  • HIV infectious disease

    0.53
  • amyloidosis, hereditary systemic 6

    0.53
  • AL amyloidosis

    0.47
  • COVID-19

    0.47
  • non-Hodgkin lymphoma

    0.46
  • Familial renal amyloidosis

    0.45
  • familial visceral amyloidosis

    0.45
  • melanoma

    0.42

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

Protein function (UniProt)

Beta-2-microglobulin

Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553)

Curated MONDO disease pages that list B2M among their top associated genes.

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.