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protein

Beta-2-microglobulin

B2M
protein:P61769disease:adad:direction:up

Gene

B2M

Organism

Homo sapiens(9606)

Length

119 aa

Mass

13,715 Da

AI summarysource-grounded · cited inline
claude-haiku-4-5-20251001

Beta-2-microglobulin (B2M) is a 119-amino acid component of the class I major histocompatibility complex (MHC) that plays a central role in antigen presentation to the immune system (UniProt: P61769). The protein facilitates the presentation of peptide antigens and is involved in immune surveillance; its surface export can be modulated by pathogenic factors such as mycobacterial proteins.

B2M is expressed broadly in tissues expressing MHC class I molecules. UniProt associations include immunodeficiency 43 (IMD43), characterized by reduced immunoglobulin and albumin levels, and hereditary systemic amyloidosis type 6 (AMYLD6), in which B2M variants form amyloid deposits affecting the gastrointestinal, cardiac, and nervous systems.

B2M is upregulated in Alzheimer's disease brain tissue. Analysis of post-mortem AD brain compared to age-matched controls using tandem mass tag proteomics across subcellular fractions showed a mean log2 fold-change of 0.64 (Chaparral AD proteomics), indicating modest but consistent elevation. This upregulation may reflect altered immune-inflammatory responses in the AD brain microenvironment.

Generated from the curated entity record below. May contain errors — verify against source links.

Proteomics Evidence · AD

↑ Up in AD

P3

+0.635

P2

not detected

S2

not detected

S3

not detected

Mean log₂FC across detected fractions: +0.6351 (1 of 4 fractions detected)

Human post-mortem AD brain vs age-matched controls, TMT-labeled, 4 subcellular fractions (P2, P3, S2, S3), DDA proteomics.

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Function

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)

Disease associations

  • Immunodeficiency 43IMD43

    A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease.

  • Amyloidosis, hereditary systemic 6AMYLD6

    A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD6 is mainly characterized by gastrointestinal and cardiac symptoms. Neurologic involvement, sicca syndrome, and carpal tunnel syndrome may also be present. Inheritance is autosomal dominant.

Sources

Last updated 5/8/2026, 6:25:59 AM