B2M Gene Summary [Human]

This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014]

Details

Type
Retained Intron
Official Symbol
B2M
Official Name
beta-2-microglobulin [Source:HGNC Symbol;Acc:HGNC:914]
Ensembl ID
ENSG00000166710
Bio databases IDs NCBI: 567 Ensembl: ENSG00000166710
Aliases beta-2-microglobulin
Synonyms AMYLD6, beta2-m, beta-2-MICROGLOBULIN, IMD43, Ly-m11, MHC1D4, MHC CLASS I beta, MHC CLASS I β, β-2-MICROGLOBULIN
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human B2M often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Immunoglobulin C1-set domain
  • immunoglobulin domain
  • protein homodimerization
  • protein binding
  • structural molecule
  • identical protein binding
  • transmembrane receptor

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
disease
  • diabetes mellitus
  • metastasis
  • diffuse large B-cell lymphoma
  • non-Hodgkin disease
  • Alzheimer disease
  • epithelial cancer
  • epithelial neoplasia
  • cancer
  • arthritis
  • acute kidney injury
regulated by
  • IL1B
  • colchicine
  • insulin
  • heavy metal
  • potassium chloride
  • mifepristone
  • lipopolysaccharide
  • tetrodotoxin
  • NFE2L2
  • TNF
role in cell
  • transmembrane potential
  • apoptosis
  • cell viability
  • depolarization
  • production in
  • expression in
  • replication in
  • proliferation
  • activation
  • activity

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • membrane fraction
  • secretory granule lumen
  • cell surface
  • Extracellular Space
  • organelle lumens
  • cellular membrane
  • endosomes
  • vesicles
  • Golgi Apparatus
  • Endoplasmic Reticulum
  • cytosol
  • endoplasmic reticulum lumen
  • plasma membrane extracellular face
  • Golgi membrane
  • endosomal membrane
  • recycling endosomes
  • membrane rafts
  • dendrites
  • exosomes
  • phagosomes
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human B2M gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of protein binding
  • multicellular organismal iron ion homeostasis
  • antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent
  • cellular response to iron ion
  • learning or memory
  • regulation of erythrocyte differentiation
  • cellular iron ion homeostasis
  • positive regulation of T cell activation
  • response to molecule of bacterial origin
  • protein homotetramerization
  • negative regulation of neuron projection development
  • negative regulation of forebrain neuron differentiation
  • sensory perception of smell
  • positive regulation of cellular senescence
  • antigen processing and presentation of endogenous peptide antigen via MHC class I
  • positive regulation of immune response
  • antigen processing and presentation of exogenous peptide antigen via MHC class II
  • positive regulation of receptor-mediated endocytosis
  • cellular response to nicotine
  • T cell differentiation in thymus
  • positive regulation of receptor binding
  • negative regulation of receptor binding
  • protein refolding
  • cellular response to iron(III) ion
  • peptide antigen assembly with MHC class I protein complex
  • peptide antigen assembly with MHC class II protein complex
  • iron ion transport
  • negative regulation of epithelial cell proliferation
  • positive regulation of T cell cytokine production
  • T cell mediated cytotoxicity
  • negative regulation of neurogenesis
  • positive regulation of T cell mediated cytotoxicity
  • regulation of iron ion transport

Cellular Component

Where in the cell the gene product is active
  • MHC class II protein complex
  • MHC class I peptide loading complex
  • specific granule lumen
  • external side of plasma membrane
  • Golgi membrane
  • endoplasmic reticulum
  • Golgi apparatus
  • extracellular region
  • lysosomal membrane
  • plasma membrane
  • MHC class I protein complex
  • early endosome membrane
  • late endosome membrane
  • endoplasmic reticulum lumen
  • extracellular space
  • extracellular vesicular exosome
  • early endosome lumen
  • focal adhesion
  • membrane
  • ER to Golgi transport vesicle membrane
  • cytosol
  • phagocytic vesicle membrane
  • recycling endosome membrane

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • peptide antigen binding
  • protein homodimerization activity
  • protein binding
  • structural molecule activity
  • MHC class II protein complex binding

Gene-Specific Assays for Results You Can Trust

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