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    B2M beta-2-microglobulin [ Homo sapiens (human) ]

    Gene ID: 567, updated on 24-Aug-2015
    Official Symbol
    B2Mprovided by HGNC
    Official Full Name
    beta-2-microglobulinprovided by HGNC
    Primary source
    HGNC:HGNC:914
    See related
    Ensembl:ENSG00000166710; HPRD:00189; MIM:109700
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Orthologs
    Location:
    15q21.1
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (44711487..44718159)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45003685..45010357)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3, subunit J Neighboring gene spastic paraplegia 11 (autosomal recessive) Neighboring gene protein associated with topoisomerase II homolog 2 (yeast) Neighboring gene ring finger protein 4 pseudogene Neighboring gene tripartite motif containing 69

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of beta-2-microglobulin (B2M) PubMed
    Tat tat HIV-1 Tat represses transcription of the beta 2-microglobulin (B2M) promoter, thereby downregulating B2M expression, suggesting a mechanism by which HIV-1 could prevent cell surface expression of the MHC class I complex and avoid immune detection PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of beta-2-microglobulin (B2M) PubMed

    Go to the HIV-1, Human Interaction Database

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    glycoprotein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    T cell differentiation in thymus IEA
    Inferred from Electronic Annotation
    more info
     
    antigen processing and presentation of endogenous peptide antigen via MHC class I IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    antigen processing and presentation of exogenous peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
     
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS
    Traceable Author Statement
    more info
     
    antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent TAS
    Traceable Author Statement
    more info
     
    antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IEA
    Inferred from Electronic Annotation
    more info
     
    antigen processing and presentation of peptide antigen via MHC class I TAS
    Traceable Author Statement
    more info
     
    cellular response to iron ion IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cytokine-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    innate immune response TAS
    Traceable Author Statement
    more info
     
    interferon-gamma-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    iron ion homeostasis IC
    Inferred by Curator
    more info
    PubMed 
    negative regulation of receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T cell cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of T cell mediated cytotoxicity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of ferrous iron binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of ferrous iron import into cell IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of protein binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of receptor binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of receptor-mediated endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of transferrin receptor binding IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    protein refolding IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of defense response to virus by virus TAS
    Traceable Author Statement
    more info
     
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    response to cadmium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to drug IEA
    Inferred from Electronic Annotation
    more info
     
    response to molecule of bacterial origin IEA
    Inferred from Electronic Annotation
    more info
     
    retina homeostasis IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    viral process TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    HFE-transferrin receptor complex IC
    Inferred by Curator
    more info
    PubMed 
    HFE-transferrin receptor complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MHC class I protein complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
     
    early endosome lumen TAS
    Traceable Author Statement
    more info
     
    early endosome membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    external side of plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    focal adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    beta-2-microglobulin
    Names
    beta chain of MHC class I molecules
    beta-2-microglobin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012920.1 RefSeqGene

      Range
      5001..11673
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004048.2NP_004039.1  beta-2-microglobulin precursor

      See identical proteins and their annotated locations for NP_004039.1

      Status: REVIEWED

      Source sequence(s)
      AI686916, BC032589, BU658737
      Consensus CDS
      CCDS10113.1
      UniProtKB/Swiss-Prot
      P61769
      Related
      ENSP00000437604, ENST00000544417
      Conserved Domains (1) summary
      cd05770
      Location:24116
      IgC_beta2m; Class I major histocompatibility complex (MHC) beta2-microglobulin

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      44711487..44718159
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254549.2XP_005254606.1  

      See identical proteins and their annotated locations for XP_005254606.1

      UniProtKB/TrEMBL
      H0YL18
      Conserved Domains (1) summary
      cd05770
      Location:24115
      IgC_beta2m; Class I major histocompatibility complex (MHC) beta2-microglobulin

    Reference GRCh38.p2 ALT_REF_LOCI_1

    Genomic

    1. NT_187605.1 Reference GRCh38.p2 ALT_REF_LOCI_1

      Range
      34836..41507
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006725182.2XP_006725245.1  

      See identical proteins and their annotated locations for XP_006725245.1

      UniProtKB/TrEMBL
      H0YL18
      Conserved Domains (1) summary
      cd05770
      Location:24115
      IgC_beta2m; Class I major histocompatibility complex (MHC) beta2-microglobulin

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      45121781..45128453
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)