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

Gene ID: 567, updated on 3-Jun-2018
Official Symbol
B2Mprovided by HGNC
Official Full Name
beta-2-microglobulinprovided by HGNC
Primary source
HGNC:HGNC:914
See related
Ensembl:ENSG00000166710 MIM:109700; Vega:OTTHUMG00000131247
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
Also known as
IMD43
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]
Expression
Ubiquitous expression in spleen (RPKM 1527.0), lymph node (RPKM 1335.3) and 24 other tissues See more
Orthologs
See B2M in Genome Data Viewer
Location:
15q21.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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 SPG11, spatacsin vesicle trafficking associated Neighboring gene PAT1 homolog 2 Neighboring gene ring finger protein 4 pseudogene Neighboring gene tripartite motif containing 69

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

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
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, 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 protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to iron ion IGI
Inferred from Genetic Interaction
more info
PubMed 
cellular response to iron(III) ion IEA
Inferred from Electronic Annotation
more info
 
ferric iron import IEA
Inferred from Electronic Annotation
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 neuron projection development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of receptor binding IDA
Inferred from Direct Assay
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
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 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 erythrocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of immune response TAS
Traceable Author Statement
more info
 
regulation of iron ion import IGI
Inferred from Genetic Interaction
more info
PubMed 
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 HEP PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
MHC class I protein complex IEA
Inferred from Electronic Annotation
more info
 
cytosol 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 HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space HDA PubMed 
focal adhesion HDA PubMed 
membrane HDA 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
 
recycling endosome membrane TAS
Traceable Author Statement
more info
 
specific granule lumen TAS
Traceable Author Statement
more info
 
tertiary granule lumen 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_012920.2 RefSeqGene

    Range
    5041..12401
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004048.3NP_004039.1  beta-2-microglobulin precursor

    See identical proteins and their annotated locations for NP_004039.1

    Status: REVIEWED

    Source sequence(s)
    AC122108, AK315776, BC032589, BE645555
    Consensus CDS
    CCDS10113.1
    UniProtKB/Swiss-Prot
    P61769
    Related
    ENSP00000452780.1, OTTHUMP00000161912, ENST00000558401.5
    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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p12 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005254549.3XP_005254606.1  beta-2-microglobulin isoform X1

    See identical proteins and their annotated locations for XP_005254606.1

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

RNA

  1. XR_002957658.1 RNA Sequence

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187605.1 Reference GRCh38.p12 ALT_REF_LOCI_1

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