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

Summary

Official Symbol: B2Mprovided by HGNC
Official Full Name: beta-2-microglobulinprovided by HGNC
Primary source: HGNC:HGNC:914
See related: Ensembl:ENSG00000166710 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
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: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 15q21.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
109.20210514	current	GRCh38.p13 (GCF_000001405.39)	15	NC_000015.10 (44711492..44718145)
105.20201022	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (45003715..45010343)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

See details

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 Apr 4 07:08:55 2018

Bibliography

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Enhanced accessibility and hydrophobicity of amyloidogenic intermediates of the beta2-microglobulin D76N mutant revealed by high-pressure experiments.
Title: Enhanced accessibility and hydrophobicity of amyloidogenic intermediates of the β2-microglobulin D76N mutant revealed by high-pressure experiments.
Association of beta-2-microglobulin and cardiovascular events and mortality: A systematic review and meta-analysis.
Title: Association of beta-2-microglobulin and cardiovascular events and mortality: A systematic review and meta-analysis.
Evaluation of beta-2 microglobulin, erythropoietin and tobacco use in polycythemic cases.
Title: Evaluation of beta-2 microglobulin, erythropoietin and tobacco use in polycythemic cases.
Respiratory ss-2-Microglobulin exerts pH dependent antimicrobial activity.
Title: Respiratory ß-2-Microglobulin exerts pH dependent antimicrobial activity.
Serum beta2-Microglobulin is Associated with Mortality in Hospitalized Patients with Exacerbated Chronic Obstructive Pulmonary Disease.
Title: Serum β2-Microglobulin is Associated with Mortality in Hospitalized Patients with Exacerbated Chronic Obstructive Pulmonary Disease.
Beta 2 microglobulin correlates with oxidative stress in elderly.
Title: Beta 2 microglobulin correlates with oxidative stress in elderly.
beta2-Microglobulin, Neutrophil Gelatinase-Associated Lipocalin, and Endocan Values in Evaluating Renal Functions in Patients with beta-Thalassemia Major.
Title: β2-Microglobulin, Neutrophil Gelatinase-Associated Lipocalin, and Endocan Values in Evaluating Renal Functions in Patients with β-Thalassemia Major.
beta2-microglobulin as a biomarker of pulmonary fibrosis development in COPD patients.
Title: β2-microglobulin as a biomarker of pulmonary fibrosis development in COPD patients.
Computational Evolution of Beta-2-Microglobulin Binding Peptides for Nanopatterned Surface Sensors.
Title: Computational Evolution of Beta-2-Microglobulin Binding Peptides for Nanopatterned Surface Sensors.
The role of the IT-state in D76N beta2-microglobulin amyloid assembly: A crucial intermediate or an innocuous bystander?
Title: The role of the I<sub>T</sub>-state in D76N β<sub>2</sub>-microglobulin amyloid assembly: A crucial intermediate or an innocuous bystander?

Submit: New GeneRIF Correction See all GeneRIFs (293)

Phenotypes

Go to the top of the page Help

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial visceral amyloidosis, Ostertag type MedGen: C0268389 OMIM: 105200 GeneReviews: Not available	Compare labs
Hypoproteinemia, hypercatabolic MedGen: C1855796 OMIM: 241600 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

GDB:454836 (e-PCR)
- UniSTS:157450

RH76 (e-PCR)
- UniSTS:65809

STS-S82300 (e-PCR)
- UniSTS:54814

D15S799 (e-PCR)
- UniSTS:10275

PMC151806P1 (e-PCR)
- UniSTS:271179

PMC316580P7 (e-PCR)
- UniSTS:273014

SGC31499 (e-PCR)
- UniSTS:27771

PMC126239P1 (e-PCR)
- UniSTS:270533

G62079 (e-PCR)
- UniSTS:139221

Homology

Homologs of the B2M gene: The B2M gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, and zebrafish.
Orthologs from Annotation Pipeline: 259 organisms have orthologs with human gene B2M
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables MHC class II protein complex binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
involved_in antigen processing and presentation of endogenous peptide antigen via MHC class I	IGI Inferred from Genetic Interaction more info	PubMed
involved_in antigen processing and presentation of exogenous peptide antigen via MHC class II	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent	IEA Inferred from Electronic Annotation more info
involved_in cellular response to iron ion	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cellular response to iron(III) ion	IEA Inferred from Electronic Annotation more info
involved_in cellular response to nicotine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune response	IEA Inferred from Electronic Annotation more info
involved_in immunoglobulin production involved in immunoglobulin-mediated immune response	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in iron ion homeostasis	IC Inferred by Curator more info	PubMed
involved_in iron ion transport	IEA Inferred from Electronic Annotation more info
involved_in learning or memory	IDA Inferred from Direct Assay more info	PubMed
involved_in learning or memory	ISS Inferred from Sequence or Structural Similarity more info
involved_in modulation of age-related behavioral decline	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of epithelial cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of forebrain neuron differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neurogenesis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of receptor binding	IDA Inferred from Direct Assay more info	PubMed
involved_in peptide antigen assembly with MHC class II protein complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of T cell activation	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in positive regulation of T cell cytokine production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of T cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cellular senescence	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ferrous iron binding	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of protein binding	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of receptor binding	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of receptor-mediated endocytosis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of transferrin receptor binding	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein homotetramerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein refolding	IEA Inferred from Electronic Annotation more info
involved_in regulation of erythrocyte differentiation	IEA Inferred from Electronic Annotation more info
involved_in regulation of iron ion transport	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to cadmium ion	IEA Inferred from Electronic Annotation more info
involved_in response to molecule of bacterial origin	IEA Inferred from Electronic Annotation more info
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in retina homeostasis	HEP more info	PubMed

Component	Evidence Code	Pubs
located_in ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in Golgi membrane	TAS Traceable Author Statement more info
part_of HFE-transferrin receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of MHC class I peptide loading complex	IDA Inferred from Direct Assay more info	PubMed
part_of MHC class I protein complex	NAS Non-traceable Author Statement more info	PubMed
part_of MHC class I protein complex	TAS Traceable Author Statement more info	PubMed
part_of MHC class II protein complex	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in early endosome lumen	TAS Traceable Author Statement more info
located_in early endosome membrane	TAS Traceable Author Statement more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in external side of plasma membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in membrane	HDA more info	PubMed
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in recycling endosome membrane	TAS Traceable Author Statement more info
located_in specific granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

Go to the top of the page Help

Preferred Names: beta-2-microglobulin

Names: beta chain of MHC class I molecules; beta-2-microglobin

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

NG_012920.2 RefSeqGene

Range

5041..12401

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1215

mRNA and Protein(s)

NM_004048.4 → NP_004039.1 beta-2-microglobulin precursor

See identical proteins and their annotated locations for NP_004039.1

Status: REVIEWED

Source sequence(s)

AC025270, AC122108

Consensus CDS

CCDS10113.1

UniProtKB/Swiss-Prot

P61769

Related

ENSP00000497910.1, ENST00000648006.3

Conserved Domains (1) summary

cd05770
Location:23 → 116

IgC1_beta2m; Class I major histocompatibility complex (MHC) beta-2-microglobulin; member of the C1-set of Ig superfamily (IgSF) domains