B2M beta-2-microglobulin [Homo sapiens] - Gene

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Summary

Official Symbol: B2Mprovided by HGNC
Official Full Name: beta-2-microglobulinprovided by HGNC
Primary source: HGNC:914
Locus tag: CDABP0092
See related: Ensembl:ENSG00000166710; HPRD:00189; 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
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. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Sep 2009]

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Genomic context

Location :: 15q21-q22.2

Sequence :: Chromosome: 15; NC_000015.9 (45003685..45010357)

See B2M in Epigenomics, MapViewer

Chromosome 15 - NC_000015.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

B2M mutations may contribute to the favourable outcome of high-level microsatellite instability colon cancer patients and should therefore be evaluated as a potential prognostic marker in future clinical trials
Title: Microsatellite instability and Beta2-Microglobulin mutations as prognostic markers in colon cancer: results of the FOGT-4 trial.
This study showed that the increase in beta2-microglobulin was independently associated with blood pressure in a general population.
Title: Increases in urinary albumin and beta2-microglobulin are independently associated with blood pressure in the Japanese general population: the Takahata Study.
In 29 percent of diffuse large B cell lymphoma cases, mutations and deletions inactivate the beta2-Microglobulin gene, thus preventing the cell-surface expression of the HLA class-I complex
Title: Combined genetic inactivation of β2-Microglobulin and CD58 reveals frequent escape from immune recognition in diffuse large B cell lymphoma.
Lack of significant differences in beta2-M expression level in normal and tumor tissues indicated that beta2-M can be used as reference gene in studies of gene expression in gastrointestinal tract tumors.
Title: [Evaluation of beta2-microglobuline expression level in gastrointestinal tract tumors due to usefulness as a reference gene in PCR method].
beta2-microglobulin levels are positively associated with insulin resistance in chronic kidney disease patients receiving dialysis.
Title: β2-Microglobulin, pulse pressure and metabolic alterations in hemodialysis patients.
Selective covalent labeling reactions combined with mass spectrometry are used to investigate the amino acids responsible for mediating tetramer formation in wild-type beta2m.
Title: Structural insights into the pre-amyloid tetramer of β-2-microglobulin from covalent labeling and mass spectrometry.
plasma beta-2-microglobulin levels were associated with higher aortic stiffness irrespective of cardiovascular disease risk factors
Title: β2-microglobulin, a novel biomarker of peripheral arterial disease, independently predicts aortic stiffness in these patients.
Results suggest that Tmp21 is a novel protein that preferentially binds to Beta(2)-microglobulin-free MHC-I heavy chains.
Title: Tmp21, a novel MHC-I interacting protein, preferentially binds to Β2-microglobulin-free MHC-I heavy chains.
A direct correlation was observed between subject age and the serum concentration of b2-microglobulin in healthy subjects older than 40 years of age
Title: Value of β2-microglobulin in the serum of healthy subjects older than 40 years.
Beta 2 microglobulin may have a role in cardiovascular events in patients with asymptomatic carotid atherosclerosis
Title: Beta 2 microglobulin and the risk for cardiovascular events in patients with asymptomatic carotid atherosclerosis.

Submit: New GeneRIF Correction See all (157)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Hypoproteinemia, hypercatabolic

MIM: 241600

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
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

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P61769	P01023	A2M	HPRD	PubMed
P61769	P61769	B2M	HPRD	PubMed
P61769	P46379	BAG6	HPRD	PubMed
P61769	P27797	CALR	HPRD	PubMed
P61769	P06126	CD1A	HPRD	PubMed
P61769	P29016	CD1B	HPRD	PubMed
P61769	P15813	CD1D	HPRD	PubMed
P61769	P15812	CD1E	HPRD	PubMed
P61769	P01732	CD8A	HPRD	PubMed
P61769	P55899	FCGRT	HPRD	PubMed
P61769	Q30201	HFE	HPRD	PubMed
P61769	P01891	HLA-A	HPRD	PubMed
P61769	P01889	HLA-B	HPRD	PubMed
P61769	Q95604	HLA-C	HPRD	PubMed
P61769	P13747	HLA-E	HPRD	PubMed
P61769	P30511	HLA-F	HPRD	PubMed
P61769	P17693	HLA-G	HPRD	PubMed
P61769	Q8NHL6	LILRB1	HPRD	PubMed
P61769	O95084	PRSS23	HPRD	PubMed
BioGRID:107044	BioGRID:106524	A2M	BioGRID	PubMed	Reconstituted Complex
BioGRID:107044	BioGRID:113647	BAG6	BioGRID	PubMed	Two-hybrid
BioGRID:107044	BioGRID:107350	CD1D	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107044	BioGRID:109142	GRB2	BioGRID	PubMed	Two-hybrid
BioGRID:107044	BioGRID:109378	HLA-E	BioGRID	PubMed	Co-crystal Structure
BioGRID:107044	BioGRID:116279	PRSS23	BioGRID	PubMed	Two-hybrid
BioGRID:107044	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
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 peptide antigen via MHC class I	TAS Traceable Author Statement more info
cytokine-mediated signaling pathway	TAS Traceable Author Statement more info
immune response	NAS Non-traceable Author Statement more info	PubMed
interferon-gamma-mediated signaling pathway	TAS Traceable Author Statement 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
viral reproduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
ER to Golgi transport vesicle membrane	TAS Traceable Author Statement more info
Golgi membrane	TAS Traceable Author Statement more info
MHC class I protein complex	IEA Inferred from Electronic Annotation 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
extracellular region	NAS Non-traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info
phagocytic vesicle membrane	TAS Traceable Author Statement more info
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: beta-2-microglobulin

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

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NCBI Reference Sequences (RefSeq)

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_012920.1 RefSeqGene

Range

5001..11673

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AI686916, BC032589, BU658737

Consensus CDS

CCDS10113.1

UniProtKB/Swiss-Prot

P61769

Related

ENSP00000452780, OTTHUMP00000161912, ENST00000558401, OTTHUMT00000254007

Conserved Domains (1) summary

cd05770
Location:24 – 116
Blast Score: 431

IgC_beta2m; Class I major histocompatibility complex (MHC) beta2-microglobulin

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000015.9 Reference GRCh37.p5 Primary Assembly

Range

45003685..45010357

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000147.1 Alternate HuRef

Range

21827296..21833968

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC025270.6 (122057..128483)	None
genomic	AC122108.2 (10809..11054)	None
genomic	CH471082.1	EAW77276.1
		EAW77277.1
		EAW77278.1
genomic	DQ217933.1	ABB01003.1
genomic	HH794631.1	CBX87172.1
genomic	M17987.1	AAA51811.1
mRNA	AB021288.1	BAA35182.1
mRNA	AF072097.1	AAD48083.1
mRNA	AI686916.1	None
mRNA	AK026463.1	None
mRNA	AK303560.1	BAG64583.1
mRNA	AK315776.1	BAG38125.1
mRNA	AY007153.1	AAG02006.1
mRNA	AY187687.1	AAO20842.1
mRNA	BC032589.1	AAH32589.1
mRNA	BC064910.1	AAH64910.1
mRNA	BU658737.1	None
mRNA	CR457066.1	CAG33347.1
mRNA	DQ839493.1	ABI63354.1
mRNA	DQ839494.1	ABI63355.1
mRNA	DQ884406.1	ABI63373.1
mRNA	S54761.1	AAB25312.1
mRNA	S82297.1	AAD14387.1
mRNA	S82300.1	AAD14388.1
mRNA	V00567.1	CAA23830.1
mRNA	X07621.1	None
other-genetic	DQ890551.2	ABM92168.1
other-genetic	DQ893711.2	ABM84637.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P61769.1	GenPept	UniProtKB/Swiss-Prot:P61769
Q16446	GenPept	UniProtKB/TrEMBL:Q16446
Q9UM88	GenPept	UniProtKB/TrEMBL:Q9UM88