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; AllianceGenome:HGNC:914
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; AMYLD6; MHC1D4
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
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Genomic context

Location:: 15q21.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (44711517..44718145)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (42519493..42526121)
RS_2024_09	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

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

beta2-microglobulin induced apoptosis of tumor cells via the ERK signaling pathway by directly interacting with HFE in HER2-overexpressing breast cancer.
Title: β2-microglobulin induced apoptosis of tumor cells via the ERK signaling pathway by directly interacting with HFE in HER2-overexpressing breast cancer.
Plasma Proteomics Identifies B2M as a Regulator of Pulmonary Hypertension in Heart Failure With Preserved Ejection Fraction.
Title: Plasma Proteomics Identifies B2M as a Regulator of Pulmonary Hypertension in Heart Failure With Preserved Ejection Fraction.
Association Between Serum GDF15 Concentration and Total Mortality in Community-Dwelling Japanese Older Populations: The Involvement of Renal Dysfunction.
Title: Association Between Serum GDF15 Concentration and Total Mortality in Community-Dwelling Japanese Older Populations: The Involvement of Renal Dysfunction.
Differential HLA class I subunit (A, B, C heavy chain and beta2-microglobulin) expression levels in normal tissues.
Title: Differential HLA class I subunit (A, B, C heavy chain and β(2)-microglobulin) expression levels in normal tissues.
A New Prognostic Index for Extranodal Natural Killer/T-Cell Lymphoma:Incorporation of Serum beta-2 Microglobulin to PINK.
Title: A New Prognostic Index for Extranodal Natural Killer/T-Cell Lymphoma:Incorporation of Serum β-2 Microglobulin to PINK.
Dimers of D76N-beta2-microglobulin display potent antiamyloid aggregation activity.
Title: Dimers of D76N-β(2)-microglobulin display potent antiamyloid aggregation activity.
A novel substitution of proline (P32L) destabilises beta2-microglobulin inducing hereditary systemic amyloidosis.
Title: A novel substitution of proline (P32L) destabilises β2-microglobulin inducing hereditary systemic amyloidosis.
Correlation between serum beta2-microglobulin level and systemic lupus erythematosus disease activity: A PRISMA-compliant meta-analysis.
Title: Correlation between serum β2-microglobulin level and systemic lupus erythematosus disease activity: A PRISMA-compliant meta-analysis.
beta2-Microglobulin Maintains Glioblastoma Stem Cells and Induces M2-like Polarization of Tumor-Associated Macrophages.
Title: β2-Microglobulin Maintains Glioblastoma Stem Cells and Induces M2-like Polarization of Tumor-Associated Macrophages.
beta 2 -Microglobulin Participates in the Development of Vestibular Schwannoma by Regulating Nuclear Factor-kappaB.
Title: β 2 -Microglobulin Participates in the Development of Vestibular Schwannoma by Regulating Nuclear Factor-κB.

Submit: New GeneRIF Correction See all GeneRIFs (314)

Phenotypes

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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	not available
Hypoproteinemia, hypercatabolic MedGen: C1855796 OMIM: 241600 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

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
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables peptide antigen binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule 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 T cell mediated cytotoxicity	IEA Inferred from Electronic Annotation more info
involved_in amyloid fibril formation	IDA Inferred from Direct Assay more info	PubMed
involved_in antibacterial humoral response	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
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 antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
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 lipopolysaccharide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to nicotine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to Gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular iron ion homeostasis	IDA Inferred from Direct Assay 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 multicellular organismal-level iron ion homeostasis	IEA Inferred from Electronic Annotation more info
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 I protein complex	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
involved_in positive regulation of T cell activation	IBA Inferred from Biological aspect of Ancestor more info
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 immune response	IBA Inferred from Biological aspect of Ancestor more info
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	IPI Inferred from Physical Interaction 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 regulation of membrane depolarization	IDA Inferred from Direct Assay more info	PubMed
involved_in response to molecule of bacterial origin	IEA Inferred from Electronic Annotation more info
involved_in sensory perception of smell	IEA Inferred from Electronic Annotation more info

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
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
is_active_in endoplasmic reticulum	IC Inferred by Curator more info	PubMed
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
is_active_in late endosome membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in lysosomal membrane	IBA Inferred from Biological aspect of Ancestor more info
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

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Preferred Names: beta-2-microglobulin

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

NCBI Reference Sequences (RefSeq)

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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

P01884, P61769, Q540F8, Q6IAT8, Q9UCK0, Q9UD48, Q9UDF4

UniProtKB/TrEMBL

A6XMH4

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000015.10 Reference GRCh38.p14 Primary Assembly

Range

44711517..44718145

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005254549.4 → XP_005254606.1 beta-2-microglobulin isoform X1

See identical proteins and their annotated locations for XP_005254606.1

UniProtKB/TrEMBL

B4E0X1

Conserved Domains (1) summary

cd05770
Location:24 → 115

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