B2M Gene (Protein Coding)

Beta-2-Microglobulin

GC15P044711
GIFtS:
49
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 ... See more...

Aliases for B2M Gene

Aliases for B2M Gene

  • Beta-2-Microglobulin 2 3 4 5
  • Beta Chain Of MHC Class I Molecules 3
  • Beta-2-Microglobin 3
  • IMD43 3
  • B2M 5

External Ids for B2M Gene

Previous GeneCards Identifiers for B2M Gene

  • GC15P040370
  • GC15P037899
  • GC15P042582
  • GC15P042719
  • GC15P042790
  • GC15P045003
  • GC15P021827

Summaries for B2M Gene

Entrez Gene Summary for B2M Gene

  • 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]

CIViC Summary for B2M Gene

GeneCards Summary for B2M Gene

B2M (Beta-2-Microglobulin) is a Protein Coding gene. Diseases associated with B2M include Immunodeficiency 43 and Amyloidosis, Familial Visceral. Among its related pathways are HIV Life Cycle and Measles. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is HLA-DPA1.

UniProtKB/Swiss-Prot Summary for B2M Gene

  • Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553).

Gene Wiki entry for B2M Gene

Additional gene information for B2M Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for B2M Gene

Genomics for B2M Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for B2M Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around B2M on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for B2M

Top Transcription factor binding sites by QIAGEN in the B2M gene promoter:
  • ATF-2
  • GATA-1
  • GATA-6
  • POU3F2
  • SRY
  • STAT1
  • STAT1alpha
  • STAT1beta
  • TBP

Genomic Locations for B2M Gene

Latest Assembly
chr15:44,711,487-44,718,851
(GRCh38/hg38)
Size:
7,365 bases
Orientation:
Plus strand

Previous Assembly
chr15:45,003,715-45,010,343
(GRCh37/hg19 by Entrez Gene)
Size:
6,629 bases
Orientation:
Plus strand

chr15:45,003,675-45,011,075
(GRCh37/hg19 by Ensembl)
Size:
7,401 bases
Orientation:
Plus strand

Genomic View for B2M Gene

Genes around B2M on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
B2M Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for B2M Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for B2M Gene

Proteins for B2M Gene

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  • Protein details for B2M Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61769-B2MG_HUMAN
    Recommended name:
    Beta-2-microglobulin
    Protein Accession:
    P61769
    Secondary Accessions:
    • P01884
    • Q540F8
    • Q6IAT8
    • Q9UCK0
    • Q9UD48
    • Q9UDF4

    Protein attributes for B2M Gene

    Size:
    119 amino acids
    Molecular mass:
    13715 Da
    Quaternary structure:
    • Heterodimer of an alpha chain and a beta chain. Beta-2-microglobulin is the beta-chain of major histocompatibility complex class I molecules. Polymers of beta 2-microglobulin can be found in tissues from patients on long-term hemodialysis. B2M alone (not in complex with HLA-I) interacts with M.tuberculosis EsxA (ESAT-6) and an EsxA-EsxB (CFP-10) complex; the tripartite complex can be detected in the host endoplasmic reticulum (PubMed:25356553). The B2M-EsxA complex can be detected in patients with pleural tuberculosis and is stable from pH 4.0 to 8.0 and in the presence of 2M NaCl (PubMed:25356553). Forms a heterotrimer with HLA-E and a self- or a foreign peptide (PubMed:9427624). Forms a heterotrimer with HLA-G and a self-peptide (PubMed:17056715). Forms a heterotrimer with HLA-F and a self-peptide (PubMed:10605026). Forms a heterotrimer with MR1 and a metabolite antigen.

    Three dimensional structures from OCA and Proteopedia for B2M Gene

neXtProt entry for B2M Gene

Protein Expression for B2M Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for B2M Gene

  • Glycation of Ile-21 is observed in long-term hemodialysis patients.
  • Glycosylation at Ile21, Lys39, Lys61, Lys68, Lys78, Thr106, Lys111, and Lys114
  • Modification sites at PhosphoSitePlus

Other Protein References for B2M Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

No data available for DME Specific Peptides for B2M Gene

Domains & Families for B2M Gene

Gene Families for B2M Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for B2M Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for B2M Gene

GenScript: Design optimal peptide antigens:
  • Beta-2-microglobulin (B2MG_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P61769

UniProtKB/Swiss-Prot:

B2MG_HUMAN :
  • Belongs to the beta-2-microglobulin family.
Family:
  • Belongs to the beta-2-microglobulin family.
genes like me logo Genes that share domains with B2M: view

Function for B2M Gene

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  6. Cell Lines for research

Molecular function for B2M Gene

UniProtKB/Swiss-Prot Function:
Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553).
GENATLAS Biochemistry:
microglobulin,beta-2 mutated in any tumoral cells (with loss of HLA class 1 antigen)

Phenotypes From GWAS Catalog for B2M Gene

Gene Ontology (GO) - Molecular Function for B2M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9427624
GO:0042802 identical protein binding IPI 17108084
GO:0042803 protein homodimerization activity IDA 28468825
genes like me logo Genes that share ontologies with B2M: view
genes like me logo Genes that share phenotypes with B2M: view

Human Phenotype Ontology for B2M Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for B2M Gene

MGI Knock Outs for B2M:
  • B2m B2m<tm1Jae>
  • B2m B2m<tm1Unc>
  • B2m B2m<tm1b(EUCOMM)Wtsi>

Animal Models for research

miRNA for B2M Gene

miRTarBase miRNAs that target B2M

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B2M

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for B2M Gene

Localization for B2M Gene

Subcellular locations from UniProtKB/Swiss-Prot for B2M Gene

Secreted. Cell surface. Note=Detected in serum and urine (PubMed:1336137, PubMed:7554280). {ECO:0000269 PubMed:7554280, ECO:0000269 Ref.6}.
Note=(Microbial infection) In the presence of M.tuberculosis EsxA-EsxB complex decreased amounts of B2M are found on the cell surface (PubMed:25356553). .

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for B2M gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytosol 5
golgi apparatus 5
endosome 4
cytoskeleton 3
nucleus 3
mitochondrion 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for B2M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space HDA 16502470
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005794 Golgi apparatus IDA --
genes like me logo Genes that share ontologies with B2M: view

Pathways & Interactions for B2M Gene

genes like me logo Genes that share pathways with B2M: view

SIGNOR curated interactions for B2M Gene

Is activated by:

Gene Ontology (GO) - Biological Process for B2M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis HEP 23580065
GO:0001916 positive regulation of T cell mediated cytotoxicity IEA --
GO:0002237 response to molecule of bacterial origin IEA --
GO:0002376 immune system process IEA --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA,TAS --
genes like me logo Genes that share ontologies with B2M: view

Drugs & Compounds for B2M Gene

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(80) Drugs for B2M Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 271
Opium Approved, Illicit Pharma Carrier, binder 16
3-Indolebutyric acid Experimental Pharma Target 0
N-Formylmethionine Experimental Pharma Target 0

(52) Additional Compounds for B2M Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with B2M: view

Transcripts for B2M Gene

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mRNA/cDNA for B2M Gene

1 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for B2M

Alternative Splicing Database (ASD) splice patterns (SP) for B2M Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4
SP1: - -
SP2: - - - -
SP3: -
SP4: -

Relevant External Links for B2M Gene

GeneLoc Exon Structure for
B2M

Expression for B2M Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for B2M Gene

mRNA expression in normal human tissues for B2M Gene
mRNA expression by GTEx for B2M GenemRNA expression by BioGPS for B2M Gene

mRNA differential expression in normal tissues according to GTEx for B2M Gene

This gene is overexpressed in Whole Blood (x8.3).

Protein differential expression in normal tissues from HIPED for B2M Gene

This gene is overexpressed in Cerebrospinal fluid (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for B2M Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for B2M

SOURCE GeneReport for Unigene cluster for B2M Gene:

Hs.534255

Evidence on tissue expression from TISSUES for B2M Gene

  • Blood(5)
  • Liver(5)
  • Lung(5)
  • Pancreas(5)
  • Spleen(4.9)
  • Skin(4.9)
  • Nervous system(4.9)
  • Intestine(4.9)
  • Eye(4.9)
  • Lymph node(4.9)
  • Bone marrow(4.9)
  • Stomach(4.8)
  • Kidney(4.6)
  • Bone(4.6)
  • Urine(4.6)
  • Heart(4)
  • Muscle(4)
  • Thyroid gland(3.9)
  • Adrenal gland(3.9)
  • Gall bladder(3.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for B2M Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • middle ear
  • mouth
  • nose
  • pharynx
  • sinus
  • skull
Thorax:
  • bronchus
  • heart
  • lung
Limb:
  • arm
  • forearm
  • radius
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with B2M: view

Primer products for research

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for B2M Gene

Orthologs for B2M Gene

This gene was present in the common ancestor of chordates.

Orthologs for B2M Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia B2M 30 31
  • 100 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia B2M 30 31
  • 80.23 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia B2M 30 31
  • 79.33 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia B2m 30
  • 73 (n)
Mouse
(Mus musculus)
 Mammalia B2m 30 17 31
  • 71.71 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia B2M 31
  • 52 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 44 (a)
 OneToMany
B2M 31
  • 26 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves B2M 30 31
  • 55.33 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 47 (a)
 OneToMany
-- 31
  • 39 (a)
 OneToMany
Zebrafish
(Danio rerio)
 Actinopterygii b2ml 30 31
  • 55.78 (n)
 OneToMany
b2m 31
  • 43 (a)
 OneToMany
B2M (3 of 3) 31
  • 17 (a)
 OneToMany
Species where no ortholog for B2M was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for B2M Gene

ENSEMBL:
Gene Tree for B2M (if available)
TreeFam:
Gene Tree for B2M (if available)
Aminode:
Evolutionary constrained regions (ECRs) for B2M: view image

Paralogs for B2M Gene

Paralogs for B2M Gene

(138) SIMAP similar genes for B2M Gene using alignment to 6 proteins:

  • B2MG_HUMAN
  • F5H6I0_HUMAN
  • H0YLF3_HUMAN
  • J3KNU0_HUMAN
  • K7N5M3_HUMAN
  • K7N5M4_HUMAN
genes like me logo Genes that share paralogs with B2M: view

Variants for B2M Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for B2M Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
841336 Uncertain Significance: Hypoproteinemia, hypercatabolic 44,715,440(+) G/T
NM_004048.4(B2M):c.85G>T (p.Val29Phe) 		MISSENSE
rs1023835002 Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck. Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck 44,711,547(+) A/GA/T
NM_004048.3(B2M):c.1A>G (p.Met1Val) 		INITIATIOR_CODON_VARIANT,MISSENSE
rs104894481 Uncertain Significance: Hypoproteinemia, hypercatabolic. Immunodeficiency 43 (IMD43) [MIM:241600] 44,711,577(+) G/Cp.Ala11Pro
NM_004048.3(B2M):c.31G>C (p.Ala11Pro) 		MISSENSE
rs1057519877 Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck 44,711,549(+) G/A
NM_004048.3(B2M):c.3G>A (p.Met1Ile) 		INITIATIOR_CODON_VARIANT,MISSENSE
rs1057519879 Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck. Likely Pathogenic: Multiple myeloma; Malignant melanoma of skin; Non-Hodgkin lymphoma; Lung adenocarcinoma; Small cell lung carcinoma; Squamous cell lung carcinoma; Neoplasm of the large intestine; Adenocarcinoma of stomach; Ovarian Serous Cystadenocarcinoma; Squamous cell carcinoma of the head and neck 44,711,548(+) T/CT/G
NM_004048.3(B2M):c.2T>C (p.Met1Thr) 		INITIATIOR_CODON_VARIANT,MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for B2M Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for B2M Gene

Variant ID Type Subtype PubMed ID
esv2760029 CNV gain+loss 17122850
nsv832990 CNV gain 17160897

Variation tolerance for B2M Gene

Residual Variation Intolerance Score: 44.4% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for B2M Gene

Human Gene Mutation Database (HGMD)
B2M
SNPedia medical, phenotypic, and genealogical associations of SNPs for
B2M

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for B2M Gene

Disorders for B2M Gene

MalaCards: The human disease database

(137) MalaCards diseases for B2M Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 43
  • imd43
amyloidosis, familial visceral
  • amyloidosis viii
variant abeta2m amyloidosis
  • autosomal dominant beta2-microglobulinic amyloidosis
immunodeficiency by defective expression of mhc class i
  • bare lymphocyte syndrome type 1
lymphoma, non-hodgkin, familial
  • non-hodgkin lymphoma; nhl
- elite association - COSMIC cancer census association via MalaCards
Search B2M in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

B2MG_HUMAN
  • Immunodeficiency 43 (IMD43) [MIM:241600]: A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease. {ECO:0000269 PubMed:16549777}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Amyloidosis 8 (AMYL8) [MIM:105200]: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system. {ECO:0000269 PubMed:22693999}. Note=The disease is caused by variants affecting the gene represented in this entry. Apart from the presence of causative mutations, beta-2-microglobulin may adopt the fibrillar configuration of amyloid when its serum levels are persistently high. High beta(2)-microglobulin serum levels result in amyloidosis in patients on long-term hemodialysis (PubMed:7918443). In contrast to patients with dialysis-related amyloidosis, patients with hereditary amyloidosis have normal circulating concentrations of beta2-microglobulin (PubMed:22693999). {ECO:0000269 PubMed:22693999, ECO:0000269 PubMed:7918443}.

Genatlas disease for B2M Gene

amyloidosis,hemodialysis-related (B2M deposit)

Additional Disease Information for B2M

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with B2M: view

Publications for B2M Gene

  1. Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. (PMID: 22693999) Valleix S … Bellotti V (The New England journal of medicine 2012) 3 4 74
  2. β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system. (PMID: 25702838) Ardeniz Ö … Warnatz K (The Journal of allergy and clinical immunology 2015) 3 74
  3. The ESAT-6 protein of Mycobacterium tuberculosis interacts with beta-2-microglobulin (β2M) affecting antigen presentation function of macrophage. (PMID: 25356553) Sreejit G … Mukhopadhyay S (PLoS pathogens 2014) 3 4
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  5. Human beta-2 microglobulin W60V mutant structure: Implications for stability and amyloid aggregation. (PMID: 19284997) Ricagno S … Bolognesi M (Biochemical and biophysical research communications 2009) 3 4

ExternalLinks

View latest publications for B2M gene in Mastermind

Products for B2M Gene

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