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B2M Gene(Protein Coding)

Beta-2-Microglobulin

GCID:
GC15P044711
GIFtS:
60
Genes Participants
UDN Logo

Aliases for B2M Gene

Aliases for B2M Gene

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

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 Cytokine Signaling in Immune system and Innate Immune System. Gene Ontology (GO) annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for B2M Gene

Genomics for B2M Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for B2M Gene

Promoters and enhancers for B2M Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH15I044705 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 563.7 0.0 -9 11.6 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 IRF4 B2M PATL2 SPG11 CTDSPL2 TRIM69 ENSG00000259563 SPATA5L1 WDR76 CASC4 GC15M044672
GH15I044661 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 21.4 -46.8 -46823 6 HDGF PKNOX1 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SPG11 B2M CTDSPL2 ENSG00000259563 WDR76 TRIM69 ENSG00000249839 CATSPER2 PATL2 ENSG00000206957
GH15I044723 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 16.3 +16.4 16445 9.7 DMAP1 IRF4 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D GLIS1 RCOR2 TRIM69 LOC100419583 B2M PATL2 SPG11 GC15P044732 GC15M044672
GH15I045047 Enhancer 1.5 FANTOM5 Ensembl ENCODE 6 +337.5 337452 2.6 PKNOX1 SMAD1 ATF1 ARNT ZNF280A TCF12 ZNF766 GATA2 ATF7 NCOA1 GC15M045048 ENSG00000252171 SORD SPG11 SPATA5L1 CTDSPL2 ENSG00000259563 B2M LOC100422669 ENSG00000259418
GH15I044674 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 3.6 -34.0 -34032 6.6 PKNOX1 POLR2A ZMYM3 EBF1 REST EZH2 ZKSCAN1 PATL2 B2M SPG11 CTDSPL2 GC15M044698 ENSG00000206957 GC15M044672
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around B2M on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the B2M gene promoter:

Genomic Locations for B2M Gene

Genomic Locations for B2M Gene
chr15:44,711,477-44,718,877
(GRCh38/hg38)
Size:
7,401 bases
Orientation:
Plus strand
chr15:45,003,675-45,011,075
(GRCh37/hg19)

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

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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).

    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 posLast=2121, posLast=3939, Lys61, posLast=6868, posLast=7878, Thr106, posLast=111111, and Lys114
  • Modification sites at PhosphoSitePlus

Other Protein References for B2M Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for B2M (beta 2-Microglobulin)

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 secreted proteins

Protein Domains for B2M Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for B2M Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for B2M Gene

GENATLAS Biochemistry:
microglobulin,beta-2 mutated in any tumoral cells (with loss of HLA class 1 antigen)
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).

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 9465039
GO:0042802 identical protein binding IPI 17108084
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:

Animal Model Products

Clone Products

  • Addgene plasmids 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 5
cytoskeleton 2
nucleus 2
lysosome 2
mitochondrion 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,IDA 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

Interacting Proteins for B2M Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000452780%0d%0a9606.ENSP00000399168%0d%0a9606.ENSP00000366005%0d%0a9606.ENSP00000353472%0d%0a9606.ENSP00000356552%0d%0a9606.ENSP00000357153%0d%0a
Selected Interacting proteins: P61769-B2MG_HUMAN ENSP00000452780 for B2M Gene via IID STRING UniProtKB MINT

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-C
HLA-DRB1
HFE

Gene Ontology (GO) - Biological Process for B2M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IEP,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 TAS,IEA --
genes like me logo Genes that share ontologies with B2M: view

No data available for SIGNOR curated interactions for B2M Gene

Drugs & Compounds for B2M Gene

Products:

  1. Drug

(74) 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 202
Doxycycline Approved, Investigational, Vet_approved Pharma Target 254
3-Indolebutyric acid Experimental Pharma Target 0
N-Formylmethionine Experimental Pharma Target 0

(58) 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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for B2M Gene

(2) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(5611) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for B2M Gene

Beta-2-microglobulin:
Representative Sequences:

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
B2M

Expression for B2M Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for B2M Gene



NURSA nuclear receptor signaling pathways regulating expression of B2M Gene:

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)
  • Intestine(4.9)
  • Pancreas(4.9)
  • Skin(4.9)
  • Spleen(4.9)
  • Nervous system(4.9)
  • Bone marrow(4.8)
  • Eye(4.8)
  • Lymph node(4.8)
  • Stomach(4.8)
  • Kidney(4.7)
  • Urine(4.7)
  • Bone(4.5)
  • Heart(3.8)
  • Muscle(3.7)
  • Thyroid gland(3.7)
  • Adrenal gland(3.6)
  • Gall bladder(3.4)

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

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 33 34
  • 100 (n)
cow
(Bos Taurus)
 Mammalia B2M 33 34
  • 80.23 (n)
dog
(Canis familiaris)
 Mammalia B2M 33 34
  • 79.33 (n)
rat
(Rattus norvegicus)
 Mammalia B2m 33
  • 73 (n)
mouse
(Mus musculus)
 Mammalia B2m 33 16 34
  • 71.71 (n)
oppossum
(Monodelphis domestica)
 Mammalia B2M 34
  • 52 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 44 (a)
 OneToMany
B2M 34
  • 26 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves B2M 33 34
  • 55.33 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 47 (a)
 OneToMany
-- 34
  • 39 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii b2ml 33 34
  • 55.78 (n)
b2m 34
  • 43 (a)
 OneToMany
B2M (3 of 3) 34
  • 17 (a)
 OneToMany
Species where no ortholog for B2M was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for B2M Gene

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

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

No data available for Paralogs for B2M Gene

Variants for B2M Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for B2M Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1023835002 likely-pathogenic, Multiple myeloma, Adenocarcinoma of lung, Ovarian Serous Cystadenocarcinoma, Adenocarcinoma of stomach, Colorectal Neoplasms, Malignant lymphoma, non-Hodgkin, Squamous cell carcinoma of lung, Malignant melanoma of skin, Squamous cell carcinoma of the head and neck, Small cell lung cancer 44,711,547(+) A/G/T initiator_codon_variant, missense_variant
rs104894481 pathogenic, Hypoproteinemia, hypercatabolic, Immunodeficiency 43 (IMD43) [MIM:241600] 44,711,577(+) G/C/T coding_sequence_variant, missense_variant
rs1057519877 likely-pathogenic, Colorectal Neoplasms, Ovarian Serous Cystadenocarcinoma, Malignant lymphoma, non-Hodgkin, Malignant melanoma of skin, Multiple myeloma, Adenocarcinoma of lung, Squamous cell carcinoma of the head and neck, Adenocarcinoma of stomach, Small cell lung cancer, Squamous cell carcinoma of lung 44,711,549(+) G/A initiator_codon_variant, missense_variant
rs1057519879 likely-pathogenic, Adenocarcinoma of lung, Multiple myeloma, Squamous cell carcinoma of the head and neck, Ovarian Serous Cystadenocarcinoma, Small cell lung cancer, Malignant lymphoma, non-Hodgkin, Squamous cell carcinoma of lung, Adenocarcinoma of stomach, Colorectal Neoplasms, Malignant melanoma of skin 44,711,548(+) T/C/G initiator_codon_variant, missense_variant
rs398122820 pathogenic, Familial visceral amyloidosis, Ostertag type, Amyloidosis 8 (AMYL8) [MIM:105200] 44,715,641(+) G/A coding_sequence_variant, missense_variant

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 Assay Products

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

Disorders for B2M Gene

MalaCards: The human disease database

(93) MalaCards diseases for B2M Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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 hla class 1
  • bare lymphocyte syndrome type 1
urinary system disease
  • non-neoplastic urinary tract disease
- 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
  • 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 mutations 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}.
  • 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 mutations affecting the gene represented in this entry.

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 of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with B2M: view

Publications for B2M Gene

  1. 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 58
  2. Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. (PMID: 22693999) Valleix S … Bellotti V (The New England journal of medicine 2012) 3 4 58
  3. 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 44 58
  4. 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 58
  5. Identification of beta2-microglobulin as a potential target for ovarian cancer. (PMID: 19829086) Yang HS … Peng F (Cancer biology & therapy 2009) 3 22 58

Products for B2M Gene

  • Addgene plasmids for B2M