Free for academic non-profit institutions. Other users need a Commercial license

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 Hypoproteinemia, Hypercatabolic and Variant Abeta2m Amyloidosis. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters. 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for B2M Gene

Genomics for B2M Gene

Regulatory Elements for B2M Gene

Enhancers for B2M Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G044661 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13 -46.8 -46823 6.0 MLX CREB3L1 AGO1 DMAP1 YY1 ZNF143 NFYC TBX21 MEF2D SSRP1 B2M TRIM69 ENSG00000249839 SPG11 CATSPER2 PATL2 CTDSPL2 ENSG00000206957 GC15M044698
GH15G044705 1.8 FANTOM5 ENCODE dbSUPER 13.6 0.0 -10 11.6 HDGF PKNOX1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2 TRIM69 CTDSPL2 EIF3J-AS1 HNRNPMP1 B2M BLOC1S6 MFAP1 PATL2 SPG11 CASC4
GH15G044723 1.8 FANTOM5 ENCODE dbSUPER 7.8 +16.4 16445 9.7 CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 MEF2D TRIM69 HNRNPMP1 EIF3J-AS1 BLOC1S6 B2M PATL2 SPG11 LOC100419583 GC15M044672
GH15G045047 1.6 FANTOM5 Ensembl ENCODE 6 +337.5 337453 2.6 PKNOX1 ATF1 CREB3L1 ARNT TCF12 ZNF766 ELK1 GATA2 NCOA1 TBX21 SORD SPG11 SPATA5L1 B2M ENSG00000252171 GC15M045048 LOC100422669
GH15G044783 1.7 FANTOM5 Ensembl ENCODE 3 +73.1 73135 1.7 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF143 TRIM69 B2M GC15M044783 GC15M044790
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around B2M on UCSC Golden Path with GeneCards custom track

Promoters for B2M Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000075956 723 4001 HDGF PKNOX1 ARNT AGO1 WRNIP1 ARID4B SIN3A DMAP1 YBX1 ZNF2

Genomic Location for B2M Gene

Chromosome:
15
Start:
44,711,477 bp from pter
End:
44,718,877 bp from pter
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 StructureGene Density

RefSeq DNA sequence for B2M Gene

Proteins for B2M Gene

  • 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

Post-translational modifications for B2M Gene

  • Glycation of Ile-21 is observed in long-term hemodialysis patients.
  • Glycosylation at Ile21, posLast=3939, posLast=6161, posLast=6868, posLast=7878, posLast=106106, posLast=111111, and Lys114
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for B2M Gene

Domains & Families for B2M Gene

Gene Families for B2M Gene

Protein Domains for B2M Gene

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

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).

Gene Ontology (GO) - Molecular Function for B2M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IPI 9465039
GO:0005515 protein binding IPI 10638746
GO:0042802 identical protein binding IPI 21569201
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for B2M

Flow Cytometry Products

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

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 TAS,IEA --
GO:0005615 extracellular space 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://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000452780%0d%0a9606.ENSP00000399168%0d%0a9606.ENSP00000353472%0d%0a9606.ENSP00000366005%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 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

No data available for SIGNOR curated interactions for B2M Gene

Drugs & Compounds for B2M Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxycycline Approved, Investigational, Vet_approved Pharma Target 243
3-Indolebutyric acid Experimental Pharma Target 0
N-Formylmethionine Experimental Pharma Target 0

(61) 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

Unigene Clusters for B2M Gene

Beta-2-microglobulin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for B2M

Flow Cytometry Products

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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
Organs:
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

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 34 35
  • 100 (n)
cow
(Bos Taurus)
Mammalia B2M 34 35
  • 80.23 (n)
dog
(Canis familiaris)
Mammalia B2M 34 35
  • 79.33 (n)
rat
(Rattus norvegicus)
Mammalia B2m 34
  • 73 (n)
mouse
(Mus musculus)
Mammalia B2m 34 16 35
  • 71.71 (n)
oppossum
(Monodelphis domestica)
Mammalia B2M 35
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 44 (a)
OneToMany
B2M 35
  • 26 (a)
OneToMany
chicken
(Gallus gallus)
Aves B2M 34 35
  • 55.33 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 47 (a)
OneToMany
-- 35
  • 39 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii b2ml 34 35
  • 55.78 (n)
b2m 35
  • 43 (a)
OneToMany
B2M (3 of 3) 35
  • 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

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

No data available for Paralogs for B2M Gene

Variants for B2M Gene

Sequence variations from dbSNP and Humsavar for B2M Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs104894481 Pathogenic, Immunodeficiency 43 (IMD43) [MIM:241600] 44,711,577(+) TGCTC(C/G/T)CGCTA upstream-variant-2KB, reference, missense
rs398122820 Pathogenic, Amyloidosis 8 (AMYL8) [MIM:105200] 44,715,641(+) AAAAA(A/G)ATGAG reference, missense
rs863225287 Pathogenic 44,711,614(+) CCAGC(G/T)TGAGT upstream-variant-2KB, splice-donor-variant
rs1000219847 -- 44,712,011(+) AGGCG(C/T)GGCGC intron-variant, upstream-variant-2KB
rs1000272307 -- 44,711,761(+) TCTCG(C/G)GGAAG intron-variant, upstream-variant-2KB

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)

Relevant External Links for B2M Gene

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

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

Disorders for B2M Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
hypoproteinemia, hypercatabolic
  • immunodeficiency 43
variant abeta2m amyloidosis
  • autosomal dominant beta2-microglobulinic amyloidosis
amyloidosis, familial visceral
  • amyloidosis, 3 or more types
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)

Relevant External Links for B2M

Genetic Association Database (GAD)
B2M
Human Genome Epidemiology (HuGE) Navigator
B2M
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
B2M
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 (I^2M) affecting antigen presentation function of macrophage. (PMID: 25356553) Sreejit G. … Mukhopadhyay S. (PLoS Pathog. 2014) 3 4 64
  2. Hereditary systemic amyloidosis due to Asp76Asn variant I^2-microglobulin. (PMID: 22693999) Valleix S. … Bellotti V. (N. Engl. J. Med. 2012) 3 4 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  4. Human beta-2 microglobulin W60V mutant structure: Implications for stability and amyloid aggregation. (PMID: 19284997) Ricagno S. … Bolognesi M. (Biochem. Biophys. Res. Commun. 2009) 3 4 64
  5. Identification of beta2-microglobulin as a potential target for ovarian cancer. (PMID: 19829086) Yang H.S. … Peng F. (Cancer Biol. Ther. 2009) 3 22 64

Products for B2M Gene

Sources for B2M Gene