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Aliases for B2M Gene

Aliases for B2M Gene

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

GeneCards Summary for B2M Gene

B2M (Beta-2-Microglobulin) is a Protein Coding gene. Diseases associated with B2M include variant abeta2m amyloidosis and hypoproteinemia, hypercatabolic. Among its related pathways are Immune System and Infectious disease. 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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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.

    Three dimensional structures from OCA and Proteopedia for B2M Gene

neXtProt entry for B2M Gene

Proteomics data for B2M Gene at MOPED

Post-translational modifications for B2M Gene

  • Glycation of Ile-21 is observed in long-term hemodialysis patients
  • Glycosylation at Ile 21, Lys 39, Lys 61, Lys 68, Lys 78, Thr 106, Lys 111, and Lys 114
  • Modification sites at PhosphoSitePlus

Other Protein References for B2M Gene

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 :
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Belongs to the beta-2-microglobulin family.
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
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

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

Animal Models for B2M Gene

MGI Knock Outs for B2M:

Animal Model Products

  • Taconic Biosciences Mouse Models for B2M B2m-NOG

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for B2M

In Situ Assay Products

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. Note=Detected in serum and urine.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for B2M Gene COMPARTMENTS Subcellular localization image for B2M gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 4
endosome 4
golgi apparatus 4
plasma membrane 4
cytoskeleton 2
cytosol 2
lysosome 2
nucleus 2
vacuole 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 --
GO:0005615 extracellular space IDA 16502470
GO:0005737 cytoplasm IDA --
GO:0005788 endoplasmic reticulum lumen TAS --
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

Pathways by source for B2M Gene

1 Sino Biological pathway for B2M Gene
1 Cell Signaling Technology pathway for B2M Gene
1 KEGG pathway for B2M Gene
1 GeneGo (Thomson Reuters) pathway for B2M Gene

PCR Array Products

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 --
GO:0002474 antigen processing and presentation of peptide antigen via MHC class I TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent 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: NovoSeek, HMDB, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxycycline Approved, Investigational Pharma Target 204
Acetaminophen Approved Pharma 799
Aluminium Approved Pharma 0
Amikacin Approved Pharma 52
Calcium carbonate Approved Pharma 185

(61) Additional Compounds for B2M Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2,5-Oligoadenylate
25-hydroxyvitamin d
2-Chlorodeoxyadenosine
51-Cr-EDTA
6-ketoprostaglandin f1alpha
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat 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 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



SOURCE GeneReport for Unigene cluster for B2M Gene Hs.534255

genes like me logo Genes that share expression patterns with B2M: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia B2M 35
  • 80.23 (n)
  • 75.42 (a)
B2M 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia B2M 35
  • 79.33 (n)
  • 76 (a)
B2M 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia B2m 35
  • 71.71 (n)
  • 68.07 (a)
B2m 16
B2m 36
  • 68 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia B2M 35
  • 100 (n)
  • 100 (a)
B2M 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia B2m 35
  • 73 (n)
  • 75 (a)
oppossum
(Monodelphis domestica)
Mammalia B2M 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
OneToMany
B2M 36
  • 26 (a)
OneToMany
chicken
(Gallus gallus)
Aves B2M 35
  • 55.33 (n)
  • 48 (a)
B2M 36
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 47 (a)
OneToMany
-- 36
  • 39 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii b2ml 35
  • 55.78 (n)
  • 48.98 (a)
b2m 36
  • 43 (a)
OneToMany
B2M (3 of 3) 36
  • 17 (a)
OneToMany
b2ml 36
  • 33 (a)
OneToMany
Species with no ortholog for B2M:
  • 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 MAF
rs3042006 -- 44,717,324(+) CATAG(-/AA)AAGTT intron-variant
rs147708131 untested 44,716,337(+) GAGAC(A/T)TGTAA reference, missense, downstream-variant-500B
rs398122820 Pathogenic 44,715,641(+) AAAAA(A/G)ATGAG missense, reference
VAR_030660 Hypercatabolic hypoproteinemia (HYCATHYP)

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

Variant ID Type Subtype PubMed ID
dgv744e1 CNV Complex 17122850
nsv832990 CNV Gain 17160897

Variation tolerance for B2M Gene

Residual Variation Intolerance Score: 44.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for B2M Gene

HapMap Linkage Disequilibrium report
B2M
Human Gene Mutation Database (HGMD)
B2M

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

Disorders for B2M Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
variant abeta2m amyloidosis
  • autosomal dominant beta2-microglobulinic amyloidosis
hypoproteinemia, hypercatabolic
  • hypercatabolic hypoproteinemia
complication in hemodialysis
mercury poisoning
  • mercury toxicity
amyloid tumor
  • amyloid neoplasm
- elite association
Search B2M in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

B2MG_HUMAN
  • Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600]: Affected individuals show marked reduction in serum concentrations of immunoglobulin and albumin, probably due to rapid degradation. {ECO:0000269 PubMed:16549777}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Beta-2-microglobulin may adopt the fibrillar configuration of amyloid in certain pathologic states. The capacity to assemble into amyloid fibrils is concentration dependent. Persistently high beta(2)-microglobulin serum levels lead to amyloidosis in patients on long-term hemodialysis.

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. Effect of tetracyclines on the dynamics of formation and destructuration of beta2-microglobulin amyloid fibrils. (PMID: 21068391) Giorgetti S. … Stoppini M. (J. Biol. Chem. 2011) 25 67
  2. Fludarabine, cyclophosphamide, mitoxantrone plus rituximab (FCM-R) in frontline CLL <70 Years. (PMID: 19646755) Faderl S. … Keating M.J. (Leuk. Res. 2010) 23 67
  3. Poly(adenylic acid) complementary DNA real-time polymerase chain reaction in pancreatic ductal juice in patients undergoing pancreaticoduodenectomy. (PMID: 19940796) Oliveira-Cunha M. … Siriwardena A.K. (Pancreas 2010) 23 67
  4. Prognostic factors in follicular lymphoma: the importance of beta-2 microglobulin. (PMID: 20437868) CA!novas A. … Aguirre C. (Tumori 2010) 23 67
  5. Identification of endogenous control genes for normalisation of real-time quantitative PCR data in colorectal cancer. (PMID: 20122155) Kheirelseid E.A. … Miller N. (BMC Mol. Biol. 2010) 23 67

Products for B2M Gene

Sources for B2M Gene

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