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Aliases for B2M Gene

Aliases for B2M Gene

  • Beta-2-Microglobulin 2 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]

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 Transport to the Golgi and subsequent modification and Immune System. 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

Promoters for B2M Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around B2M on UCSC Golden Path with GeneCards custom track

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.

    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.
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
endoplasmic reticulum 5
endosome 5
extracellular 5
golgi apparatus 5
plasma membrane 5
cytosol 4
cytoskeleton 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:0009897 external side of plasma membrane IEA --
GO:0012507 ER to Golgi transport vesicle membrane TAS --
GO:1990712 HFE-transferrin receptor complex IDA 9990067
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

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:0002474 antigen processing and presentation of peptide antigen via MHC class I IEA,TAS --
GO:0002481 antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent IEA --
GO:0002726 positive regulation of T cell cytokine production IDA 24643698
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, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxycycline Approved, Investigational Pharma Target 219
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:

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
chimpanzee
(Pan troglodytes)
Mammalia B2M 35
  • 100 (n)
  • 100 (a)
B2M 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia B2M 36
  • 75 (a)
OneToOne
B2M 35
  • 80.23 (n)
  • 75.42 (a)
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
oppossum
(Monodelphis domestica)
Mammalia B2M 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 44 (a)
OneToMany
B2M 36
  • 26 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia B2m 35
  • 73 (n)
  • 75 (a)
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 b2m 36
  • 43 (a)
OneToMany
B2M (3 of 3) 36
  • 17 (a)
OneToMany
b2ml 36
  • 33 (a)
OneToMany
b2ml 35
  • 55.78 (n)
  • 48.98 (a)
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
VAR_030660 Immunodeficiency 43 (IMD43)
rs7151 -- 44,717,814(-) GCCCT(C/G)CTAGA utr-variant-3-prime
rs1690313 -- 44,713,462(+) TCCTC(C/G)TCTGA intron-variant
rs1901532 -- 44,718,254(+) AGAGT(A/T)TGGCT downstream-variant-500B
rs2254602 -- 44,716,236(+) AGCCT(C/T)ATTTC intron-variant, utr-variant-3-prime

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: 44.4% 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, GeneTests, 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
acute kidney failure
  • renal failure acute
amyloid tumor
  • amyloid neoplasm
- 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 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. {ECO:0000269 PubMed:7918443}.

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. 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 48 67
  2. 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) 3 25
  3. Identification of beta2-microglobulin as a potential target for ovarian cancer. (PMID: 19829086) Yang H.S. … Peng F. (Cancer Biol. Ther. 2009) 3 23
  4. Melanoma inhibiting activity protein (MIA), beta-2 microglobulin and lactate dehydrogenase (LDH) in metastatic melanoma. (PMID: 17348447) Cao M.G. … Puig S. (Anticancer Res. 2007) 3 23
  5. Beta-2-microglobulin level predicts outcome following autologous hematopoietic stem cell transplantation in patients with multiple myeloma. (PMID: 18022010) Stella-Holowiecka B. … Holowiecki J. (Transplant. Proc. 2007) 3 23

Products for B2M Gene

Sources for B2M Gene

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