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B2M Gene

protein-coding   GIFtS: 70
GCID: GC15P045003

Beta-2-Microglobulin

  See B2M-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
beta-2-microglobulin1 2
Beta Chain Of MHC Class I Molecules2
beta-2-microglobin2

External Ids:    HGNC: 9141   Entrez Gene: 5672   Ensembl: ENSG000001667107   OMIM: 1097005   UniProtKB: P617693   
ORGUL members:         

Export aliases for B2M gene to outside databases

Previous GC identifers: GC15P040370 GC15P037899 GC15P042582 GC15P042719 GC15P042790 GC15P021827


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. A mutation in this gene has been shown
to result in hypercatabolic hypoproteinemia.(provided by RefSeq, Sep 2009)

GeneCards Summary for B2M Gene:
B2M (beta-2-microglobulin) is a protein-coding gene. Diseases associated with B2M include balkan nephropathy, and plasmacytoma. GO annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769
Function: 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 (Beta-2 microglobulin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NT_187605.1  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the B2M gene promoter:
         TBP   SRY   STAT1   GATA-6   ATF-2   STAT1beta   POU3F2   GATA-1   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): B2M promoter sequence
   Search Chromatin IP Primers for B2M

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat B2M


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21-q22.2   Ensembl cytogenetic band:  15q21.1   HGNC cytogenetic band: 15q21-q22.2

B2M Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
B2M gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P045003:  view genomic region     (about GC identifiers)

Start:
45,003,675 bp from pter      End:
45,011,075 bp from pter
Size:
7,401 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769 (See protein sequence)
Recommended Name: Beta-2-microglobulin precursor  
Size: 119 amino acids; 13715 Da
Subunit: 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
Selected PDB 3D structures from and Proteopedia for B2M (see all 436):
1A1M (3D)        1A1N (3D)        1A1O (3D)        1A6Z (3D)        1A9B (3D)        1A9E (3D)    
Secondary accessions: P01884 Q540F8 Q6IAT8 Q9UCK0 Q9UD48 Q9UDF4

Explore the universe of human proteins at neXtProt for B2M: NX_P61769

Explore proteomics data for B2M at MOPED

Post-translational modifications: 

  • Glycation of Ile-21 is observed in long-term hemodialysis patients1
  • Glycosylation2 at Ile21, Lys39, Lys61, Lys68, Lys78, Thr106, Lys111, Lys114
  • Modification sites at PhosphoSitePlus

  • See B2M Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004039.1  
    ENSEMBL proteins: 
     ENSP00000452780   ENSP00000453023   ENSP00000453191   ENSP00000453350   ENSP00000340858  
     ENSP00000452861   ENSP00000453186   ENSP00000437604  
    Reactome Protein details: P61769

    B2M Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Proteins for B2M
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    OriGene MassSpec for B2M
    OriGene Custom Protein Services for B2M
    GenScript Custom Purified and Recombinant Proteins Services for B2M
    Novus Biologicals B2M Proteins
    Novus Biologicals B2M Lysates
    Sino Biological Recombinant Protein for B2M
    Sino Biological Cell Lysate for B2M
    ProSpec Recombinant Protein for B2M
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for B2M 

    B2M Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of B2M
    R&D Systems Antibodies for B2M (beta 2-Microglobulin)
    Cell Signaling Technology (CST) Antibodies for B2M 
    OriGene Antibodies for B2M
    OriGene Custom Antibody Services for B2M
    Novus Biologicals B2M Antibodies
    Abcam antibodies for B2M
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for B2M
    LSBio Antibodies in human, mouse, rat for B2M

    B2M Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for B2M
    R&D Systems ELISAs for B2M (beta 2-Microglobulin)         (see all)
    GenScript Custom Assay Services for B2M
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for B2M 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    C1SET: Immunoglobulin superfamily / C1-set domain containing

    5 InterPro protein domains:
     IPR015707 B2Microglobulin
     IPR013783 Ig-like_fold
     IPR003597 Ig_C1-set
     IPR007110 Ig-like_dom
     IPR003006 Ig/MHC_CS

    Graphical View of Domain Structure for InterPro Entry P61769

    ProtoNet protein and cluster: P61769

    UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769
    Similarity: Belongs to the beta-2-microglobulin family
    Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domain


    Find genes that share domains with B2M           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: B2MG_HUMAN, P61769
    Function: Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide
    antigens to the immune system

         Genatlas biochemistry entry for B2M:
    microglobulin,beta-2 mutated in any tumoral cells (with loss of HLA class 1 antigen)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10638746
    GO:0042802identical protein binding IPI--
         
    Find genes that share ontologies with B2M           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for B2M:
     Decreased influenza A H1N1 (A/  Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r 

         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for B2m):
     cardiovascular system  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  nervous system  reproductive system  tumorigenesis 

    Find genes that share phenotypes with B2M           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for B2M: B2mtm1Jae B2mtm1Unc

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for B2M
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for B2M

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for B2M
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for B2M

    miRNA
    Products:
        
    miRTarBase miRNAs that target B2M:
    hsa-mir-93-5p (MIRT028088)

    Block miRNA regulation of human, mouse, rat B2M using miScript Target Protectors
    3 qRT-PCR Assays for microRNAs that regulate B2M:
    hsa-miR-513a-3p hsa-miR-1322 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidB2M 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for B2M
    Predesigned siRNA for gene silencing in human, mouse, rat B2M

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for B2M

    Clone
    Products:
         
    OriGene clones in human, mouse for B2M (see all 7)
    OriGene ORF clones in mouse, rat for B2M
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: B2M (NM_004048)
    Sino Biological Human cDNA Clone for B2M
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for B2M
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B2M
    Addgene plasmids for B2M 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for B2M 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for B2M

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-10611 VA4-13460 VA6-11782 VF4-13287) for B2M 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    B2MG_HUMAN, P61769: Secreted. Note=Detected in serum and urine
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol4
    endoplasmic reticulum4
    endosome4
    golgi apparatus4
    plasma membrane4
    cytoskeleton2
    nucleus2
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IDA--
    GO:0005737cytoplasm IDA--
    GO:0005788endoplasmic reticulum lumen TAS--

    Find genes that share ontologies with B2M           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for B2M About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1CDK-mediated phosphorylation and removal of Cdc6
    ER-Phagosome pathway0.80
    Immune response Antigen presentation by MHC class I0.68
    Antigen processing-Cross presentation0.80
    Endosomal/Vacuolar pathway0.00
    2Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters
    Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters0.76
    Nef mediated downregulation of MHC class I complex cell surface expression0.00
    The role of Nef in HIV-1 replication and disease pathogenesis0.76
    3Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    4Signaling by FGFR
    DAP12 signaling0.89
    DAP12 interactions0.89
    5Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41


    Find genes that share SuperPaths with B2M           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for B2M
        Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for B2M
        Immune response Antigen presentation by MHC class I

    3 BioSystems Pathways for B2M
        IL12-mediated signaling events
    TCR signaling in naive CD8+ T cells
    Downstream signaling in naive CD8+ T cells

    1 Sino Biological Pathway for B2M
        NF-kB (NFkB) Pathway

    Selected Reactome Pathways for B2M (see all 9)
        Endosomal/Vacuolar pathway
    Interferon gamma signaling
    Antigen Presentation: Folding, assembly and peptide loading of class I MHC
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    ER-Phagosome pathway


    1 Kegg Pathway  (Kegg details for B2M):
        Antigen processing and presentation

        Pathway & Disease-focused RT2 Profiler PCR Arrays including B2M (see all 149): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for B2M

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for B2M (P617691, 2, 3 ENSP000003408584) via UniProtKB, MINT, STRING, and/or I2D (see all 242)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HLA-BP304812, 3, ENSP000003991684MINT-24887 I2D: score=1 MINT-24786 I2D: score=1 MINT-25080 I2D: score=3 MINT-24861 I2D: score=1 MINT-24943 I2D: score=1 MINT-25057 I2D: score=4 I2D: score=1 STRING: ENSP00000399168
    HLA-AP137463, ENSP000003660054I2D: score=2 I2D: score=1 I2D: score=2 I2D: score=2 MINT-24957 I2D: score=3 MINT-24995 I2D: score=2 STRING: ENSP00000366005
    CD1BP290161, 2, 3, ENSP000003571504EBI-714718,EBI-1033762 MINT-24761 I2D: score=4 STRING: ENSP00000357150
    ENSG00000206450P306852, 3MINT-24887 I2D: score=1 MINT-24786 I2D: score=1 MINT-24943 I2D: score=1 
    BAG6P463792, 3MINT-63948 I2D: score=4 
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    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001895retina homeostasis IEP--
    GO:0001916positive regulation of T cell mediated cytotoxicity IEA--
    GO:0002237response to molecule of bacterial origin IEA--
    GO:0002474antigen processing and presentation of peptide antigen via MHC class I TAS--
    GO:0002479antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS--

    Find genes that share ontologies with B2M           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for B2M (B2MG)

    2 DrugBank Compounds for B2M    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3-Indolebutyric Acid-- 133-32-4target--10592235
    N-Formylmethionine-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for B2M gene (see all 128)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    neopterin 91.3 373 11246052 (7), 1976599 (6), 8517058 (6), 1582019 (6) (see all 99)
    beta2-microglobulin 83.7 10 12649720 (2), 18691256 (2), 17223968 (1), 11293823 (1) (see all 6)
    cuprophan 81.4 15 2264202 (3), 8465819 (2), 7973484 (1), 1992659 (1) (see all 10)
    actb 78.2 22 10378372 (3), 15720708 (3), 19656400 (1), 19544972 (1) (see all 16)
    creatinine 74.1 339 12738401 (7), 17519026 (5), 11248475 (4), 8848352 (3) (see all 99)
    polysulfone 71.9 20 8793795 (2), 1516991 (2), 8465821 (2), 17050637 (2) (see all 11)
    polyacrylonitrile 66.2 6 1516991 (2), 2174686 (2), 9347661 (1), 7832652 (1)
    an 69 58.9 4 8381935 (2), 2197235 (1)
    2',5'-oligoadenylate 58.7 35 2059368 (4), 8471593 (3), 7683894 (3), 1760815 (2) (see all 18)
    cadmium 56.2 73 1765861 (2), 18692183 (2), 9037804 (2), 17943303 (2) (see all 39)



    Find genes that share compounds with B2M           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for B2M gene: 
    NM_004048.2  

    Unigene Cluster for B2M:

    Beta-2-microglobulin
    Hs.534255  [show with all ESTs]
    Unigene Representative Sequence: AK022379
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558401(uc001zuc.3) ENST00000559720(uc010uek.1 uc010bdx.1)
    ENST00000561424 ENST00000559916 ENST00000349264 ENST00000557901 ENST00000559907
    ENST00000560681 ENST00000559220 ENST00000561139 ENST00000560556 ENST00000544417

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate B2M:
    hsa-miR-513a-3p hsa-miR-1322 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidB2M 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for B2M
    Predesigned siRNA for gene silencing in human, mouse, rat B2M
    Clone
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    OriGene clones in human, mouse for B2M (see all 7)
    OriGene ORF clones in mouse, rat for B2M
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: B2M (NM_004048)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for B2M
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat B2M
    Addgene plasmids for B2M 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for B2M
    OriGene qSTAR qPCR primer pairs in human, mouse for B2M
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat B2M
      QuantiTect SYBR Green Assays in human, mouse, rat B2M
      QuantiFast Probe-based Assays in human, mouse, rat B2M
    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-10611 VA4-13460 VA6-11782 VF4-13287) for B2M 

    Additional mRNA sequence: 

    AB021288.1 AF072097.1 AK022379.1 AK303560.1 AK315776.1 AY007153.1 AY187687.1 BC032589.1 
    BC064910.1 CR457066.1 DQ839493.1 DQ839494.1 DQ884406.1 S54761.1 S82297.1 V00567.1 

    Selected DOTS entries (see all 126):

    DT.91677800  DT.91869130  DT.100744815  DT.91784683  DT.100744805  DT.100744850  DT.100744823  DT.100744876 
    DT.100060553  DT.91945313  DT.87008425  DT.100060562  DT.100744810  DT.91784584  DT.98132007  DT.100744841 
    DT.91687294  DT.95255900  DT.320726  DT.95255887  DT.100689059  DT.91784806  DT.100744813  DT.121059468 

    Selected AceView cDNA sequences (see all 5611):

    BU664962 AV713806 BQ027164 CR591572 CA305922 AI222708 BQ416771 BM762386 
    AA491926 AA367282 AA937718 CA439211 CA867746 BM312292 BG681156 BM851697 
    BI753414 CA437282 BQ267709 AA643324 BU186581 CB123505 CR593761 BM996311 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for B2M    About this scheme

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


    ECgene alternative splicing isoforms for B2M

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    B2M expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTGTGGTTA
    B2M Expression
    About this image


    B2M expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 23) fully expand
     
     NULL (Cardiovascular System)    fully expand to see all 2 entries
             Early cardiomyocytes
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Early cardiomyocytes
     
     Liver (Hepatobiliary System)
             Hepatocyte-like cells
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Rockefeller university embryonic stem cell line 1
    B2M Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    B2M Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534255
        Pathway & Disease-focused RT2 Profiler PCR Arrays including B2M (see all 149): 
              Antiviral Response in human mouse rat
              Multiple Sclerosis in human mouse rat
              Wound Healing in human mouse rat
              Prostate Cancer in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for B2M gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia B2m1 , 5 beta-2 microglobulin1, 5 71.71(n)1
    68.07(a)1
      2 (60.55 cM)5
    120101  NM_009735.31  NP_033865.21 
     1221476865 
    chicken
    (Gallus gallus)
    Aves B2M1 beta-2-microglobulin 55.33(n)
    48(a)
      414830  XM_004943628.1  XP_004943685.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Beta-2-microglobulin
    47(a)
    39(a)
    many → 1
    many → 1
    GL343490.1(364590-366690)
    GL343490.1(413157-414489)
    zebrafish
    (Danio rerio)
    Actinopterygii b2ml1 beta-2-microglobulin, like 55.78(n)
    48.98(a)
      791742  NM_213126.1  NP_998291.1 


    ENSEMBL Gene Tree for B2M (if available)
    TreeFam Gene Tree for B2M (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for B2M gene
    Selected SIMAP similar genes for B2M using alignment to 6 protein entries:     B2MG_HUMAN (see all proteins) (see all similar genes):
    TCRBV11S1A1T    Tcr-alpha    beta 2-microglobulin    TRAC    TRBC2    TRBC1
    TRA@    TCRBV13S3    TCRBV12S2    TCRBV12S2A1T    TCRBV15S1    TCRBV13S2
    TCRBV13S2A1T    TCRBV13S9/13S2A1T    BV13S3J2.6    TCRBV12S3    TCRBV13S1    TCRBV13S6A2T

    Find genes that share paralogs with B2M           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for B2M (see all 194)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0306604
    Hypercatabolic hypoproteinemia (HYCATHYP)4--see VAR_0306602 A P mis40--------
    rs1048944811,2
    Cpathogenic125070436(+) TGCTCC/GCGCTA 2 P A mis10--------
    rs1479746071,2
    C--25068414(+) TGTCAC/TGTTTG 1 -- us2k10--------
    rs1418042331,2
    --25068476(+) AAATAG/TTTGTA 1 -- us2k10--------
    rs1820874411,2
    --25068550(+) GTATTC/TCCCCC 1 -- us2k10--------
    rs19015291,2
    C,A--25068561(+) CAAAGA/GAAACT 1 -- us2k14Minor allele frequency- G:0.09NA CSA WA 242
    rs172358221,2
    C--25068910(+) TAAATA/GATATT 1 -- us2k1 tfbs33Minor allele frequency- G:0.03NA 124
    rs1448973151,2
    --25068983(+) CTCTCC/TCTTGT 1 -- us2k10--------
    rs747730631,2
    C,F--25069032(+) ATTTTC/TTTAGT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1387423601,2
    --25069114(+) TTGTGC/TTCCTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for B2M (45003675 - 45011075 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for B2M:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832990CNV Gain17160897
    dgv744e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): B2M
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing B2M
    DNA2.0 Custom Variant and Variant Library Synthesis for B2M

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 109700   
    OMIM disorders: 241600  
    UniProtKB/Swiss-Prot: B2MG_HUMAN, P61769
  • Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600]: Affected individuals show marked reduction in
    serum concentrations of immunoglobulin and albumin, probably due to rapid degradation. 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

  • Selected diseases for B2M (see all 30):    
    About MalaCards
    balkan nephropathy    plasmacytoma    hypoproteinemia, hypercatabolic    autosomal dominant beta2-microglobulinic amyloidosis
    amyloid tumor    complication in hemodialysis    uremic neuropathy    peripheral nervous system disease
    extramedullary plasmacytoma    carpal tunnel syndrome    hemoglobinemia    chronic pyelonephritis
    mercury poisoning    macroglossia    oral candidiasis    acute kidney failure
    amyloidosis, secondary    aids dementia complex    arthropathy    hepatic coma

    15 diseases from the University of Copenhagen DISEASES database for B2M:
    Amyloidosis     Multiple myeloma     Carpal tunnel syndrome     Kidney failure
    Proteinuria     Acquired immunodeficiency syndrome     Lymphoma     Arthropathy
    Nephritis     Leukemia     Pyelonephritis     Diabetes mellitus
    Arthritis     Hypersensitivity reaction type II disease     Macroglobulinemia

    Find genes that share disorders with B2M           About GenesLikeMe

    Selected Novoseek inferred disease relationships for B2M gene (see all 98)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amyloidosis 86.5 235 8699608 (4), 2191408 (3), 16267605 (3), 18350445 (3) (see all 99)
    amyloid deposition 69.4 30 9839174 (4), 8742217 (2), 7675780 (2), 2067215 (1) (see all 21)
    myeloma 66.9 24 8701935 (1), 12705694 (1), 1954991 (1), 1638024 (1) (see all 22)
    carpal tunnel syndrome 66.4 15 7973484 (1), 9481434 (1), 7955417 (1), 10853552 (1) (see all 14)
    proteinuria 62.2 36 2122516 (2), 7554529 (2), 1582058 (2), 2181210 (1) (see all 29)
    hiv infections 62 42 1398802 (2), 18610664 (2), 2059368 (2), 8002043 (2) (see all 35)
    arthropathy, erosive 61.6 1 7753473 (1)
    albuminuria 60.9 8 2250610 (2), 9693499 (1), 10332434 (1), 8343614 (1) (see all 7)
    arthropathy 60.9 18 7653483 (2), 8314633 (1), 8302409 (1), 8024566 (1) (see all 15)
    aids-related complex 58.9 4 1976599 (1), 2127261 (1), 1774603 (1), 7546418 (1)

    Genatlas disease: B2M
    amyloidosis,hemodialysis-related (B2M deposit)

    Genetic Association Database (GAD): B2M
    Human Genome Epidemiology (HuGE) Navigator: B2M (10 documents)

    Export disorders for B2M gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for B2M gene, integrated from 10 sources (see all 1565):
    (articles sorted by number of sources associating them with B2M)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Amino acid sequence of a modified beta 2-microglobulin in renal failure patient urine and long-term dialysis patient blood. (PubMed id 7554280)1, 2, 9 Momoi T.... Saito A. (Clin. Chim. Acta 1995)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Human beta-2 microglobulin W60V mutant structure: Implications for stability and amyloid aggregation. (PubMed id 19284997)1, 2 Ricagno S.... Bolognesi M. (Biochem. Biophys. Res. Commun. 2009)
    4. Calbindin 1, fibroblast growth factor 20, and alpha-synuclein in sporadic Parkinson's disease. (PubMed id 18568448)1, 4 Mizuta I....Toda T. (Hum. Genet. 2008)
    5. Fine mapping of the MHC Class III region demonstrates association of AIF1 and rheumatoid arthritis. (PubMed id 18835879)1, 4 Harney S.M....Brown M.A. (Rheumatology (Oxford) 2008)
    6. Role of environmental and genetic factor interaction in age-related disease development: the gastric cancer paradigm. (PubMed id 18393655)1, 4 Forte G.I....Giammanco A. (Rejuvenation Res 2008)
    7. DE loop mutations affect beta2-microglobulin stability and amyloid aggregation. (PubMed id 18835253)1, 2 Ricagno S.... Bolognesi M. (Biochem. Biophys. Res. Commun. 2008)
    8. High-resolution crystal structure of beta2-microglobulin formed at pH 7.0. (PubMed id 17646174)1, 2 Iwata K.... Goto Y. (J. Biochem. 2007)
    9. Familial hypercatabolic hypoproteinemia caused by deficiency of the neonatal Fc receptor, FcRn, due to a mutant beta2-microglobulin gene. (PubMed id 16549777)1, 2 Wani M.A.... Anderson C.L. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    10. Conformation of amyloid fibrils of beta2-microglobulin probed by tryptophan mutagenesis. (PubMed id 16901902)1, 2 Kihara M.... Goto Y. (J. Biol. Chem. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 567 HGNC: 914 AceView: B2MandRNF36andLOC400368 Ensembl:ENSG00000166710 euGenes: HUgn567
    ECgene: B2M Kegg: 567 H-InvDB: B2M

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for B2M Pharmacogenomics, SNPs, Pathways
    Wikipedia http://en.wikipedia.org/wiki/Beta-2-microglobulin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for B2M gene:
    Search GeneIP for patents involving B2M

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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