My NCBISign In

Display Settings:

Format

Send to:

Choose Destination

    IGHM immunoglobulin heavy constant mu [ Homo sapiens ]

    Gene ID: 3507, updated on 11-May-2012
    Help top of page

    Summary

    Official Symbol
    IGHMprovided by HGNC
    Official Full Name
    immunoglobulin heavy constant muprovided by HGNC
    Primary source
    HGNC:5541
    See related
    IMGT/GENE-DB:IGHM; MIM:147020
    Gene type
    other
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MU; VH; AGM1; FLJ00385; MGC52291; MGC104996; DKFZp686I15196; DKFZp686I15212
    Summary
    Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains and 2 identical light chains (see MIM 147200) joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. Each Ig heavy chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by an individual C region gene, that determines the isotype of the antibody and provides effector or signaling functions. The heavy chain V region is encoded by 1 each of 3 types of genes: V genes (see MIM 147070), joining (J) genes (see MIM 147010), and diversity (D) genes (see MIM 146910). The C region genes are clustered downstream of the V region genes within the heavy chain locus on chromosome 14. The IGHM gene encodes the C region of the mu heavy chain, which defines the IgM isotype. Naive B cells express the transmembrane forms of IgM and IgD (see IGHD; MIM 1471770) on their surface. During an antibody response, activated B cells can switch to the expression of individual downstream heavy chain C region genes by a process of somatic recombination known as isotype switching. In addition, secreted Ig forms that act as antibodies can be produced by alternative RNA processing of the heavy chain C region sequences. Although the membrane forms of all Ig isotypes are monomeric, secreted IgM forms pentamers, and occasionally hexamers, in plasma (summary by Janeway et al., 2005).[supplied by OMIM, Aug 2010]
    Help top of page

    Genomic context

    Location :
    14q32.33
    Sequence :
    Chromosome: 14; NC_000014.8 (106318037..106322322, complement)
    See IGHM in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene immunoglobulin heavy locus Neighboring gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1 Neighboring gene uncharacterized LOC100288273 Neighboring gene microRNA 4507 Neighboring gene immunoglobulin heavy constant delta Neighboring gene immunoglobulin heavy joining 6

    Help top of page

    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
    Helptop of page

    Bibliography

    Related articles in PubMed

    1. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    2. Defining the human deubiquitinating enzyme interaction landscape. Sowa ME, et al. Cell, 2009 Jul 23. PMID 19615732.
    3. S(mu) mutation patterns suggest different progression pathways in follicular lymphoma: early direct or late from FL progenitor cells. Ruminy P, et al. Blood, 2008 Sep 1. PMID 18515657.
    4. SEL1L and HRD1 are involved in the degradation of unassembled secretory Ig-mu chains. Cattaneo M, et al. J Cell Physiol, 2008 Jun. PMID 18314878.
    5. Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. Miyagawa H, et al. Rheumatology (Oxford), 2008 Feb. PMID 18174230.

    See all (32) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. tracked the clonal history of tumor cells by studying mutations on the switch mu region of the der(14)t(14;18) during the early phase of the class-switch recombination
      Title: S(mu) mutation patterns suggest different progression pathways in follicular lymphoma: early direct or late from FL progenitor cells.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus.
    3. lower levels of B-cell receptor surface expression observed in chronic lymphocytic leukemia are accounted for by an impaired glycosylation and folding of the mu and CD79a chains.
      Title: Lower levels of surface B-cell-receptor expression in chronic lymphocytic leukemia are associated with glycosylation and folding defects of the mu and CD79a chains.
    4. Intraclonal homogeneity of clonotypic immunoglobulin M and diversity of nonclinical post-switch isotypes in multiple myeloma: insights into the evolution of the myeloma clone
      Title: Intraclonal homogeneity of clonotypic immunoglobulin M and diversity of nonclinical post-switch isotypes in multiple myeloma: insights into the evolution of the myeloma clone.
    Submit: New GeneRIF Correction
    Help top of page

    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Agammaglobulinemia 1

    Help top of page

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P01871 P20273 CD22    HPRD  PubMed  
    P01871 P11912 CD79A    HPRD  PubMed  
    P01871 Q9P209 CEP72    HPRD  PubMed  
    P01871 P00739 HPR    HPRD  PubMed  
    P01871 P11021 HSPA5    HPRD  PubMed  
    P01871 P01591 IGJ    HPRD  PubMed  
    P01871 Q05397 PTK2    HPRD  PubMed  
    P01871 Q9NRR5 UBQLN4    HPRD  PubMed  
    P01871 P12018 VPREB1    HPRD  PubMed  
    P01871 Q9UKI3 VPREB3    HPRD  PubMed  
    BioGRID:109727 BioGRID:114457 BTRC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:109727 BioGRID:120844 CEP72    BioGRID  PubMed Two-hybrid 
    BioGRID:109727 BioGRID:108014 GADD45A    BioGRID  PubMed Two-hybrid 
    BioGRID:109727 BioGRID:109187 GSK3B    BioGRID  PubMed Two-hybrid 
    BioGRID:109727 BioGRID:113617 MAPKAPK3    BioGRID  PubMed Two-hybrid 
    BioGRID:109727 BioGRID:112300 SEL1L    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109727 BioGRID:112353 SH3GL2    BioGRID  PubMed Two-hybrid 
    BioGRID:109727 BioGRID:112490 SMN1    BioGRID  PubMed Two-hybrid 
    BioGRID:109727 BioGRID:124085 SYVN1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:109727 BioGRID:112938 TK1    BioGRID  PubMed Two-hybrid 
    BioGRID:109727 BioGRID:113200 UFD1L    BioGRID  PubMed Two-hybrid 
    BioGRID:109727 BioGRID:119725 ZAK    BioGRID  PubMed Two-hybrid 
    Help top of page

    General gene information

    Markers

    Genotypes

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Antigen Activates B Cell Receptor Leading to Generation of Second Messengers, organism-specific biosystem (from REACTOME)
      Antigen Activates B Cell Receptor Leading to Generation of Second Messengers, organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, Fu et al. 1975, Kunkel e...
    • B Cell Receptor Signaling Pathway, organism-specific biosystem (from WikiPathways)
      B Cell Receptor Signaling Pathway, organism-specific biosystemThe B cell receptor includes membrane ?? heavy chain molecules bound to a light chain and an Ig alpha (CD79A)/Ig beta (CD79B) heterodimer. Activation of the B cell receptor involves phosphorylation o...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Signaling by the B Cell Receptor (BCR), organism-specific biosystem (from REACTOME)
      Signaling by the B Cell Receptor (BCR), organism-specific biosystemMature B cells express IgM and IgD immunoglobulins which are complexed at the plasma membrane with Ig-alpha (CD79A, MB-1) and Ig-beta (CD79B, B29) to form the B cell receptor (BCR) (Fu et al. 1974, F...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    antigen binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    immune response NAS
    Non-traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    membrane fraction NAS
    Non-traceable Author Statement
    more info
    		  
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    Help top of page

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_001019.5 Reference

      Range
      967219..971504
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      106318037..106322322, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      86450807..86455319, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Help top of page

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB035268.1 BAA87067.1
    genomic AL122127.6 (121732..126018) None
    genomic J00260.1 AAB59422.1
    genomic K01310.1 AAB59422.1
    genomic X14939.1 CAA33065.1
    genomic X14940.1 None
    genomic X57331.1 (144..4393) None
    mRNA AK090464.1 BAC03445.1
    mRNA AK092976.1 None
    mRNA AK097859.1 BAC05186.1
    mRNA AK097950.1 BAC05203.1
    mRNA AK129622.1 BAC85199.1
    mRNA AK129637.1 BAC85202.1
    mRNA AK130539.1 BAC85373.1
    mRNA AK130577.1 BAC85385.1
    mRNA AY570731.1 AAS88328.1
    mRNA BC001872.1 None
    mRNA BC002963.1 None
    mRNA BC006180.1 None
    mRNA BC009851.2 None
    mRNA BC011857.2 None
    mRNA BC015760.1 None
    mRNA BC016381.1 None
    mRNA BC017356.2 None
    mRNA BC019235.2 None
    mRNA BC020240.1 None
    mRNA BC041037.1 None
    mRNA BC073758.1 None
    mRNA BC073767.1 None
    mRNA BC089412.1 None
    mRNA BX161420.1 CAD61894.1
    mRNA BX248278.1 CAD62606.1
    mRNA BX640620.1 CAE45774.1
    mRNA BX640724.1 CAE45841.1
    mRNA J00258.1 AAA53509.1
    mRNA X17115.1 CAA34971.1
    mRNA X58529.1 None
    mRNA X67292.1 CAA47708.1
    mRNA X67301.1 CAA47714.1
    mRNA Y14737.1 CAA75032.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P01871.3 GenPept UniProtKB/Swiss-Prot:P01871
    Q6N030 GenPept UniProtKB/TrEMBL:Q6N030
    Q6N096 GenPept UniProtKB/TrEMBL:Q6N096
    Q6PYX1 GenPept UniProtKB/TrEMBL:Q6PYX1
    Q86TT1 GenPept UniProtKB/TrEMBL:Q86TT1
    Q86TT2 GenPept UniProtKB/TrEMBL:Q86TT2
    Q8NF17 GenPept UniProtKB/TrEMBL:Q8NF17
    Q9ULB6 GenPept UniProtKB/TrEMBL:Q9ULB6
    Help top of page

    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Miscellaneous

      Supplemental Content

      Table of contents

      Links

      Links to other resources

      General information

      Related sites

      Feedback

      Subscription

      Recent activity

      Clear Turn Off Turn On

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...