Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    IGHM immunoglobulin heavy constant mu [ Homo sapiens (human) ]

    Gene ID: 3507, updated on 22-Sep-2016
    Official Symbol
    IGHMprovided by HGNC
    Official Full Name
    immunoglobulin heavy constant muprovided by HGNC
    Primary source
    HGNC: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
    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]
    Location:
    14q32.33
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (105851966..105856217, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (106318298..106322322, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene immunoglobulin heavy locus Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 1 Neighboring gene microRNA 4539 Neighboring gene microRNA 4507 Neighboring gene microRNA 4538 Neighboring gene immunoglobulin heavy constant delta

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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 (BCR) leading to generation of second messengers, organism-specific biosystem (from REACTOME)
      Antigen activates B Cell Receptor (BCR) 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...
    • CD22 mediated BCR regulation, organism-specific biosystem (from REACTOME)
      CD22 mediated BCR regulation, organism-specific biosystemBCR activation is highly regulated and coreceptors like CD22 (SIGLEC2) set a signalling threshold to prevent aberrant immune response and autoimmune disease (Cyster et al. 1997, Han et al. 2005). CD2...
    • 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...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Other Names

    • constant region of heavy chain of IgM
    • immunoglobulin mu chain

    Clone Names

    • FLJ00385, MGC52291, MGC104996, DKFZp686I15196, DKFZp686I15212

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    antigen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    contributes_to immunoglobulin receptor binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to peptidoglycan binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to phosphatidylcholine binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    contributes_to single-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    B cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    adaptive immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    antibacterial humoral response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    complement activation, classical pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phagocytosis, engulfment IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    phagocytosis, recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    positive regulation of B cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    blood microparticle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    external side of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    hexameric IgM immunoglobulin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    pentameric IgM immunoglobulin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    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_001019.6 

      Range
      1024128..1028640
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      105851966..105856217 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187600.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      319735..323986 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      106188922..106193173 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center