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

    Gene ID: 3507, updated on 8-Jul-2021

    Summary

    Official Symbol
    IGHMprovided by HGNC
    Official Full Name
    immunoglobulin heavy constant muprovided by HGNC
    Primary source
    HGNC:HGNC:5541
    See related
    Ensembl:ENSG00000211899 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]
    Annotation information
    Annotation category: partial on reference assembly
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    Genomic context

    See IGHM in Genome Data Viewer
    Location:
    14q32.33
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (105851966..105856217, complement)
    105.20201022 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 ATP6V1G1P1-IGHD intergenic CAGE-defined B cell enhancer Neighboring gene microRNA 4539 Neighboring gene microRNA 4507 Neighboring gene microRNA 4538 Neighboring gene immunoglobulin heavy constant delta

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    enables antigen binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables antigen binding TAS
    Traceable Author Statement
    more info
    PubMed 
    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
    involved_in B cell receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in adaptive immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in antibacterial humoral response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in complement activation, classical pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in defense response to Gram-negative bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in innate immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in innate immune response IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in phagocytosis, engulfment IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in phagocytosis, recognition IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of B cell activation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

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    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 Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

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

    Reference GRCh38.p13 ALT_REF_LOCI_1

    Genomic

    1. NT_187600.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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