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

Gene ID: 3507, updated on 1-Jun-2020

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

Genomic context

See IGHM in Genome Data Viewer
Location:
14q32.33
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 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
antigen binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
protein binding IPI
Inferred from Physical Interaction
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
PubMed 
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
PubMed 
defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
PubMed 
defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
leukocyte migration TAS
Traceable Author Statement
more info
 
phagocytosis, engulfment IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phagocytosis, recognition IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of B cell activation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
blood microparticle HDA 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
PubMed 
extracellular exosome HDA PubMed 
extracellular space HDA PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
hexameric IgM immunoglobulin complex IDA
Inferred from Direct Assay
more info
PubMed 
immunoglobulin complex, circulating IBA
Inferred from Biological aspect of Ancestor
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
 

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_001019.6 

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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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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