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

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; AllianceGenome:HGNC:5541
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

Location:: 14q32.33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (105851966..105856217, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (100123532..100127783, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (106318298..106322322, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association of IGHM polymorphisms with susceptibility to type 1 diabetes.
Title: Association of IGHM polymorphisms with susceptibility to type 1 diabetes.
Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis.
Title: Screening differentially expressed genes between endometriosis and ovarian cancer to find new biomarkers for endometriosis.
Refractory serum immunoglobulin M elevation during anti-interleukin (IL)-1- or IL-6-targeted treatment in four patients with Schnitzler syndrome.
Title: Refractory serum immunoglobulin M elevation during anti-interleukin (IL)-1- or IL-6-targeted treatment in four patients with Schnitzler syndrome.
Intrathecal Immunoglobulin M Synthesis is an Independent Biomarker for Higher Disease Activity and Severity in Multiple Sclerosis.
Title: Intrathecal Immunoglobulin M Synthesis is an Independent Biomarker for Higher Disease Activity and Severity in Multiple Sclerosis.
Agammaglobulinemia patient carries IGHM gene deletion and the novel nonsense mutation X57331.1:g.275C>A (p.Tyr43*).
Title: Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.
IGHM gene polymorphism is associated with type 1 diabetes.
Title: Immunoglobulin M gene association with autoantibody reactivity and type 1 diabetes.
Irrespective of subtype, Acute Lymphoblastic Leukemia with high levels of IGHM, IGLL1 and VPREB1 are arrested at the pre-B stage and correlate with good prognosis in high-risk pediatric B-cell precursor acute lymphoblastic leukemia.
Title: The Expression Pattern of the Pre-B Cell Receptor Components Correlates with Cellular Stage and Clinical Outcome in Acute Lymphoblastic Leukemia.
mutational analysis in cohort of Iranian patients with congenital agammaglobulinemia
Title: Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.
Rearrangement of the immunoglobulin mu-chain gene is associated with acute myeloid leukemia.
Title: Rearrangement and expression of the immunoglobulin μ-chain gene in human myeloid cells.
Serum immunoglobulin M anti-phosphorylcholine titers provide prognostic information for risk factors in acute coronary syndrome.
Title: IgM-phosphorylcholine autoantibodies and outcome in acute coronary syndromes.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive agammaglobulinemia 1 MedGen: C3152144 OMIM: 601495 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66790 (e-PCR)
- UniSTS:91160

PMC151015P1 (e-PCR)
- UniSTS:271132

D14S1342 (e-PCR)
- UniSTS:54568

BZ900741 (e-PCR)
- UniSTS:476760

RH69050 (e-PCR)
- UniSTS:85606

A010A33 (e-PCR)
- UniSTS:16020

RH71306 (e-PCR)
- UniSTS:3229

RH44825 (e-PCR)
- UniSTS:51616

PMC19472P3 (e-PCR)
- UniSTS:271777

PMC21601P1 (e-PCR)
- UniSTS:272062

RH70585 (e-PCR)
- UniSTS:91858

G19448 (e-PCR)
- UniSTS:33011

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
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
enables 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
involved_in B cell receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in adaptive immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in adaptive immune response	NAS Non-traceable Author Statement more info	PubMed
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
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
involved_in defense response to Gram-negative bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in pre-B cell allelic exclusion	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
part_of IgM B cell receptor complex	IDA Inferred from Direct Assay more info	PubMed
part_of IgM immunoglobulin complex	NAS Non-traceable Author Statement more info	PubMed
located_in blood microparticle	HDA more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	NAS Non-traceable Author Statement more info	PubMed
part_of hexameric IgM immunoglobulin complex	IDA Inferred from Direct Assay more info	PubMed
part_of immunoglobulin complex, circulating	IBA Inferred from Biological aspect of Ancestor more info
part_of pentameric IgM immunoglobulin complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

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.