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Aliases for IGHM Gene

Aliases for IGHM Gene

  • Immunoglobulin Heavy Constant Mu 2 3
  • Constant Region Of Heavy Chain Of IgM 3
  • Immunoglobulin Mu Chain 3
  • AGM1 3
  • VH 3
  • MU 3

External Ids for IGHM Gene

Previous GeneCards Identifiers for IGHM Gene

  • GC14U990041
  • GC14M104145
  • GC14M105248
  • GC14M105389
  • GC14M106318
  • GC14M086450

Summaries for IGHM Gene

Entrez Gene Summary for IGHM Gene

  • 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]

GeneCards Summary for IGHM Gene

IGHM (Immunoglobulin Heavy Constant Mu) is a Protein Coding gene. Diseases associated with IGHM include agammaglobulinemia 1 and immunodeficiency 23. Among its related pathways are Immune System and Downstream signaling events of B Cell Receptor (BCR). GO annotations related to this gene include single-stranded DNA binding and phosphatidylcholine binding. An important paralog of this gene is IGHG4.

UniProtKB/Swiss-Prot for IGHM Gene

  • IgM antibodies play an important role in primary defense mechanisms. They have been shown to be involved in early recognition of external invaders like bacteria and viruses, cellular waste and modified self, as well as in recognition and elimination of precancerous and cancerous lesions. The membrane-bound form is found in the majority of normal B-cells alongside with IgD. Membrane-bound IgM induces the phosphorylation of CD79A and CD79B by the Src family of protein tyrosine kinases. It may cause death of cells by apoptosis. It is also found in soluble form, which represents about 30% of the total serum immunoglobulins where it is found almost exclusively as a homopentamer. After the antigen binds to the B-cell receptor, the secreted form is secreted in large amounts.

Gene Wiki entry for IGHM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGHM Gene

Genomics for IGHM Gene

Genomic Location for IGHM Gene

Chromosome:
14
Start:
105,851,966 bp from pter
End:
106,235,572 bp from pter
Size:
383,607 bases
Orientation:
Minus strand

Genomic View for IGHM Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for IGHM Gene

No data available for Regulatory Elements for IGHM Gene

Proteins for IGHM Gene

  • Protein details for IGHM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01871-IGHM_HUMAN
    Recommended name:
    Ig mu chain C region
    Protein Accession:
    P01871
    Secondary Accessions:
    • P20769

    Protein attributes for IGHM Gene

    Size:
    452 amino acids
    Molecular mass:
    49307 Da
    Quaternary structure:
    • Immunoglobulin (Ig) molecules consist of two chains, one heavy chain (which can be alpha, delta, epsilon, gamma or mu) and one light chain (which can be kappa or lambda) each consisting of a variable and a constant region. An IgM molecule contains thus a mu heavy chain combined with either a kappa or a lambda light chains. It is found almost exclusively as a homopentamer in the serum. Membrane-bound IgM molecules are non-covalently associated with heterodimer of CD79A and CD79B
    SequenceCaution:
    • Sequence=CAA33071.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA34971.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IGHM Gene

    Alternative splice isoforms for IGHM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IGHM Gene

Proteomics data for IGHM Gene at MOPED

Post-translational modifications for IGHM Gene

  • Glycosylation at Asn 46, Asn 209, Asn 272, Asn 279, and Asn 439
  • Modification sites at PhosphoSitePlus

Other Protein References for IGHM Gene

No data available for DME Specific Peptides for IGHM Gene

Domains & Families for IGHM Gene

Gene Families for IGHM Gene

Protein Domains for IGHM Gene

Suggested Antigen Peptide Sequences for IGHM Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with IGHM: view

No data available for UniProtKB/Swiss-Prot for IGHM Gene

Function for IGHM Gene

Molecular function for IGHM Gene

GENATLAS Biochemistry:
immunoglobulin,mu
UniProtKB/Swiss-Prot Function:
IgM antibodies play an important role in primary defense mechanisms. They have been shown to be involved in early recognition of external invaders like bacteria and viruses, cellular waste and modified self, as well as in recognition and elimination of precancerous and cancerous lesions. The membrane-bound form is found in the majority of normal B-cells alongside with IgD. Membrane-bound IgM induces the phosphorylation of CD79A and CD79B by the Src family of protein tyrosine kinases. It may cause death of cells by apoptosis. It is also found in soluble form, which represents about 30% of the total serum immunoglobulins where it is found almost exclusively as a homopentamer. After the antigen binds to the B-cell receptor, the secreted form is secreted in large amounts.

Gene Ontology (GO) - Molecular Function for IGHM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003697 contributes_to single-stranded DNA binding IDA 21786026
GO:0003823 antigen binding IBA --
GO:0004888 transmembrane signaling receptor activity --
GO:0005515 protein binding IPI 19214191
GO:0031210 contributes_to phosphatidylcholine binding IDA 21786026
genes like me logo Genes that share ontologies with IGHM: view
genes like me logo Genes that share phenotypes with IGHM: view

Animal Models for IGHM Gene

MGI Knock Outs for IGHM:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for IGHM Gene

Localization for IGHM Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGHM Gene

Isoform 1: Secreted. Note=During differentiation, B-lymphocytes switch from expression of membrane-bound IgM to secretion of IgM.
Isoform 2: Cell membrane; Single-pass type I membrane protein.

Gene Ontology (GO) - Cellular Components for IGHM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 16502470
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA --
GO:0009986 cell surface IDA 22427638
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IGHM: view

No data available for Subcellular locations from COMPARTMENTS for IGHM Gene

Pathways & Interactions for IGHM Gene

genes like me logo Genes that share pathways with IGHM: view

Gene Ontology (GO) - Biological Process for IGHM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000187 activation of MAPK activity --
GO:0002250 adaptive immune response IDA 21786026
GO:0002455 humoral immune response mediated by circulating immunoglobulin --
GO:0006898 receptor-mediated endocytosis IBA --
GO:0006910 phagocytosis, recognition IBA --
genes like me logo Genes that share ontologies with IGHM: view

No data available for SIGNOR curated interactions for IGHM Gene

Drugs & Compounds for IGHM Gene

No Compound Related Data Available

Transcripts for IGHM Gene

Alternative Splicing Database (ASD) splice patterns (SP) for IGHM Gene

No ASD Table

Relevant External Links for IGHM Gene

GeneLoc Exon Structure for
IGHM
ECgene alternative splicing isoforms for
IGHM

Expression for IGHM Gene

mRNA expression in normal human tissues for IGHM Gene

mRNA differential expression in normal tissues according to GTEx for IGHM Gene

This gene is overexpressed in Spleen (x15.9) and Small Intestine - Terminal Ileum (x4.8).

Protein differential expression in normal tissues from HIPED for IGHM Gene

This gene is overexpressed in Synovial fluid (24.3), Pancreatic juice (11.7), and Nasal epithelium (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGHM Gene



genes like me logo Genes that share expression patterns with IGHM: view

Protein tissue co-expression partners for IGHM Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for IGHM Gene

Orthologs for IGHM Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGHM Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
Mammalia IGHM 36
  • 42 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ighm 36
  • 58 (a)
OneToOne
Ighm 16
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 51 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 36
  • 60 (a)
OneToMany
-- 36
  • 39 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia IGHM 36
  • 30 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ighv1-4 36
  • 17 (a)
OneToMany
Species with no ortholog for IGHM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IGHM Gene

ENSEMBL:
Gene Tree for IGHM (if available)
TreeFam:
Gene Tree for IGHM (if available)

Paralogs for IGHM Gene

Paralogs for IGHM Gene

genes like me logo Genes that share paralogs with IGHM: view

Variants for IGHM Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IGHM Gene

P01871-IGHM_HUMAN
All 4 combinations of the S/G and V/G polymorphisms at positions 191 and 215 have been observed in human mu chains

Sequence variations from dbSNP and Humsavar for IGHM Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
VAR_003903 -
VAR_003904 -

Relevant External Links for IGHM Gene

HapMap Linkage Disequilibrium report
IGHM
Human Gene Mutation Database (HGMD)
IGHM

No data available for Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGHM Gene

Disorders for IGHM Gene

MalaCards: The human disease database

(14) MalaCards diseases for IGHM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
agammaglobulinemia 1
  • agammaglobulinemia 1, autosomal recessive
immunodeficiency 23
  • immunodeficiency with hyper ige and cognitive impairment
mu chain disease
  • mu-chain disease
cold agglutinin disease
  • anemia, hemolytic, cold antibody
congenital hypogammaglobulinemia
  • congenital hypogammaglobulinaemia
- elite association
Search IGHM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IGHM_HUMAN
  • Agammaglobulinemia 1, autosomal recessive (AGM1) [MIM:601495]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269 PubMed:8890099}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for IGHM Gene

agammaglobulinemia,Bruton like

Relevant External Links for IGHM

Genetic Association Database (GAD)
IGHM
Human Genome Epidemiology (HuGE) Navigator
IGHM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGHM
genes like me logo Genes that share disorders with IGHM: view

Publications for IGHM Gene

  1. VH gene usage and CDR3 analysis of B cell receptor in the peripheral blood of patients with PBC. (PMID: 18176868) Foreman A.L. … Gougeon M.L. (Autoimmunity 2008) 23 67
  2. Hepatitis C virus (HCV)-driven stimulation of subfamily-restricted natural IgM antibodies in mixed cryoglobulinemia. (PMID: 18558364) Perotti M. … Mancini N. (Autoimmun Rev 2008) 23 67
  3. Strikingly homologous immunoglobulin gene rearrangements and poor outcome in VH3-21-using chronic lymphocytic leukemia patients independent of geographic origin and mutational status. (PMID: 16317103) ThorsAclius M. … Rosenquist R. (Blood 2006) 23 67
  4. Immunoglobulin heavy chain locus events and expression of activation-induced cytidine deaminase in epithelial breast cancer cell lines. (PMID: 16618718) Babbage G. … Sahota S.S. (Cancer Res. 2006) 23 67
  5. Immunoglobulin VH somatic hypermutation in mantle cell lymphoma: mutated genotype correlates with better clinical outcome. (PMID: 16980950) Lai R. … Ma Y. (Mod. Pathol. 2006) 23 67

Products for IGHM Gene

Sources for IGHM Gene

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