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Aliases for IGHM Gene

Aliases for IGHM Gene

  • Immunoglobulin Heavy Constant Mu 2 3 5
  • Constant Region Of Heavy Chain Of IgM 3
  • Ig Mu Chain C Region GAL 4
  • Immunoglobulin Mu Chain 3
  • Ig Mu Chain C Region OU 4
  • Ig Mu Chain C Region 4
  • AGM1 3
  • MU 3
  • VH 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 Agammaglobulinemia, Non-Bruton Type. Among its related pathways are Development Angiotensin activation of ERK and Immune response Lectin induced complement pathway. GO annotations related to this gene include single-stranded DNA binding and phosphatidylcholine binding. An important paralog of this gene is IGHG1.

UniProtKB/Swiss-Prot for IGHM Gene

  • Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). 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 (PubMed:3137579, PubMed:16895553).

Gene Wiki entry for IGHM Gene

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

Genomics for IGHM Gene

Regulatory Elements for IGHM Gene

Enhancers for IGHM Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14G105857 0.9 ENCODE dbSUPER 0.7 +0.2 188 0.2 PKNOX1 MXI1 BHLHE40 MNT RAD51 POLR2A IKZF1 RELB IKZF2 IGHM IGHD
GH14G105860 0.9 ENCODE dbSUPER 0.7 +2.9 2895 0.2 ZNF687 RFX1 MTA2 BHLHE40 BACH1 MAX GATAD2B GATA3 POLR2A IKZF1 IGHM IGHD
GH14G105852 0.8 ENCODE dbSUPER 0.7 +3.4 3415 0.2 CTCF MTA2 POLR2A IKZF1 ZNF143 TRIM22 GATAD2B IGHM IGHD
GH14G105855 0.8 ENCODE dbSUPER 0.7 +0.6 588 0.2 MXI1 POLR2A WRNIP1 BACH1 CHD1 CHD2 IGHM IGHD
GH14G105854 0.8 ENCODE dbSUPER 0.7 +1.5 1468 0.2 POLR2A BHLHE40 ZSCAN29 EBF1 IGHM IGHD
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IGHM on UCSC Golden Path with GeneCards custom track

Genomic Location for IGHM Gene

Chromosome:
14
Start:
105,851,708 bp from pter
End:
105,856,218 bp from pter
Size:
4,511 bases
Orientation:
Minus strand

Genomic View for IGHM Gene

Genes around IGHM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGHM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGHM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGHM Gene

Proteins for IGHM Gene

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

    Protein Symbol:
    P01871-IGHM_HUMAN
    Recommended name:
    Immunoglobulin heavy constant mu
    Protein Accession:
    P01871
    Secondary Accessions:
    • A0A075B6N9
    • A0A0G2JQL4
    • P20769

    Protein attributes for IGHM Gene

    Size:
    453 amino acids
    Molecular mass:
    49440 Da
    Quaternary structure:
    • Immunoglobulins are composed of two identical heavy chains and two identical light chains; disulfide-linked.
    SequenceCaution:
    • Sequence=CAA33065.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA33069.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAA33071.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA34971.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAE82013.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAE82014.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

Post-translational modifications for IGHM Gene

  • Glycosylation at posLast=4646, isoforms=2209, posLast=272272, isoforms=2279, and isoforms=439
  • Modification sites at PhosphoSitePlus

Other Protein References for IGHM Gene

ENSEMBL proteins:

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:
Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins serve as receptors which, upon binding of a specific antigen, trigger the clonal expansion and differentiation of B lymphocytes into immunoglobulins-secreting plasma cells. Secreted immunoglobulins mediate the effector phase of humoral immunity, which results in the elimination of bound antigens (PubMed:22158414, PubMed:20176268). The antigen binding site is formed by the variable domain of one heavy chain, together with that of its associated light chain. Thus, each immunoglobulin has two antigen binding sites with remarkable affinity for a particular antigen. The variable domains are assembled by a process called V-(D)-J rearrangement and can then be subjected to somatic hypermutations which, after exposure to antigen and selection, allow affinity maturation for a particular antigen (PubMed:17576170, PubMed:20176268). 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 (PubMed:3137579, PubMed:16895553).

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:0005515 protein binding IPI 19214191
GO:0031210 contributes_to phosphatidylcholine binding IDA 21786026
GO:0034987 contributes_to immunoglobulin receptor binding IDA 23250751
genes like me logo Genes that share ontologies with IGHM: view

Human Phenotype Ontology for IGHM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , 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:0002250 adaptive immune response IDA 21786026
GO:0006910 phagocytosis, recognition IBA --
GO:0006911 phagocytosis, engulfment IBA --
GO:0006958 complement activation, classical pathway IBA --
GO:0019731 antibacterial humoral response IDA 21786026
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

(1) Drugs for IGHM Gene - From: ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Immunoglobulin M heavy chain (IGHM) fragment [Homo sapiens] Pharma Immunoglobulin M heavy chain 0

(1) ApexBio Compounds for IGHM Gene

Compound Action Cas Number
Immunoglobulin M heavy chain (IGHM) fragment [Homo sapiens] Immunoglobulin M heavy chain
genes like me logo Genes that share compounds with IGHM: view

Transcripts for IGHM Gene

mRNA/cDNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for IGHM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IGHM Gene:

IGHM

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGHM Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • outer ear
  • sinus
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with IGHM: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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
cow
(Bos Taurus)
Mammalia -- 35
  • 60 (a)
OneToMany
-- 35
  • 39 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ighm 35
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 53 (a)
OneToMany
-- 35
  • 51 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia IGHM 35
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGHM 35
  • 30 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ighv1-4 35
  • 17 (a)
OneToMany
Species where no ortholog for IGHM was found in the sources mined by GeneCards:
  • 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

Variants for IGHM Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for IGHM Gene

IGHM_HUMAN-P01871
There are several alleles. The sequence shown is that of IMGT allele IGHM*04.

Sequence variations from dbSNP and Humsavar for IGHM Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs12365 --
VAR_003903 --
VAR_077893 --
VAR_077895 --

Relevant External Links for IGHM Gene

Human Gene Mutation Database (HGMD)
IGHM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(11) MalaCards diseases for IGHM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
agammaglobulinemia 1
  • agammaglobulinemia 1, autosomal recessive
agammaglobulinemia, non-bruton type
  • autosomal agammaglobulinemia
mu chain disease
  • mu-chain disease
primary central nervous system lymphoma
  • pcnsl
cold agglutinin disease
  • anemia, hemolytic, cold antibody
- elite association - COSMIC cancer census association via MalaCards
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. Complete nucleotide sequence of the membrane form of the human IgM heavy chain. (PMID: 2115996) Friedlander R.M. … Leder P. (Nucleic Acids Res. 1990) 2 3 4 64
  2. Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. (PMID: 18174230) Miyagawa H. … Horiuchi T. (Rheumatology (Oxford) 2008) 3 46 64
  3. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PMID: 14760718) Bunkenborg J. … Wisniewski J.R. (Proteomics 2004) 3 4 64
  4. The products of pre-B cell-specific genes (lambda 5 and VpreB) and the immunoglobulin mu chain form a complex that is transported onto the cell surface. (PMID: 2117639) Tsubata T. … Reth M. (J. Exp. Med. 1990) 3 22 64
  5. The complete nucleotide sequence of a human immunoglobulin genomic C mu gene. (PMID: 2505237) Dorai H. … Gillies S.D. (Nucleic Acids Res. 1989) 3 4 64

Products for IGHM Gene

Sources for IGHM Gene

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