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-bindin... See more...

Aliases for IGHM Gene

Aliases for IGHM Gene

  • Immunoglobulin Heavy Constant Mu 2 3 4 5
  • Constant Region Of Heavy Chain Of IgM 3
  • Ig Mu Chain C Region BOT 4
  • 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
  • IGHM 5
  • MU 3
  • VH 3

External Ids for IGHM Gene

Previous GeneCards Identifiers for IGHM Gene

  • GC14U990041
  • GC14M104145
  • GC14M105248
  • GC14M105389
  • GC14M106318
  • GC14M086450
  • GC14M105852
  • GC14M105854
  • GC14M109531
  • GC14M109791

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, Autosomal Recessive and Agammaglobulinemia, Non-Bruton Type. Among its related pathways are Immune response Lectin induced complement pathway and Immune response NFAT in immune response. Gene Ontology (GO) annotations related to this gene include single-stranded DNA binding and phosphatidylcholine binding. An important paralog of this gene is IGHA2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for IGHM Gene

Genomics for IGHM Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGHM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J105854 Enhancer 0.6 ENCODE dbSUPER 250.7 +1.5 1467 0.2 POLR2A BHLHE40 ZSCAN29 IGHM lnc-BRF1-12 IGHD lnc-TMEM121-2 NONHSAG016150.2 COPDA1 lnc-BRF1-23
GH14J105856 Enhancer 0.4 ENCODE dbSUPER 250.7 +1.1 1087 0.2 POLR2A IGHM lnc-BRF1-12 IGHD lnc-TMEM121-2 NONHSAG016150.2 COPDA1 lnc-BRF1-23
GH14J105855 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 0.7 -4.1 -4083 9.8 BCLAF1 SP1 POLR2A BCL11A REST ZNF592 SIN3A TRIM22 NR2C1 ZNF217 MIR4537 TEX22 AY921576 IGHJ2 IGHJ2P IGHJ3 IGHJ3P IGHJ4 IGHJ5 IGHJ6
GH14J105853 Enhancer 0.8 ENCODE dbSUPER 0.7 +2.9 2894 0.2 ZNF207 POLR2A EBF1 TAF1 BHLHE40 MAX IKZF1 BACH1 GATA2 ZNF687 lnc-BRF1-12 IGHM IGHD lnc-TMEM121-2 NONHSAG016150.2 COPDA1 lnc-BRF1-23
GH14J105852 Enhancer 0.6 ENCODE dbSUPER 0.7 +3.4 3414 0.2 POLR2A IKZF1 MTA2 LARP7 GATAD2B MAZ lnc-BRF1-12 IGHM IGHD lnc-TMEM121-2 NONHSAG016150.2 COPDA1 lnc-BRF1-23
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGHM on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for IGHM Gene

Latest Assembly
chr14:105,851,705-105,856,218
(GRCh38/hg38)
Size:
4,514 bases
Orientation:
Minus strand

Previous Assembly
chr14:106,318,298-106,322,322
(GRCh37/hg19 by Entrez Gene)
Size:
4,025 bases
Orientation:
Minus strand

chr14:106,320,349-106,322,323
(GRCh37/hg19 by Ensembl)
Size:
1,975 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr14(ALT_REF_LOCI_1):319,735-323,986 (-)

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
    • P04220
    • 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA33069.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAA33071.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAA34971.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAE82013.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=CAE82014.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Asn46, Asn209, Asn272, Asn279, and Asn440
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • IGHM_HUMAN (280)

Other Protein References for IGHM Gene

Antibodies for research

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

InterPro:
Blocks:
  • Immunoglobulin C-type

Suggested Antigen Peptide Sequences for IGHM Gene

GenScript: Design optimal peptide antigens:
  • Immunoglobulin mu-chain D-J4-region (A2N7P4_HUMAN)
  • Ig mu chain C region (IGHM_HUMAN)
genes like me logo Genes that share domains with IGHM: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGHM Gene

Function for IGHM Gene

Molecular function for IGHM Gene

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).
GENATLAS Biochemistry:
immunoglobulin,mu

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 TAS 6425189
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

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 25645918
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IBA 21873635
GO:0009986 cell surface IDA 22427638
genes like me logo Genes that share ontologies with IGHM: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for IGHM Gene

Pathways & Interactions for IGHM Gene

PathCards logo

SuperPathways for IGHM Gene

SuperPathway Contained pathways
1 Immune response Fc epsilon RI pathway
.44
2 Immune response Lectin induced complement pathway
.55
3 Immune response NFAT in immune response
.56
4 Development Angiotensin activation of ERK
.40
genes like me logo Genes that share pathways with IGHM: view

Pathways by source for IGHM Gene

4 GeneGo (Thomson Reuters) pathways for IGHM Gene
  • Immune response BCR pathway
  • Immune response Classical complement pathway
  • Immune response NFAT in immune response
  • Signal transduction IP3 signaling

Gene Ontology (GO) - Biological Process for IGHM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response IEA,IDA 21786026
GO:0002376 immune system process IEA --
GO:0006910 phagocytosis, recognition IBA 21873635
GO:0006911 phagocytosis, engulfment IBA 21873635
GO:0006958 complement activation, classical pathway IBA 21873635
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

(3) Drugs for IGHM Gene - From: DrugBank and ApexBio

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0
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

Drug products for research

Transcripts for IGHM Gene

mRNA/cDNA for IGHM Gene

32 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

No ASD Table

Relevant External Links for IGHM Gene

GeneLoc Exon Structure for
IGHM

Expression for IGHM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

Primer products for research

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 -- 30
  • 60 (a)
OneToMany
-- 30
  • 39 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ighm 30
  • 58 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 53 (a)
OneToMany
-- 30
  • 51 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia IGHM 30
  • 42 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IGHM 30
  • 30 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii ighv1-4 30
  • 17 (a)
OneToMany
Species where no ortholog for IGHM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for IGHM: view image
Alliance of Genome Resources:
Additional Orthologs for IGHM

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

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

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGHM Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
973583 Likely Pathogenic: Autosomal recessive agammaglobulinemia 1 105,855,130(-) A/AG
NW_004166863.1:g.518299dup
rs10287 Benign: Autosomal recessive agammaglobulinemia 1 105,855,041(-) A/G
NC_000014.9:g.105855041A>G
rs113762053 Benign: Autosomal recessive agammaglobulinemia 1 105,855,988(-) G/C
NC_000014.8:g.106322093G>C
rs201981439 Benign: Autosomal recessive agammaglobulinemia 1 105,856,156(-) C/T
NC_000014.8:g.106322261C>T
rs267606871 Pathogenic: Autosomal recessive agammaglobulinemia 1 105,854,468(-) A/C
NC_000014.8:g.106320573A>C

Additional Variant Information for IGHM Gene

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

SNP Genotyping and Copy Number Assays for research

No data available for dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGHM Gene

Disorders for IGHM Gene

MalaCards: The human disease database

(8) MalaCards diseases for IGHM Gene - From: OMI, CVR, GTR, ORP, and GCD

Disorder Aliases PubMed IDs
agammaglobulinemia 1, autosomal recessive
  • agm1
agammaglobulinemia, non-bruton type
  • autosomal agammaglobulinemia
agammaglobulinemia
  • hypogammaglobulinemia
mu chain disease
  • mu-chain disease
primary central nervous system lymphoma
  • pcnsl
- 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 variants affecting the gene represented in this entry.

Genatlas disease for IGHM Gene

agammaglobulinemia,Bruton like

Additional Disease Information for IGHM

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 RM … Leder P (Nucleic acids research 1990) 2 3 4
  2. Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. (PMID: 18174230) Miyagawa H … Horiuchi T (Rheumatology (Oxford, England) 2008) 3 40
  3. Screening for N-glycosylated proteins by liquid chromatography mass spectrometry. (PMID: 14760718) Bunkenborg J … Wiśniewski JR (Proteomics 2004) 3 4
  4. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. (PMID: 8890099) Yel L … Conley ME (The New England journal of medicine 1996) 4 72
  5. 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 (The Journal of experimental medicine 1990) 3 22

Products for IGHM Gene

Sources for IGHM Gene