Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segmen... See more...

Aliases for IGH Gene

Aliases for IGH Gene

  • Immunoglobulin Heavy Locus 2 3
  • Immunoglobulin Heavy Polypeptide, Joining Region 3
  • Immunglobulin Heavy Chain Variable Region 3
  • Immunoglobulin Heavy Diversity Cluster 3
  • Immunoglobulin Heavy Variable Cluster 3
  • D (Diversity) Region Of Heavy Chains 3
  • Immunoglobulin Heavy Diversity Group 3
  • Immunoglobulin Heavy Diversity Locus 3
  • Immunoglobulin Heavy Joining Cluster 3
  • Immunoglobulin Heavy Variable Group 3
  • J (Joining) Region Of Heavy Chains 3
  • Immunoglobulin Heavy Joining Group 3
  • Immunglobulin Heavy Chain 13
  • IGH.1@ 3
  • IGHDY1 3
  • IGHD@ 3
  • IGHJ@ 3
  • IGHV@ 3
  • IGD1 3
  • IGH@ 3
  • IGHJ 3
  • IGHV 3

External Ids for IGH Gene

Previous HGNC Symbols for IGH Gene

  • IGHDY1
  • IGH@

Previous GeneCards Identifiers for IGH Gene

  • GC14M106034
  • GC14M105584
  • GC14M105611
  • GC14M105752
  • GC14M105761
  • GC14M105776
  • GC14M105824
  • GC14M105629
  • GC14M105638
  • GC14M105660
  • GC14M105674
  • GC14M105680
  • GC14M105705
  • GC14M105726
  • GC14M105739
  • GC14M109514
  • GC14M109774

Summaries for IGH Gene

Entrez Gene Summary for IGH Gene

  • Immunoglobulins recognize foreign antigens and initiate immune responses such as phagocytosis and the complement system. Each immunoglobulin molecule consists of two identical heavy chains and two identical light chains. This region represents the germline organization of the heavy chain locus. The locus includes V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level joins a single D segment with a J segment; this partially rearranged D-J gene is then joined to a V segment. The rearranged V-D-J is then transcribed with the IGHM constant region; this transcript encodes a mu heavy chain. Later in development B cells generate V-D-J-Cmu-Cdelta pre-messenger RNA, which is alternatively spliced to encode either a mu or a delta heavy chain. Mature B cells in the lymph nodes undergo switch recombination, so that the V-D-J gene is brought in proximity to one of the IGHG, IGHA, or IGHE genes and each cell expresses either the gamma, alpha, or epsilon heavy chain. Recombination of many different V segments with several J segments provides a wide range of antigen recognition. Additional diversity is attained by junctional diversity, resulting from the random addition of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Due to polymorphism, the numbers of functional V, J, and D genes differ among individuals and some V, D, J, and C segments may be pseudogenes. [provided by RefSeq, Dec 2017]

GeneCards Summary for IGH Gene

IGH (Immunoglobulin Heavy Locus) is a Protein Coding gene. Diseases associated with IGH include Agammaglobulinemia 1, Autosomal Recessive and Follicular Lymphoma 1. Among its related pathways are Immune response Lectin induced complement pathway and Immune response NFAT in immune response.

Gene Wiki entry for IGH Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGH Gene

Genomics for IGH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IGH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

Genomic Locations for IGH Gene

Latest Assembly
chr14:105,586,437-106,879,844
(GRCh38/hg38)
Size:
1,293,408 bases
Orientation:
Minus strand

Previous Assembly
chr14:106,052,774-107,288,051
(GRCh37/hg19 by Entrez Gene)
Size:
1,235,278 bases
Orientation:
Minus strand

Genomic View for IGH Gene

Genes around IGH on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for IGH Gene

Proteins for IGH Gene

  • Protein details for IGH Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A2MZT1-A2MZT1_HUMAN
    Recommended name:
    Immunglobulin heavy chain
    Protein Accession:
    A2MZT1

    Protein attributes for IGH Gene

    Size:
    8 amino acids
    Molecular mass:
    943 Da
    Quaternary structure:
    No Data Available

neXtProt entry for IGH Gene

Post-translational modifications for IGH Gene

No Post-translational modifications

No data available for DME Specific Peptides for IGH Gene

Domains & Families for IGH Gene

Gene Families for IGH Gene

Suggested Antigen Peptide Sequences for IGH Gene

GenScript: Design optimal peptide antigens:
  • Immunglobulin heavy chain (A2MZT1_HUMAN)
  • Immunglobulin heavy chain (A2N192_HUMAN)
  • Cold agglutinin FS-1 H-chain (A2NB43_HUMAN)
  • Cold agglutinin FS-2 H-chain (A2NB44_HUMAN)
  • IGH@ protein (Q6GMX6_HUMAN)
genes like me logo Genes that share domains with IGH: view

No data available for Protein Domains , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGH Gene

Function for IGH Gene

Phenotypes From GWAS Catalog for IGH Gene

Human Phenotype Ontology for IGH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGH Gene

Localization for IGH Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for IGH Gene

Pathways & Interactions for IGH Gene

PathCards logo

SuperPathways for IGH Gene

SuperPathway Contained pathways
1 Immune response Fc epsilon RI pathway
.44
.44
2 Immune response Role of DAP12 receptors in NK cells
.32
3 Immune response Lectin induced complement pathway
.55
4 Development IGF-1 receptor signaling
.38
5 Immune response NFAT in immune response
.56
genes like me logo Genes that share pathways with IGH: view

Pathways by source for IGH Gene

7 GeneGo (Thomson Reuters) pathways for IGH Gene
  • Immune response BCR pathway
  • Immune response CD16 signaling in NK cells
  • Immune response Classical complement pathway
  • Immune response Fc epsilon RI pathway
  • Immune response IL-4 signaling pathway

Interacting Proteins for IGH Gene

Gene Ontology (GO) - Biological Process for IGH Gene

None

No data available for SIGNOR curated interactions for IGH Gene

Drugs & Compounds for IGH Gene

(4) Additional Compounds for IGH Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IGH: view

Transcripts for IGH Gene

mRNA/cDNA for IGH Gene

7 NCBI additional mRNA sequence :

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

No ASD Table

Relevant External Links for IGH Gene

GeneLoc Exon Structure for
IGH

Expression for IGH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IGH Gene

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

SOURCE GeneReport for Unigene cluster for IGH Gene:

Hs.699841
genes like me logo Genes that share expression patterns with IGH: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGH Gene

Orthologs for IGH Gene

No data available for Orthologs and Evolution for IGH Gene

Paralogs for IGH Gene

No data available for Paralogs for IGH Gene

Variants for IGH Gene

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGH
Leiden Open Variation Database (LOVD)
IGH

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , dbSNP identifiers (rs#s) for variants without ClinVar clinical significance , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IGH Gene

Disorders for IGH Gene

MalaCards: The human disease database

(13) MalaCards diseases for IGH Gene - From: CVR, ORP, and GCD

Disorder Aliases PubMed IDs
agammaglobulinemia 1, autosomal recessive
  • agm1
follicular lymphoma 1
  • follicular lymphoma, susceptibility to, 1
lymphoma, mucosa-associated lymphoid type
  • malt lymphoma
mantle cell lymphoma
  • lymphoma, mantle cell
leukemia, acute lymphoblastic 3
  • leukemia, acute lymphoblastic, susceptibility to, 3
- elite association - COSMIC cancer census association via MalaCards
Search IGH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IGH

genes like me logo Genes that share disorders with IGH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IGH Gene

Publications for IGH Gene

  1. Oral follicular lymphomas. A short report of 8 cases with assessment of the IGH/BCL2 gene fusion with fluorescence in situ hybridization. (PMID: 23953419) Argyris PP … Koutlas IG (Oral surgery, oral medicine, oral pathology and oral radiology 2013) 3 72
  2. Characterization of genetic lesions in apoptosis-regulating and proliferation control genes in diffuse large B-cell non-Hodgkin's lymphoma. (PMID: 20160358) Pervez S … Siddiqui T (Journal of cancer research and therapeutics 2009) 3 22
  3. T(3;14)(p14.1;q32) involving IGH and FOXP1 is a novel recurrent chromosomal aberration in MALT lymphoma. (PMID: 15703784) Streubel B … Chott A (Leukemia 2005) 3 72
  4. Molecular cytogenetic analysis of chromosomal breakpoints in the IGH, MYC, BCL6, and MALT1 gene loci in primary cutaneous B-cell lymphomas. (PMID: 15191563) Hallermann C … Neumann C (The Journal of investigative dermatology 2004) 3 22
  5. Presence of more than two rearranged immunoglobulin heavy-chain genes in adult precursor B-cell acute lymphoblastic leukemia. (PMID: 1554798) Schardt C … Ganser A (Annals of hematology 1992) 22 72

Products for IGH Gene

Sources for IGH Gene