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    IGH@ immunoglobulin heavy locus [ Homo sapiens ]

    Gene ID: 3492, updated on 11-May-2012
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    Summary

    Official Symbol
    IGH@provided by HGNC
    Official Full Name
    immunoglobulin heavy locusprovided by HGNC
    Primary source
    HGNC:5477
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IGH; IGH.1@; IGHDY1; FLJ41981; FLJ43089; FLJ44381; MGC70893; MGC72071; MGC88774; DKFZp686C15213; DKFZp686K04218; DKFZp686L19235; DKFZp686M08189
    Summary
    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 additional of nucleotides by terminal deoxynucleotidyltransferase, and by somatic hypermutation, which occurs during B cell maturation in the spleen and lymph nodes. Several V, D, J, and C segments are known to be incapable of encoding a protein and are considered pseudogenes. [provided by RefSeq, Jul 2008]
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    Genomic context

    Location :
    14q32.33
    Sequence :
    Chromosome: 14; NC_000014.8 (106032614..107288051, complement)
    See IGH@ in Epigenomics, MapViewer

    Chromosome 14 - NC_000014.8Genomic Context describing neighboring genes Neighboring gene ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1 Neighboring gene ELK2B, member of ETS oncogene family, pseudogene Neighboring gene immunoglobulin heavy constant alpha 2 (A2m marker) Neighboring gene immunoglobulin heavy constant epsilon Neighboring gene immunoglobulin heavy constant gamma 4 (G4m marker) Neighboring gene immunoglobulin heavy constant gamma 2 (G2m marker) Neighboring gene ELK2A, member of ETS oncogene family, pseudogene Neighboring gene immunoglobulin heavy constant gamma P (non-functional) Neighboring gene ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 pseudogene 1 Neighboring gene immunoglobulin heavy constant epsilon P1 (pseudogene) Neighboring gene immunoglobulin heavy constant alpha 1 Neighboring gene uncharacterized LOC100288273 Neighboring gene immunoglobulin heavy constant gamma 1 (G1m marker) Neighboring gene immunoglobulin heavy constant gamma 3 (G3m marker) Neighboring gene immunoglobulin heavy diversity 7-27 Neighboring gene microRNA 4507 Neighboring gene immunoglobulin heavy diversity 1-26 Neighboring gene immunoglobulin heavy diversity 6-25 Neighboring gene immunoglobulin heavy diversity 3-22 Neighboring gene immunoglobulin heavy diversity 4-23 (non-functional) Neighboring gene immunoglobulin heavy diversity 5-24 (non-functional) Neighboring gene immunoglobulin heavy diversity 2-21 Neighboring gene immunoglobulin heavy diversity 6-19 Neighboring gene immunoglobulin heavy diversity 1-20 Neighboring gene immunoglobulin heavy diversity 5-18 Neighboring gene immunoglobulin heavy diversity 4-17 Neighboring gene immunoglobulin heavy diversity 3-16 Neighboring gene immunoglobulin heavy diversity 2-15 Neighboring gene immunoglobulin heavy joining 3P (pseudogene) Neighboring gene immunoglobulin heavy joining 1P (pseudogene) Neighboring gene immunoglobulin heavy diversity 1-14 (non-functional) Neighboring gene immunoglobulin heavy diversity 6-13 Neighboring gene immunoglobulin heavy joining 2P (pseudogene) Neighboring gene immunoglobulin heavy diversity 5-12 Neighboring gene immunoglobulin heavy diversity 4-11 (non-functional) Neighboring gene immunoglobulin heavy diversity 3-10 Neighboring gene immunoglobulin heavy variable (II)-1-1 (pseudogene) Neighboring gene immunoglobulin heavy constant delta Neighboring gene KIAA0125 Neighboring gene immunoglobulin heavy joining 4 Neighboring gene immunoglobulin heavy joining 5 Neighboring gene immunoglobulin heavy joining 6 Neighboring gene immunoglobulin heavy joining 1 Neighboring gene immunoglobulin heavy joining 2 Neighboring gene immunoglobulin heavy joining 3 Neighboring gene immunoglobulin heavy diversity 3-9 Neighboring gene immunoglobulin heavy diversity 2-8 Neighboring gene immunoglobulin heavy constant mu Neighboring gene immunoglobulin heavy diversity 1-7 Neighboring gene immunoglobulin heavy diversity 6-6 Neighboring gene immunoglobulin heavy diversity 3-3 Neighboring gene immunoglobulin heavy diversity 4-4 Neighboring gene immunoglobulin heavy diversity 5-5 Neighboring gene immunoglobulin heavy diversity 2-2 Neighboring gene immunoglobulin heavy diversity 1-1 Neighboring gene immunoglobulin heavy variable (III)-2-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 6-1 Neighboring gene immunoglobulin heavy variable (III)-5-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-5-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-2 Neighboring gene ribosomal protein S8 pseudogene 1 Neighboring gene immunoglobulin heavy variable 1-3 Neighboring gene ADAM metallopeptidase domain 6 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-4 Neighboring gene immunoglobulin heavy variable (III)-11-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 2-5 Neighboring gene immunoglobulin heavy variable (III)-13-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-6 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-7 Neighboring gene immunoglobulin heavy variable (III)-16-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-8 Neighboring gene immunoglobulin heavy variable 2-10 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-15-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-9 Neighboring gene immunoglobulin heavy variable 3-11 (gene/pseudogene) Neighboring gene immunoglobulin heavy variable 1-12 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-13 Neighboring gene immunoglobulin heavy variable 1-14 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-15 Neighboring gene immunoglobulin heavy variable (II)-20-1 (pseudogene) Neighboring gene solute carrier family 20 (phosphate transporter), member 1 pseudogene 2 Neighboring gene immunoglobulin heavy variable 3-16 (non-functional) Neighboring gene immunoglobulin heavy variable 1-17 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-18 Neighboring gene immunoglobulin heavy variable (III)-22-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-19 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-22-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-20 Neighboring gene immunoglobulin heavy variable (III)-25-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-21 Neighboring gene immunoglobulin heavy variable (III)-26-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-22 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-26-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-23 Neighboring gene long intergenic non-protein coding RNA 226 Neighboring gene immunoglobulin heavy variable 1-24 Neighboring gene immunoglobulin heavy variable (II)-28-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-30-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-25 (pseudogene) Neighboring gene homer homolog 2 (Drosophila) pseudogene 2 Neighboring gene immunoglobulin heavy variable 2-26 Neighboring gene immunoglobulin heavy variable (II)-31-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-30-2 (pseudogene) Neighboring gene uncharacterized LOC100288568 Neighboring gene immunoglobulin heavy variable (II)-33-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 7-27 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-28 Neighboring gene immunoglobulin heavy variable 3-29 (pseudogene) Neighboring gene golgin A4 pseudogene 2 Neighboring gene immunoglobulin heavy variable 3-30 Neighboring gene immunoglobulin heavy variable 3-33-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 7-34-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-38-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-31 Neighboring gene golgin A4 pseudogene 1 Neighboring gene immunoglobulin heavy variable 3-32 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-33 Neighboring gene immunoglobulin heavy variable 4-34 Neighboring gene immunoglobulin heavy variable 3-35 (non-functional) Neighboring gene immunoglobulin heavy variable (II)-40-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-36 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-37 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-38 (non-functional) Neighboring gene immunoglobulin heavy variable 4-39 Neighboring gene immunoglobulin heavy variable (II)-43-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 7-40 (pseudogene) Neighboring gene immunoglobulin heavy variable (IV)-44-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-44-2 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-44 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-41 (pseudogene) Neighboring gene homer homolog 2 (Drosophila) pseudogene 1 Neighboring gene immunoglobulin heavy variable (III)-47-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-42 (pseudogene) Neighboring gene long intergenic non-protein coding RNA 221 Neighboring gene immunoglobulin heavy variable (II)-46-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-43 Neighboring gene immunoglobulin heavy variable 1-45 Neighboring gene immunoglobulin heavy variable 1-46 Neighboring gene immunoglobulin heavy variable (II)-49-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-51-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-47 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-51-2 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-48 Neighboring gene immunoglobulin heavy variable (II)-53-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-49 Neighboring gene immunoglobulin heavy variable 3-50 (pseudogene) Neighboring gene immunoglobulin heavy variable 5-51 Neighboring gene immunoglobulin heavy variable 3-52 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-60-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-53 Neighboring gene immunoglobulin heavy variable (II)-62-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-54 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-55 (pseudogene) Neighboring gene immunoglobulin heavy variable 7-56 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-67-2 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-65-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-57 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-58 Neighboring gene immunoglobulin heavy variable (III)-67-3 (pseudogene) Neighboring gene immunoglobulin heavy variable (III)-67-4 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-59 Neighboring gene immunoglobulin heavy variable 3-60 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-67-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-61 Neighboring gene immunoglobulin heavy variable 3-62 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-63 (pseudogene) Neighboring gene golgin A4 pseudogene 3 Neighboring gene immunoglobulin heavy variable 3-64 Neighboring gene solute carrier family 20 (phosphate transporter), member 1 pseudogene 1 Neighboring gene immunoglobulin heavy variable 3-65 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-66 Neighboring gene immunoglobulin heavy variable 1-67 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-68 (pseudogene) Neighboring gene immunoglobulin heavy variable 1-69 Neighboring gene immunoglobulin heavy variable (III)-76-1 (pseudogene) Neighboring gene immunoglobulin heavy variable (II)-74-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 2-70 Neighboring gene immunoglobulin heavy variable 3-71 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-72 Neighboring gene immunoglobulin heavy variable (II)-78-1 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-73 Neighboring gene uncharacterized LOC317730 Neighboring gene immunoglobulin heavy variable 3-74 Neighboring gene immunoglobulin heavy variable (III)-82 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-75 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-76 (pseudogene) Neighboring gene immunoglobulin heavy variable 5-78 (pseudogene) Neighboring gene immunoglobulin heavy variable 3-79 (pseudogene) Neighboring gene immunoglobulin heavy variable 4-80 (pseudogene) Neighboring gene immunoglobulin heavy variable 7-81 (non-functional)

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Interaction of human, rat, and mouse immunoglobulin A (IgA) with Staphylococcal superantigen-like 7 (SSL7) decoy protein and leukocyte IgA receptor. Wines BD, et al. J Biol Chem, 2011 Sep 23. PMID 21784854.
    2. Direct interactions of OCA-B and TFII-I regulate immunoglobulin heavy-chain gene transcription by facilitating enhancer-promoter communication. Ren X, et al. Mol Cell, 2011 May 6. PMID 21549311.
    3. Translocations activating IRF4 identify a subtype of germinal center-derived B-cell lymphoma affecting predominantly children and young adults. Salaverria I, et al. Blood, 2011 Jul 7. PMID 21487109.
    4. Switching on cytotoxicity by a single mutation at the heavy chain variable region of an anti-ganglioside antibody. Fernández-Marrero Y, et al. Mol Immunol, 2011 Apr. PMID 21306777.
    5. Expression and distribution of immunoglobulin G and its receptors in an immune privileged site: the eye. Niu N, et al. Cell Mol Life Sci, 2011 Jul. PMID 21061041.

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data indicate that high iLR expression was strongly correlated with negativity for CD38 and ZAP-70 expression and mutated IGVH gene status.
      Title: High expression of the immature laminin receptor protein correlates with mutated IGVH status and predicts a favorable prognosis in chronic lymphocytic leukemia.
    2. Glycosylation of the CH2/CH3 interface inhibits interaction with the pathogen IgA binding protein SSL7, while maintaining binding of pIgR, essential to the biosynthesis and transport of SIgA.
      Title: Interaction of human, rat, and mouse immunoglobulin A (IgA) with Staphylococcal superantigen-like 7 (SSL7) decoy protein and leukocyte IgA receptor.
    3. Data show that IgG heavy chains and IgG receptors were detected in the intraocular epithelium and endothelium.
      Title: Expression and distribution of immunoglobulin G and its receptors in an immune privileged site: the eye.
    4. we identified chromosomal translocations juxtaposing the IRF4 oncogene next to one of the immunoglobulin (IG) loci as a novel recurrent aberration in mature B-cell lymphoma
      Title: Translocations activating IRF4 identify a subtype of germinal center-derived B-cell lymphoma affecting predominantly children and young adults.
    5. Data show that Igh 3' enhancer-bound OCA-B and promoter-bound TFII-I mediate promoter-enhancer interactions, in both cis and trans, that are important for Igh transcription.
      Title: Direct interactions of OCA-B and TFII-I regulate immunoglobulin heavy-chain gene transcription by facilitating enhancer-promoter communication.
    6. Data show that E99-->R mutation at the heavy chain variable region of an anti-ganglioside antibody caused a change in cytotoxic effect.
      Title: Switching on cytotoxicity by a single mutation at the heavy chain variable region of an anti-ganglioside antibody.
    7. this is the first report that describes variant rearrangements of IGH/BCL2 genes associated to atypical FISH patterns in follicular lymphoma
      Title: Cryptic IGH/BCL2 rearrangements with variant FISH patterns in follicular lymphoma.
    8. The molecular characterization of the IGH-MALT1 fusion products in 5 new cases of t(14;18)-positive mucosa-associated lymphoid tissue lymphomas, is reported.
      Title: The t(14;18)(q32;q21)/IGH-MALT1 translocation in MALT lymphomas contains templated nucleotide insertions and a major breakpoint region similar to follicular and mantle cell lymphoma.
    9. BLID upregulation resulting from a novel IGH translocation is associated with childhood B-Cell precursor acute lymphoblastic leukemia.
      Title: MicroRNA-125b-1 and BLID upregulation resulting from a novel IGH translocation in childhood B-Cell precursor acute lymphoblastic leukemia.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Toward a comprehensive prognostic scoring system in chronic lymphocytic leukemia based on a combination of genetic parameters.
    Submit: New GeneRIF Correction See all (36)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    General gene information

    Markers

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    General protein information

    Names
    immunoglobulin heavy locus
    immunglobulin heavy chain variable region
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    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_001019.5 Reference

      Range
      1490..1256926
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000014.8 Reference GRCh37.p5 Primary Assembly

      Range
      106032614..107288051, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000146.1 Alternate HuRef

      Range
      86298596..87059772, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB019437.1 None
    genomic AB019438.1 None
    genomic AB019439.1 None
    genomic AB019440.1 None
    genomic AB019441.1 None
    genomic AL122127.6 (1..168208) None
    genomic AL901608.1 (13167..34977) None
    genomic AL928742.3 (573..91424) None
    genomic AL928761.2 None
    genomic AL928762.2 (13..2394) None
    genomic AL928765.1 (1..7339) None
    genomic AL928767.1 (24..10608) None
    genomic AL928768.1 None
    genomic AL928769.1 (1500..11356) None
    genomic DQ535074.1 ABG38437.1
    mRNA AK123975.1 BAC85740.1
    mRNA AK125079.1 BAC86044.1
    mRNA AK126352.1 BAC86532.1
    mRNA BC066594.1 None
    mRNA BX538066.1 CAD97996.1
    mRNA BX640822.1 CAE45898.1
    mRNA BX640854.1 CAE45921.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q0ZCI1 GenPept UniProtKB/TrEMBL:Q0ZCI1
    Q6GMX6 GenPept UniProtKB/TrEMBL:Q6GMX6
    Q6MZU6 GenPept UniProtKB/TrEMBL:Q6MZU6
    Q6MZV6 GenPept UniProtKB/TrEMBL:Q6MZV6
    Q6MZX9 GenPept UniProtKB/TrEMBL:Q6MZX9
    Q6P089 GenPept UniProtKB/TrEMBL:Q6P089
    Q6ZVX0 GenPept UniProtKB/TrEMBL:Q6ZVX0
    Q7Z379 GenPept UniProtKB/TrEMBL:Q7Z379
    Q96QR9 GenPept UniProtKB/TrEMBL:Q96QR9
    Q96QS0 GenPept UniProtKB/TrEMBL:Q96QS0
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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