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    IGKV@ immunoglobulin kappa variable cluster [ Homo sapiens (human) ]

    Gene ID: 3519, updated on 5-Feb-2023

    Summary

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    Gene symbol
    IGKV@
    Gene description
    immunoglobulin kappa variable cluster
    See related
    MIM:146980
    Gene type
    other
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IGKV; IGKV1; IGKV2; IGKV3; IGKV1@; IGKV2@; IGKV3@
    Summary
    Immunoglobulins (Ig) are the antigen recognition molecules of B cells. An Ig molecule is made up of 2 identical heavy chains (see MIM 147100) and 2 identical light chains, either kappa or lambda (see MIM 147220), joined by disulfide bonds so that each heavy chain is linked to a light chain and the 2 heavy chains are linked together. The kappa and lambda light chains have no apparent functional differences. Each Ig kappa light chain has an N-terminal variable (V) region containing the antigen-binding site and a C-terminal constant (C) region, encoded by a C region gene (IGKC; MIM 147200), that provides signaling functions. The kappa light chain V region is encoded by 2 types of genes: V genes and joining (J) genes (see MIM 146970). Random selection of just 1 gene of each type to assemble a V region accounts for the great diversity of V regions among Ig molecules. The kappa light chain locus on chromosome 2 contains approximately 40 functional V genes, followed by approximately 5 functional J genes. Due to polymorphism, the numbers of functional V and J genes differ among individuals (Janeway et al., 2005).[supplied by OMIM, Apr 2008]
    Annotation information
    not in current annotation release
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    Genomic context

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    Location:
    2p12

    Bibliography

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    Related articles in PubMed

    1. Distribution of human kappa locus IGKV2-29 and IGKV2D-29 alleles in Swedish Caucasians and Hong Kong Chinese. Padyukov L, et al. Immunogenetics, 2001 Feb. PMID 11261927
    2. Biased immunoglobulin light chain use in the Chlamydophila psittaci negative ocular adnexal marginal zone lymphomas. Zhu D, et al. Am J Hematol, 2013 May. PMID 23418012, Free PMC Article
    3. Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL). Abraham RS, et al. Blood, 2003 May 15. PMID 12515719
    4. Analysis of heavy and light chain pairings indicates that receptor editing shapes the human antibody repertoire. de Wildt RM, et al. J Mol Biol, 1999 Jan 22. PMID 9887257
    5. A conserved sequence in the immunoglobulin J kappa-C kappa intron: possible enhancer element. Emorine L, et al. Nature, 1983 Aug 4-10. PMID 6308460

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Data suggest that mutations in IGKV (immunoglobulin kappa variable cluster) predominate over mutations in IGLV (immunoglobulin lambda variable cluster) in Chlamydophila psittaci negative ocular adnexal marginal zone lymphomas (OAMALTL).
      Title: Biased immunoglobulin light chain use in the Chlamydophila psittaci negative ocular adnexal marginal zone lymphomas.
    2. Observational study of genotype prevalence. (HuGE Navigator)
      Title: Distribution of human kappa locus IGKV2-29 and IGKV2D-29 alleles in Swedish Caucasians and Hong Kong Chinese.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL).
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Other Names

    • immunoglobulin kappa variable group
    • immunoglobulin kappa variable region
    Nucleotide Protein
    Heading Accession and Version

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