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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
Primary source
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
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