IGK (Immunoglobulin Kappa)

Identity

HGNC	IGK@
Location	2p12
	for complete Figure, see: chromosome 2, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2003 IMGT, IMGT is a CNRS trademark

Note	The human IGK locus is located on chromosome 2 on the short arm, at band 2p12. The orientation of the locus has been determined by the analysis of translocations, involving the IGK locus, in leukemia and lymphoma.

DNA/RNA

	IGK V-GENE: Green box: Functional; Yellow box: Open reading frame; Red: Pseudogene. J-GENE: Grey: Functional . C-GENE: Blue: Functional. for complete Figure, see: locus IGK, IMGT (The International ImMunoGeneTics information system ®) © Copyright 1995-2003 IMGT, IMGT is a CNRS trademark
Description	The human IGK locus at 2p12 spans 1820 kb. It consists of 76 IGKV genes belonging to 7 subgroups, 5 IGKJ segments, and a unique IGKC gene The 76 IGKV genes are organized in two clusters separated by 800 kb. The IGKV distal cluster (the most 5' from IGKC and in the most centromeric position) spans 400 kb and comprises 36 genes. The IGKV proximal cluster (in 3' of the locus, closer to IGKC, and in the most telomeric position) spans 600 kb and comprises 40 genes. The potential genomic IGK repertoire comprises 31 to 35 functional IGKV genes belonging to 5 subgroups, the 5 IGKJ segments, and the unique IGKC gene. One rare IGKV haplotype has been described which contains only the proximal cluster. This haplotype comprises the 40 proximal IGKV genes belonging to 7 subgroups, of which 17 to 19 are functional and belong to 5 subgroups. Twenty-eight IGKV orphons have been identified and sequenced: 3 on the short arm of chromosome 2 but outside of the main IGK locus, 13 on the long arm of chromosome 2, 6 on chromosome 22, one on chromosome 1, one on chromosome 15, and 4 outside of chromosome 2 If both the proximal and distal IGKV clusters are present, the total number of human IGK genes per haploid genome is 82 (110 genes, if the orphons are included) of which 37-41 are functional. If only the proximal IGKV cluster is present, the total number of genes per haploid genome is 46 (74 genes, if the orphons are included) of which 23-25 genes are functional. List of the human IGK genes

Protein

Description

Proteins encoded by the IGK locus are the immunoglobulin kappa chains. They result from the recombination (or rearrangement), at the DNA level, of two genes: IGKV and IGKJ, with deletion of the intermediary DNA to create a rearranged IGKV-J gene. The rearranged IGKV-J gene is transcribed with the IGKC gene and translated into an immunoglobulin kappa chain. Translation of the variable germline genes involved in the IGKV-J rearrangements are available at IMGT Repertoire Protein displays. Compared to the germline genes, the rearranged variable genes will acquire somatic mutations during the B cell differentiation in the lymph nodes, which will considerably increase their diversity. These somatic mutations can be analysed using IMGT/V-QUEST tool

Mutations

Note	Mutations which correspond to allelic polymorphisms of the functional germline IGKV, IGKJ and IGKC genes are described in the IMGT database: (IMGT Repertoire> Alignments of alleles)

Implicated in

Entity	Translocations which frequently result from errors of the recombinase enzyme complexe (RAG1, RAG2, etc.), which is responsable of the Immunoglobulin and T cell receptor V-J and V-D-J rearrangements. IGKV or IGKJ recombination signals or isolated heptamer are observed at the breakpoints
	c-Immunoglobulin genes IgK at 2p12, in normal cells: PAC 1117G4 - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are wellcome: contact M Rocchi
Entity	t(2;3;)(p12;q27); involve BCL6 in 3q27
Disease	B-cell non-Hodgkin lymphomas (NHL), mainly diffuse large cell lymphoma; adult aggressive lymphoma
Prognosis	controversial
Entity	t(2;8)(p12;q24); involve C-MYC in 8q24
Disease	B-cell acute lymphoblastic leukemia (ALL3) and non-Hodgkin lymphomas (NHL), especially in the Burkitt lymphoma
Prognosis	the prognosis has evolved with new treatments

Breakpoints

External links

	Nomenclature
HGNC	IGK@   5715
Entrez_Gene	IGK@  50802  immunoglobulin kappa locus
	Cards
Atlas	IgKID17
GeneCards	IGK@
Ensembl	IGK@ [Search_View]   ENSG00000182450 [Gene_View]
Genatlas	IGK@
GeneLynx	IGK@
eGenome	IGK@
euGene	50802
	Genomic and cartography
GoldenPath	IGK@  -  2p12   chr2:88937794-89223739 -  2p12   [Description]    (hg18-Mar_2006)
Ensembl	IGK@ - 2p12 [CytoView]
NCBI	Mapview
HomoloGene	IGK@
	Gene and transcription
Genbank	AK129807 [ ENTREZ ]
Genbank	BC016380 [ ENTREZ ]
Genbank	BC030813 [ ENTREZ ]
Genbank	BC032451 [ ENTREZ ]
Genbank	BC062704 [ ENTREZ ]
RefSeq	AC_000045 [ SRS ]    AC_000045 [ ENTREZ ]
RefSeq	AC_000134 [ SRS ]    AC_000134 [ ENTREZ ]
RefSeq	NC_000002 [ SRS ]    NC_000002 [ ENTREZ ]
RefSeq	NG_000833 [ SRS ]    NG_000833 [ ENTREZ ]
RefSeq	NG_000834 [ SRS ]    NG_000834 [ ENTREZ ]
RefSeq	NT_022184 [ SRS ]    NT_022184 [ ENTREZ ]
RefSeq	NT_032994 [ SRS ]    NT_032994 [ ENTREZ ]
RefSeq	NW_001838785 [ SRS ]    NW_001838785 [ ENTREZ ]
RefSeq	NW_001838792 [ SRS ]    NW_001838792 [ ENTREZ ]
RefSeq	NW_927808 [ SRS ]    NW_927808 [ ENTREZ ]
RefSeq	NW_927819 [ SRS ]    NW_927819 [ ENTREZ ]
AceView	IGK@ AceView - NCBI
Unigene	Hs.709180 [ SRS ]    Hs.709180 [ NCBI ]     HS709180 [ spliceNest ]
	Protein : pattern, domain, 3D structure
SwissProt	Q6P5S8 [ SRS]    Q6P5S8 [ EXPASY ]     Q6P5S8 [ INTERPRO ]     Q6P5S8 [ UNIPROT ]
Prosite	PS50835 IG_LIKE [ SRS ]    PS50835 IG_LIKE [ Expasy ]
Prosite	PS00290 IG_MHC [ SRS ]    PS00290 IG_MHC [ Expasy ]
Interpro	IPR007110 Ig-like [ SRS ]    IPR007110 Ig-like [ EBI ]
Interpro	IPR013783 Ig-like_fold [ SRS ]    IPR013783 Ig-like_fold [ EBI ]
Interpro	IPR003006 Ig/MHC_CS [ SRS ]    IPR003006 Ig/MHC_CS [ EBI ]
Interpro	IPR003597 Ig_C1-set [ SRS ]    IPR003597 Ig_C1-set [ EBI ]
Interpro	IPR013106 Ig_V-set [ SRS ]    IPR013106 Ig_V-set [ EBI ]
Interpro	IPR003596 Ig_V-set_sub [ SRS ]    IPR003596 Ig_V-set_sub [ EBI ]
CluSTr	Q6P5S8
Pfam	PF07654 C1-set [ SRS ]    PF07654 C1-set [ Sanger ]    pfam07654 [ NCBI-CDD ]
Pfam	PF07686 V-set [ SRS ]    PF07686 V-set [ Sanger ]    pfam07686 [ NCBI-CDD ]
Smart	SM00407 IGc1 [EMBL]
Smart	SM00406 IGv [EMBL]
Blocks	Q6P5S8
PDB	1TZG [ SRS ]    1TZG [ PdbSum ],   1TZG [ IMB ]   1TZG [ RSDB ]
PDB	2FX7 [ SRS ]    2FX7 [ PdbSum ],   2FX7 [ IMB ]   2FX7 [ RSDB ]
PDB	2FX8 [ SRS ]    2FX8 [ PdbSum ],   2FX8 [ IMB ]   2FX8 [ RSDB ]
PDB	2FX9 [ SRS ]    2FX9 [ PdbSum ],   2FX9 [ IMB ]   2FX9 [ RSDB ]
	Protein Interaction databases
DIP	Q6P5S8
IntAct	Q6P5S8
	Polymorphism : SNP, mutations, diseases
SNP	IGK@ [dbSNP-NCBI]
SNP	IGK@ [GeneSNPs - Utah]  IGK@] [HGBASE - SRS]
HAPMAP	IGK@ [HAPMAP]
HGMD	IGK@
	General knowledge
Family Browser	IGK@ [UCSC Family Browser]
SMD	Hs.709180
SAGE	Hs.709180
PubGene	IGK@
TreeFam	IGK@
CTD	50802 [Comparative ToxicoGenomics Database]
	Other databases
Other database	IGK@ - IMGT
	Probes
Probe	Immunoglobulin genes IgK at 2p12, in normal cells (Bari)
Probe	Probes IMGT
Probe	IGK@ Related clones (RZPD - Berlin)
	PubMed
PubMed	9 Pubmed reference(s) in Entrez

Bibliography

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Zachau HG

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PMID 8276255

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PMID 8223863

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PMID 8149953

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PMID 8011175

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Barbiˆ© V, Lefranc MP

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PMID 9813414

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PMID 10575277

Evolution of human immunoglobulin kappa J region genes.

Hieter PA, Maizel JV Jr, Leder P

The Journal of biological chemistry. 1982 ; 257 (3) : 1516-1522.

PMID 6276389

Evolution of human immunoglobulin kappa J region genes.

Hieter PA, Maizel JV Jr, Leder P

The Journal of biological chemistry. 1982 ; 257 (3) : 1516-1522.

PMID 6276389

Cloned human and mouse kappa immunoglobulin constant and J region genes conserve homology in functional segments.

Hieter PA, Max EE, Seidman JG, Maizel JV Jr, Leder P

Cell. 1980 ; 22 (1 Pt 1) : 197-207.

PMID 6775818

Duration of effect of botulinum toxin type A in adult patients with cervical dystonia: a retrospective chart review.

Brashear A, Watts MW, Marchetti A, Magar R, Lau H, Wang L

Clinical therapeutics. 2000 ; 22 (12) : 1516-1524.

PMID 11192142

The Immunologist FactsBook (Review)

Lefranc MP and Lefranc G

Academic Press, London, UK (. 1945.

Duration of effect of botulinum toxin type A in adult patients with cervical dystonia: a retrospective chart review.

Brashear A, Watts MW, Marchetti A, Magar R, Lau H, Wang L

Clinical therapeutics. 2000 ; 22 (12) : 1516-1524.

PMID 11192142

Nomenclature of the human immunoglobulin kappa (IGK) genes.

Lefranc MP

Experimental and clinical immunogenetics. 2001 ; 18 (3) : 161-174.

PMID 11549845

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Contributor(s)

Written	07-2000	Marie-Paule Lefranc
Updated	09-2003	Marie-Paule Lefranc

Citation

This paper should be referenced as such :

Lefranc MP . IGK (Immunoglobulin Kappa). Atlas Genet Cytogenet Oncol Haematol. July 2000 . URL : http://AtlasGeneticsOncology.org/Genes/IgKID17.html

Lefranc MP . IGK (Immunoglobulin Kappa). Atlas Genet Cytogenet Oncol Haematol. September 2003 . URL : http://AtlasGeneticsOncology.org/Genes/IgKID17.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Mon Sep 29 18:40:55 2008