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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IGKV@ Cluster

gene cluster   GIFtS: 21
GCID: GC02U990059

Immunoglobulin Kappa Variable Cluster


  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section


Aliases
IGKV2     IGKV2@2
IGKV12     IGKV32
IGKV1@2     IGKV3@2
IGKV22     Immunoglobulin Kappa Variable Cluster2

External Ids:    Entrez Gene: 35192   OMIM: 1469805   

Export aliases for IGKV@ gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for IGKV@ Gene:
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)

GeneCards Summary for IGKV@ Gene: 
IGKV@ is a gene cluster. Diseases associated with IGKV@ include amyloidosis, and among its related super-pathways are Immune response Lectin induced complement pathway and Immune response Role of DAP12 receptors in NK cells.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for IGKV@
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Epigenetics:
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Genomic Location:
Chromosome:2   

Entrez Gene cytogenetic band: 2p12   

GeneLoc information about chromosome 2        


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
  --

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:
     Genatlas biochemistry entry for IGKV@:
immunoglobulin,kappa,variable region (32 genes,25 pseudogenes,16 sequences with minor defects,3 undetermined),in
two groups called Lp (proximal) and Ld (distal)

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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for IGKV@ About                                                                                                See pathways by source

SuperPathContained pathways About
1Immune response Lectin induced complement pathway
Immune response Classic complement pathway0.53
Immune response Classical complement pathway0.52
2Immune response Fc epsilon RI pathway
Immune response Fc epsilon RI pathway0.45
Immune response IL-4 signaling pathway0.38
Immune response BCR pathway0.45
Immune response CD16 signaling in NK cells0.32
3Signal transduction IP3 signaling
Signal transduction IP3 signaling0.92
4Immune response NFAT in immune response
Immune response NFAT in immune response0.90

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

5/7 EMD Millipore Pathways for IGKV@ (see all 7)
    Immune response Classic complement pathway
Immune response BCR pathway
Immune response CD16 signaling in NK cells
Signal transduction IP3 signaling
Immune response IL-4 signaling pathway


5/7 GeneGo (Thomson Reuters) Pathways for IGKV@ (see all 7)
    Immune response IL-4 signaling pathway
Immune response Fc epsilon RI pathway
Immune response CD16 signaling in NK cells
Immune response Classical complement pathway
Immune response BCR pathway



IGKV@ for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IGKV@

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

Unigene Cluster for IGKV@:

Immunoglobulin kappa variable cluster
Hs.535669  [show with all ESTs]
Unigene Representative Sequence: CD101742
miRNA
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Additional mRNA sequence: 

AF001792.1 AF103696.1 AF194610.1 AF194611.1 AF194612.1 Z46852.1 

14 DOTS entries:

DT.100046628  DT.100046938  DT.120677714  DT.120677966  DT.91683758  DT.95355817  DT.91694152  DT.92006280 
DT.100885132  DT.120678003  DT.75107949  DT.86998433  DT.87018189  DT.91934757 

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

Expression evidence for IGKV@:none

See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --


SOURCE GeneReport for Unigene cluster: Hs.535669
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for IGKV@ gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Igk-V5 immunoglobulin kappa chain complex variable region   --   6 -

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

Human Gene Mutation Database (HGMD): IGKV@

Locus Specific Mutation Databases (LSDB): IGKV@
SABiosciences Cancer Mutation PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing IGKV@
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 146980    OMIM disorders: --

2 diseases for IGKV@:    About MalaCards
amyloidosis    


IGKV@ for disorders           About GeneDecksing

Genetic Association Database (GAD): IGKV@
Human Genome Epidemiology (HuGE) Navigator: IGKV@ (2 documents)

Export disorders for IGKV@ gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for IGKV@ gene, integrated from 9 sources (see all 14):
(articles sorted by number of sources associating them with IGKV@)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL). (PubMed id 12515719)1, 4 Abraham R.S....Fonseca R. (2003)
  2. Distribution of human kappa locus IGKV2-29 and IGKV2D-29 alleles in Swedish Caucasians and Hong Kong Chinese. (PubMed id 11261927)1, 4 Padyukov L....Hanson L.A. (2001)
  3. Biased immunoglobulin light chain use in the Chlamydop hila psittaci negative ocular adnexal marginal zone lymphomas. (PubMed id 23418012)1 Zhu D....Lossos I.S. (2013)
  4. Analysis of heavy and light chain pairings indicates that receptor editing shapes the human antibody repertoire. (PubMed id 9887257)1 de Wildt R.M....Winter G. (1999)
  5. A conserved sequence in the immunoglobulin J kappa-C kappa intron: possible enhancer element. (PubMed id 6308460)1 Emorine L....Max E.E. (1983)
  6. Evolution of human immunoglobulin kappa J region genes. (PubMed id 6276389)1 Hieter P.A....Leder P. (1982)
  7. Cloned human and mouse kappa immunoglobulin constant and J region genes conserve homology in functional segments. (PubMed id 6775818)1 Hieter P.A.... Leder P. (1980)
  8. Immunoglobulin light-chain genes in the rhesus macaque I: kappa light-chain germline sequences for subgroups IGKV1, IGKV and IGKV3. (PubMed id 15900492)9 Howard W.A....Dunn-Walters D.K. (2005)
  9. The reported germline repertoire of human immunoglobulin kappa chain genes is relatively complete and accurate. (PubMed id 18712520)9 Collins A.M....Sewell W.A. (2008)
  10. The pre-immune variable kappa repertoire of swine is selectively generated from certain subfamilies of Vkappa2 and one Jkappa gene. (PubMed id 16112743)9 Butler J.E....Wells K. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 3519 euGenes: HUgn3519

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for IGKV@ Pharmacogenomics, SNPs, Pathways
IMGT entry for IGKV@ The international ImMunoGeneTics information system® specializing in Immunoglobulins (IG), T cell receptors (TR), Major Histocompatibility Complex (MHC) and related proteins of the immune system (RPI) of human and other vertebrate species.

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for IGKV@ gene:
Search GeneIP for patents involving IGKV@

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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