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IGKV2-30 Gene

protein-coding   GIFtS: 20
GCID: GC02M090141

Immunoglobulin Kappa Variable 2-30

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Immunoglobulin Kappa Variable 2-301 2
A172
IGKV2302

External Ids:    HGNC: 57851   Entrez Gene: 289192   Ensembl: ENSG000002432387   

Export aliases for IGKV2-30 gene to outside databases

Previous GC identifers: GC02U990197 GC02M089429 GC02M089446 GC02M089383 GC02M089325 GC02M089545 GC02M089590 GC02M089751 GC02M089966


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for IGKV2-30 Gene:
IGKV2-30 (immunoglobulin kappa variable 2-30) is a protein-coding gene. Diseases associated with IGKV2-30 include chronic lymphocytic leukemia, and leukemia. An important paralog of this gene is IGKV1D-37.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for IGKV2-30
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for IGKV2-30

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IGKV2-30


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p12   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p11.2

IGKV2-30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IGKV2-30 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M090141:  view genomic region     (about GC identifiers)

Start:
89,544,264 bp from pter      End:
89,545,079 bp from pter
Size:
816 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB: --
Explore proteomics data for IGKV2-30 at MOPED


See IGKV2-30 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB


ENSEMBL proteins: 
 ENSP00000418138  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
IGK: Immunoglobulins / IGK locus

  --

(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
IGKV2-30 for ontologies           About GeneDecksing


Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
plasma membrane4

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IGKV2-30
Interactions:

    Search GeneGlobe Interaction Network for IGKV2-30

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

Selected Interacting proteins for IGKV2-30 (ENSP000004181384) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
InteractantInteraction Details
GeneCardExternal ID(s)
SIRPDENSP000003710364STRING: ENSP00000371036
SIRPAENSP000003483074STRING: ENSP00000348307
IGHV7-81ENSP000003750484STRING: ENSP00000375048
IGHA1ENSP000003749894STRING: ENSP00000374989
IGHA2ENSP000003749814STRING: ENSP00000374981
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
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  Browse compounds at ApexBio 

Browse Tocris compounds for IGKV2-30



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000468494
miRNA
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Selected AceView cDNA sequences (see all 131):

AA488924 BV175962 BV179551 BV192925 BV193038 AA721035 BX109300 BV176263 
AA488852 BV193646 CB988631 BF175014 BF173929 X56510 CD689213 CD706837 
BF176331 BF175166 AF035034 AW407873 BX283527 AB063971 AB063933 BF176198 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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IGKV2-30 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
IGKV2-30 Expression
About this image


IGKV2-30 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 
 Blood (Hematopoietic System)
         Mature B-Cells Peripheral Blood
IGKV2-30 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

IGKV2-30 Protein Expression
    Custom PCR Arrays for IGKV2-30
Primer
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In Situ
Assay Products:
 

 
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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)
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  --

ENSEMBL Gene Tree for IGKV2-30 (if available)
TreeFam Gene Tree for IGKV2-30 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for IGKV2-30 gene
IGKV1D-372  IGKV3D-112  IGKV1D-82  IGKV1D-332  IGKV4-12  IGKV1-62  IGKV3-112  IGKV1D-122  
IGKV3D-72  IGKV2-402  IGKV3OR2-2682  IGKV3-202  ENSG000002709992  IGKV1OR2-1082  IGKV1-162  IGKV1-172  
IGKV1-82  IGKV1-272  IGKV2D-262  IGKV1-392  IGKV6D-212  IGKV1-52  IGKV1-372  IGKV1-332  
IGKV1D-172  ENSG000002283252  IGKV2D-302  IGKV1D-132  IGKV1D-392  IGKV2-282  IGKV1-122  IGKV5-22  
IGKV3-72  IGKV3D-202  IGKV2D-282  IGKV1D-432  IGKV3-152  IGKV3D-152  IGKV1-92  IGKV1D-162  
IGKV1D-422  IGKV6-212  IGKV2D-242  IGKV2-242  IGKV2D-292  IGKV2D-402  IGKV6D-412  

IGKV2-30 for paralogs           About GeneDecksing


2 Pseudogenes.org Pseudogenes for IGKV2-30
PGOHUM00000250436 PGOHUM00000250461


(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing IGKV2-30
DNA2.0 Custom Variant and Variant Library Synthesis for IGKV2-30

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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2 diseases for IGKV2-30:    
About MalaCards
chronic lymphocytic leukemia    leukemia

1 disease from the University of Copenhagen DISEASES database for IGKV2-30:
Chronic lymphocytic leukemia

IGKV2-30 for disorders           About GeneDecksing


Export disorders for IGKV2-30 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)
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PubMed articles for IGKV2-30 gene integrated from 10 sources:
(articles sorted by number of sources associating them with IGKV2-30)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Profiling of Parkin-binding partners using tandem affinity purification. (PubMed id 24244333)1 Zanon A....Pichler I. (PLoS ONE 2013)
  2. The human immunoglobulin kappa locus. Characterization of the duplicated A regions. (PubMed id 1551402)1 Lautner-Rieske A.... Zachau H.G. (Eur. J. Immunol. 1992)

(in PubMed, OMIM, and NCBI Bookshelf)
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 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)
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Entrez Gene: 28919 HGNC: 5785 AceView: IGKV2_ Ensembl:ENSG00000243238 euGenes: HUgn28919
ECgene: IGKV2-30 H-InvDB: IGKV2-30

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for IGKV2-30 Pharmacogenomics, SNPs, Pathways
IMGT entry for IGKV2-30 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.)
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Patent Information for IGKV2-30 gene:
Search GeneIP for patents involving IGKV2-30

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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