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KCNV2 Gene

protein-coding   GIFtS: 55
GCID: GC09P002705

Potassium Channel, Subfamily V, Member 2

  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
Potassium Channel, Subfamily V, Member 21 2
Voltage-Gated Potassium Channel Subunit Kv8.22 3
KV11.12 5
RCD3B2 5
Kv8.22
Potassium Voltage-Gated Channel Subfamily V Member 22

External Ids:    HGNC: 196981   Entrez Gene: 1695222   Ensembl: ENSG000001682637   OMIM: 6076045   UniProtKB: Q8TDN23   

Export aliases for KCNV2 gene to outside databases

Previous GC identifers: GC09P002699 GC09P002707


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KCNV2 Gene:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both
functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart
rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and
cell volume. This gene encodes a member of the potassium voltage-gated channel subfamily V. This member is
identified as a 'silent subunit', and it does not form homomultimers, but forms heteromultimers with several
other subfamily members. Through obligatory heteromerization, it exerts a function-altering effect on other
potassium channel subunits. This protein is strongly expressed in pancreas and has a weaker expression in several
other tissues. (provided by RefSeq, Jul 2008)

GeneCards Summary for KCNV2 Gene:
KCNV2 (potassium channel, subfamily V, member 2) is a protein-coding gene. Diseases associated with KCNV2 include retinal cone dystrophy 3b, and retinal cone dystrophy 3. GO annotations related to this gene include delayed rectifier potassium channel activity. An important paralog of this gene is KCNF1.

UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2
Function: Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal
activation to more negative values

summary for KCNV2 Gene:
Voltage-gated potassium channels (KV) belong to the 6-TM family of potassium channel that also comprises the
Ca2+-activated Slo (actually 7-TM) and the Ca2+-activated SK subfamilies. The pore-forming alpha-subunits
contain a single pore-forming region and combine to form tetramers. Heteromeric channels can be formed
within subfamilies e.g. KV1.1 with KV1.2 and KCNQ2 with KCNQ3.

Gene Wiki entry for KCNV2 Gene


(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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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008413.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the KCNV2 gene promoter:
         LHX3b/Lhx3b   AML1a   Egr-1   Egr-4   Arnt   MEF-2A   HOXA5   LHX3a/Lhx3a   Chx10   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKCNV2 promoter sequence
   Search Chromatin IP Primers for KCNV2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KCNV2


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

Entrez Gene cytogenetic band: 9p24.2   Ensembl cytogenetic band:  9p24.2   HGNC cytogenetic band: 9p24.2

KCNV2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KCNV2 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P002705:  view genomic region     (about GC identifiers)

Start:
2,717,502 bp from pter      End:
2,730,037 bp from pter
Size:
12,536 bases      Orientation:
plus 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/Swiss-Prot: KCNV2_HUMAN, Q8TDN2 (See protein sequence)
Recommended Name: Potassium voltage-gated channel subfamily V member 2  
Size: 545 amino acids; 62459 Da
Subunit: Heteromultimer with KCNB1, KCNC1 and KCNF1. Does not form homomultimers
Secondary accessions: Q5T6X0

Explore the universe of human proteins at neXtProt for KCNV2: NX_Q8TDN2

Explore proteomics data for KCNV2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn440
  • Modification sites at PhosphoSitePlus

  • See KCNV2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_598004.1  
    ENSEMBL proteins: 
     ENSP00000371514  
    Reactome Protein details: Q8TDN2

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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:
    KCN: Potassium channels
    Kv: Voltage-gated ion channels / Potassium channels

    IUPHAR Guide to PHARMACOLOGY protein family classification: Kv8.2
    Voltage-gated potassium channels

    Selected InterPro protein domains (see all 8):
     IPR005821 Ion_trans_dom
     IPR011333 BTB/POZ_fold
     IPR027359 Channel_four-helix_dom
     IPR003971 K_chnl_volt-dep_Kv9
     IPR028325 VG_K_chnl

    Graphical View of Domain Structure for InterPro Entry Q8TDN2

    ProtoNet protein and cluster: Q8TDN2

    2 Blocks protein domains:
    IPB003091 Potassium channel signature
    IPB003971 Kv9 potassium channel alpha subunit signature


    UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2
    Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino
    acids at every third position
    Similarity: Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily


    KCNV2 for domains           About GeneDecksing


    (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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KCNV2_HUMAN, Q8TDN2
    Function: Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal
    activation to more negative values

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005216ion channel activity ----
    GO:0005251delayed rectifier potassium channel activity IBA--
         
    KCNV2 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 UniProtKB/Swiss-Prot
    KCNV2_HUMAN, Q8TDN2: Cell membrane; Multi-pass membrane protein. Note=Has to be associated with KCNB1 or possibly
    another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0008076voltage-gated potassium channel complex IEA--
    GO:0016020membrane ----

    KCNV2 for ontologies           About GeneDecksing


    (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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    SuperPaths for KCNV2 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Sweet Taste Signaling
    Sweet Taste Signaling0.72
    Bitter Taste Signaling0.44
    Melatonin Signaling0.72
    Sperm Motility0.37
    Cellular Effects of Sildenafil0.46
    2Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    PKA Signaling0.56
    cAMP Pathway0.77
    3Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Neuropathic Pain-Signaling in Dorsal Horn Neurons0.47
    Cholera Infection0.40
    Aldosterone Signaling in Epithelial Cells0.47
    4Potassium Channels
    Potassium Channels0.43
    Voltage gated Potassium channels0.43
    5Hepatic ABC Transporters
    Hepatic ABC Transporters0.41
    MODY (Maturity-Onset Diabetes of Young)0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for KCNV2 (see all 13)
        Cholera Infection
    Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Hepatic ABC Transporters
    PKA Signaling
    Sweet Taste Signaling


    1 Reactome Pathway for KCNV2
        Voltage gated Potassium channels



    KCNV2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KCNV2
    Interactions:

        Search GeneGlobe Interaction Network for KCNV2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for KCNV2 (Q8TDN23 ENSP000003715144) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KCNB1Q147213, ENSP000003608064I2D: score=2 STRING: ENSP00000360806
    KCNC1P485473, ENSP000002659694I2D: score=1 STRING: ENSP00000265969
    KCNF1Q9H3M03, ENSP000002950824I2D: score=2 STRING: ENSP00000295082
    KCNA10ENSP000003587864STRING: ENSP00000358786
    KCNA2ENSP000003145204STRING: ENSP00000314520
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport ----
    GO:0007268synaptic transmission TAS--
    GO:0051260protein homooligomerization IEA--
    GO:0055085transmembrane transport ----

    KCNV2 for ontologies           About GeneDecksing



    (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 drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for KCNV2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ICA 110381KV7.2/7.3 activator; displays anticonvulsant properties[325457-99-6]
    XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
    JNJ 303Potent and selective IKs blocker[878489-28-2]
    E-4031 dihydrochlorideKV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr)[113559-13-0]
    ShK-Dap22Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro[220384-25-8]



    (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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    REFSEQ mRNAs for KCNV2 gene: 
    NM_133497.3  

    Unigene Cluster for KCNV2:

    Potassium channel, subfamily V, member 2
    Hs.622675  [show with all ESTs]
    Unigene Representative Sequence: NM_133497
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000382082(uc003zho.2)
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    Additional mRNA sequence: 

    AF348983.1 BC101352.1 BC101353.2 

    1 DOTS entry:

    DT.97778899 

    Selected AceView cDNA sequences (see all 25):

    BM661954 BM709887 AI206888 AI636744 BQ638061 NM_133497 AI700035 BQ639026 
    BM685388 BM689881 BQ638199 BX116386 BU734252 BQ638863 BQ636124 AF348983 
    BU728849 AI825525 BQ639959 BQ640692 CD636316 BF509061 BQ637800 W27668 

    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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    KCNV2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KCNV2 Expression
    About this image

    KCNV2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KCNV2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.622675

    UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2
    Tissue specificity: Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KCNV2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kcnv21 , 5 potassium channel, subfamily V, member 21, 5 83.95(n)1
    82.9(a)1
      19 (21.88 cM)5
    2405951  NM_183179.11  NP_899002.11 
     273225885 
    chicken
    (Gallus gallus)
    Aves KCNV21 potassium channel, subfamily V, member 2 74.18(n)
    73.33(a)
      431642  XM_429194.3  XP_429194.3 
    lizard
    (Anolis carolinensis)
    Reptilia KCNV26
    potassium channel, subfamily V, member 2
    64(a)
    1 ↔ 1
    2(51206366-51219100)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia kcnv21 potassium channel, subfamily V, member 2 63.34(n)
    69.41(a)
      100498412  XM_002934184.1  XP_002934230.1 
    zebrafish
    (Danio rerio)
    Actinopterygii kcnv2a1 potassium channel, subfamily V, member 2a 63.33(n)
    65.43(a)
      567267  XM_690558.6  XP_695650.4 


    ENSEMBL Gene Tree for KCNV2 (if available)
    TreeFam Gene Tree for KCNV2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KCNV2 gene
    KCNF12  KCNG32  KCNB22  KCNV12  KCNG22  KCNS22  KCNS32  KCNB12  
    KCNG42  KCNG12  KCNS12  
    13 SIMAP similar genes for KCNV2 using alignment to 1 protein entry:     KCNV2_HUMAN:
    KCNB1    KCNB2    KCNS3    KCNV1    KCNF1    KCNG2
    KCNS2    KCNS1    KCNG1    KCNG4    KCNG3    KCNA1
    KCNC1

    KCNV2 for paralogs           About GeneDecksing



    (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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    Selected SNPs for KCNV2 (see all 589)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0276374
    Cone dystrophy retinal 3B (RCD3B)4--see VAR_0276372 G D mis40--------
    VAR_0276354
    Cone dystrophy retinal 3B (RCD3B)4--see VAR_0276352 A V mis40--------
    VAR_0276324
    Cone dystrophy retinal 3B (RCD3B)4--see VAR_0276322 L Q mis40--------
    VAR_0276344
    Cone dystrophy retinal 3B (RCD3B)4--see VAR_0276342 S W mis40--------
    VAR_0276334
    Cone dystrophy retinal 3B (RCD3B)4--see VAR_0276332 W C mis40--------
    rs1048941131,2
    Cpathogenic12713527(+) ACTACG/TAGGAG 2 E * stg10--------
    rs1048941161,2
    Cpathogenic12713867(+) CTCCTC/GGGTGG 2 S W mis10--------
    rs1048941141,2
    Cpathogenic12714016(+) ACGTGG/TAGATG 2 E * stg10--------
    rs1048941151,2
    Cpathogenic12724826(+) CGTGGA/GCTACG 2 D G mis10--------
    rs753165051,2
    C,Funtested12713099(+) CGCAGC/TCATGC 1 -- ut512Minor allele frequency- T:0.00WA NA 4664

    HapMap Linkage Disequilibrium report for KCNV2 (2717502 - 2730037 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for KCNV2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv892079CNV Gain21882294
    nsv892080CNV Gain21882294
    dgv8011n71CNV Gain21882294
    nsv516425CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): KCNV2
    Site Specific Mutation Identification with PCR Assays
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    (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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    OMIM gene information: 607604   
    OMIM disorders: 610356  
    UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2
  • Cone dystrophy retinal 3B (RCD3B) [MIM:610356]: A rare form of cone dystrophy associated with supernormal
    rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and
    abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more
    obvious areas of atrophy. Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for KCNV2 (see all 25):    
    About MalaCards
    retinal cone dystrophy 3b    retinal cone dystrophy 3    retinoschisis    esotropia
    exotropia    cone dystrophy 3    cone dystrophy    achromatopsia
    congenital nystagmus    fundus dystrophy    fainting    cone-rod dystrophy
    maturity-onset diabetes of the young    night blindness    blindness    cholera
    retinitis    neuronitis    obesity    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for KCNV2:
    cone-rod dystrophy

    KCNV2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): KCNV2

    Export disorders for KCNV2 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 KCNV2 gene, integrated from 10 sources (see all 28):
    (articles sorted by number of sources associating them with KCNV2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome. (PubMed id 12060745)1, 2, 3 Ottschytsch N.... Snyders D.J. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    2. Genome-wide association analysis of age-at-onset in Alzheimer's disease. (PubMed id 22005931)1, 4 Kamboh M.I....Lopez O.L. (Mol. Psychiatry 2012)
    3. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause 'cone dystrophy with supernormal rod electroretinogram' in humans. (PubMed id 16909397)1, 2 Wu H.... Webster A.R. (Am. J. Hum. Genet. 2006)
    4. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (Pharmacol. Rev. 2005)
    5. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Phenotypic characteristics including in vivo cone photoreceptor mosaic in KCNV2-related &quot;cone dystrophy with supernormal rod electroretinogram&quot;. (PubMed id 23221069)1 Vincent A....HAcon E. (amp 2013)
    8. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. (PubMed id 23725738)1 Zelinger L....Banin E. (Ophthalmology 2013)
    9. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. (PubMed id 23720494)1 Evans D.M....Whitfield J.B. (Hum. Mol. Genet. 2013)
    10. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. (PubMed id 23885164)1 Fujinami K....Miyake Y. (Mol. Vis. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 169522 HGNC: 19698 AceView: KCNV2 Ensembl:ENSG00000168263 euGenes: HUgn169522
    ECgene: KCNV2 H-InvDB: KCNV2

    (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 KCNV2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KCNV2 gene:
    Search GeneIP for patents involving KCNV2

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



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