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FLASH GENE
Symbol KCNV2 contributors: mct - updated : 30-09-2013
HGNC name potassium channel, subfamily V, member 2
HGNC id 19698
Corresponding disease
RCD5 retinal cone dystrophy 5
Location 9p24.2      Physical location : 2.717.525 - 2.729.757
Synonym name voltage-gated potassium channel Kv8.2
Synonym symbol(s) HS-154131, KV11.1, Kv8.2, RCD3B
DNA
TYPE functioning gene
STRUCTURE 12.23 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure
  • two CRX binding sites (CBS) and one NRL binding site (NBS) in the KCNV2 promoter
  • MAPPING cloned Y linked N status provisional
    Physical map
    LOC392406 9 similar to hypothetical protein LOC392411 9 similar to paranemin LOC389827 9 similar to RIKEN cDNA 1110002H13 C9orf66 9p24.3 chromosome 9 open reading frame 66 LOC392413 9 similar to MGC43306 protein LOC389701 9 similar to Dedicator of cytokinesis protein 6 DOCK8 9p24.3 dedicator of cytokinesis 8 ANKRD15 9p24.3-p24.1 ankyrin repeat domain 15 DMRT1 9p24.3 doublesex and mab-3 related transcription factor 1 DMRT3 9p24.3 doublesex and mab-3 related transcription factor 3 LOC389702 9 LOC389702 DMRT2 9p24.3 doublesex and mab-3 related transcription factor 2 SMARCA2 9p24.1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 LOC389703 9 LOC389703 VLDLR 9p24 very low density lipoprotein receptor KCNV2 9p24-p22 potassium channel, subfamily V, member 2 KIAA0020 9p24.2 KIAA0020 LOC392281 9 similar to G protein pathway suppressor 2 LOC138234 9p24.2 ATP synthase, H+ transporting, mitochondrial F0 complex, subunit d pseudogene CARM1L 9p24.2 coactivator associated arginine methyltransferase 1-like RFX3 9p24 regulatory factor X, 3 (influences HLA class II expression) ZNF515 9p24.2 zinc finger protein 515 C9orf70 9p24.2 chromosome 9 open reading frame 70 SLC1A1 9p24 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 C9orf68 9p24.2 chromosome 9 open reading frame 68 HARC 9p24.1 chromosome 9 open reading frame 68 AK3L1 9p24.1-p24.3 adenylate kinase 3 like 1 LOC392282 9 similar to ribosomal protein S5 RCL1 9p24.1-p23 RNA terminal phosphate cyclase-like 1 JAK2 9p24 Janus kinase 2 (a protein tyrosine kinase) INSL6 9p24 insulin-like 6 INSL4 9p24.1-p23.3 insulin-like 4 (placenta)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1882 - 545 - 2002 12060745
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Nervousbrain   highly Homo sapiens
     brainlimbic systemhippocampus highly Homo sapiens
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral  highly Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervouspyramidal cell Homo sapiens
    Visualcone photoreceptor
    Visualrod photoreceptor
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text in late embryos and pupae, in developing heart
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to rattus Kv9.3
    Homologene
    FAMILY
  • voltage-gated potassium channel family
  • V subfamily
  • Kv8.2/KCNV2 sub-subfamily
  • Kv2 family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • mediating the voltage-dependent potassium ion permeability of excitable membranes
  • implicated as a genetic modifier of epilepsy
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text ion transport protein
    PATHWAY
    metabolism
    signaling
    a component can form functional heterotetramers with Kv2 subunits and influence membrane translocation and channel properties
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • KCNV2 is controlled by cone-rod homeobox (CRX) and neural retina leucine zipper (NRL)
  • cell & other
    REGULATION
    repressed by BMP2 that significantly (>2-fold) downregulated mRNA expression of KCNV2 9)
    ASSOCIATED DISORDERS
    corresponding disease(s) RCD5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    could contribute to seizure susceptibility
    Susceptibility to epilepsy
    Variant & Polymorphism other
  • variants, R7K and M285R, enhancing KCNV2-mediated suppression of KCNB1 currents (these mutations would be predicted to decrease delayed rectifier potassium current in neurons, resulting in increased excitability under conditions of repetitive stimulation
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyepilepsy 
    therapeutic targets for improved treatment of human epilepsy
    ANIMAL & CELL MODELS