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FLASH GENE
Symbol KCNV2 contributors: mct - updated : 20-01-2020
HGNC name potassium channel, subfamily V, member 2
HGNC id 19698
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
Visualeyeretina    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervouscentral  highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervouspyramidal cell Homo sapiens
Visualcone photoreceptor Homo sapiens
Visualrod photoreceptor Homo sapiens
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
  • KCNV2 channel subunits only form functional channels when combined in a heterotetramer with Kv2.1 subunits encoded by the KCNB1 gene
  • 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