ENSG00000168263


Homo sapiens

Features
Gene ID: ENSG00000168263
  
Biological name :KCNV2
  
Synonyms : KCNV2 / potassium voltage-gated channel modifier subfamily V member 2 / Q8TDN2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 9
Strand: 1
Band: p24.2
Gene start: 2717502
Gene end: 2730037
  
Corresponding Affymetrix probe sets: 217522_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000371514
NCBI entrez gene - 169522     See in Manteia.
OMIM - 607604
RefSeq - NM_133497
RefSeq Peptide - NP_598004
swissprot - Q8TDN2
Ensembl - ENSG00000168263
  
Related genetic diseases (OMIM): 610356 - Retinal cone dystrophy 3B, 610356
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 kcnv2aENSDARG00000076644Danio rerio
 KCNV2ENSGALG00000010173Gallus gallus
 Kcnv2ENSMUSG00000047298Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
KCNB1 / Q14721 / potassium voltage-gated channel subfamily B member 1ENSG0000015844532
KCNV1 / Q6PIU1 / potassium voltage-gated channel modifier subfamily V member 1ENSG0000016479432
KCNB2 / Q92953 / potassium voltage-gated channel subfamily B member 2ENSG0000018267432
KCNS1 / Q96KK3 / potassium voltage-gated channel modifier subfamily S member 1ENSG0000012413432
KCNS3 / Q9BQ31 / potassium voltage-gated channel modifier subfamily S member 3ENSG0000017074531
KCNS2 / Q9ULS6 / potassium voltage-gated channel modifier subfamily S member 2ENSG0000015648630
KCNF1 / Q9H3M0 / potassium voltage-gated channel modifier subfamily F member 1ENSG0000016297528
KCNG1 / Q9UIX4 / potassium voltage-gated channel modifier subfamily G member 1ENSG0000002655928
KCNG4 / Q8TDN1 / potassium voltage-gated channel modifier subfamily G member 4ENSG0000016841827
KCNG3 / Q8TAE7 / potassium voltage-gated channel modifier subfamily G member 3ENSG0000017112625
KCNG2 / Q9UJ96 / potassium voltage-gated channel modifier subfamily G member 2ENSG0000017834224


Protein motifs (from Interpro)
Interpro ID Name
 IPR003131  Potassium channel tetramerisation-type BTB domain
 IPR003968  Potassium channel, voltage dependent, Kv
 IPR003971  Potassium channel, voltage dependent, Kv9
 IPR005821  Ion transport domain
 IPR011333  SKP1/BTB/POZ domain superfamily
 IPR028325  Voltage-gated potassium channel


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006813 potassium ion transport IEA
 biological_processGO:0034765 regulation of ion transmembrane transport IEA
 biological_processGO:0051260 protein homooligomerization IEA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0071805 potassium ion transmembrane transport IBA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0008076 voltage-gated potassium channel complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IBA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005244 voltage-gated ion channel activity IEA
 molecular_functionGO:0005249 voltage-gated potassium channel activity IBA
 molecular_functionGO:0005267 potassium channel activity IEA


Pathways (from Reactome)
Pathway description
Voltage gated Potassium channels


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000483 Astigmatism 
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0000545 Myopia 
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 HP:0000548 Cone-rod dystrophy 
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 HP:0000575 Scotoma "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:curators]
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000662 Night blindness 
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 HP:0000666 Nystagmus, horizontal 
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 HP:0007401 Primary noninflammatory macular atrophy 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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