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Aliases for KCNV2 Gene

Aliases for KCNV2 Gene

  • Potassium Channel, Voltage Gated Modifier Subfamily V, Member 2 2 3
  • Voltage-Gated Potassium Channel Subunit Kv8.2 3 4
  • Potassium Channel, Subfamily V, Member 2 2 3
  • KV11.1 3 6
  • RCD3B 3 6
  • Potassium Voltage-Gated Channel Subfamily V Member 2 3
  • Kv8.2 3

External Ids for KCNV2 Gene

Summaries for KCNV2 Gene

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, Voltage Gated Modifier Subfamily V, Member 2) is a Protein Coding gene. Diseases associated with KCNV2 include retinal cone dystrophy 3b and cone dystrophy with supernormal rod response. Among its related pathways are Activation of cAMP-Dependent PKA and Activation of cAMP-Dependent PKA. GO annotations related to this gene include delayed rectifier potassium channel activity. An important paralog of this gene is KCNB2.

UniProtKB/Swiss-Prot for KCNV2 Gene

  • Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximal activation to more negative values

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KCNV2 Gene

Genomics for KCNV2 Gene

Genomic Location for KCNV2 Gene

Start:
2,717,502 bp from pter
End:
2,730,037 bp from pter
Size:
12,536 bases
Orientation:
Plus strand

Genomic View for KCNV2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KCNV2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KCNV2 Gene

Regulatory Elements for KCNV2 Gene

Proteins for KCNV2 Gene

  • Protein details for KCNV2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDN2-KCNV2_HUMAN
    Recommended name:
    Potassium voltage-gated channel subfamily V member 2
    Protein Accession:
    Q8TDN2
    Secondary Accessions:
    • Q5T6X0

    Protein attributes for KCNV2 Gene

    Size:
    545 amino acids
    Molecular mass:
    62459 Da
    Quaternary structure:
    • Heteromultimer with KCNB1, KCNC1 and KCNF1. Does not form homomultimers.

neXtProt entry for KCNV2 Gene

Proteomics data for KCNV2 Gene at MOPED

Post-translational modifications for KCNV2 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn440

Other Protein References for KCNV2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNV2 Gene

Domains for KCNV2 Gene

Gene Families for KCNV2 Gene

HGNC:
  • KCN :Potassium channels
  • Kv :Voltage-gated ion channels / Potassium channels
IUPHAR :

UniProtKB/Swiss-Prot:

KCNV2_HUMAN
Domain:
  • The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged amino acids at every third position:
    • Q8TDN2
Family:
  • Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily.:
    • Q8TDN2
genes like me logo Genes that share domains with KCNV2: view

Function for KCNV2 Gene

Molecular function for KCNV2 Gene

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

Gene Ontology (GO) - Molecular Function for KCNV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity --
GO:0005251 delayed rectifier potassium channel activity IBA --
genes like me logo Genes that share ontologies with KCNV2: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KCNV2 Gene

Localization for KCNV2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KCNV2 Gene

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
Jensen Localization Image for KCNV2 Gene COMPARTMENTS Subcellular localization image for KCNV2 gene
Compartment Confidence
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for KCNV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0008076 voltage-gated potassium channel complex IEA --
GO:0016020 membrane --
GO:0016021 integral component of membrane IBA --
genes like me logo Genes that share ontologies with KCNV2: view

Pathways for KCNV2 Gene

genes like me logo Genes that share pathways with KCNV2: view

Gene Ontology (GO) - Biological Process for KCNV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport --
GO:0007268 synaptic transmission TAS --
GO:0034765 regulation of ion transmembrane transport IEA --
GO:0051260 protein homooligomerization IEA --
GO:0055085 transmembrane transport --
genes like me logo Genes that share ontologies with KCNV2: view

Compounds for KCNV2 Gene

(5) Tocris Compounds for KCNV2 Gene

Compound Action Cas Number
E-4031 dihydrochloride KV11.1 (hERG) channel blocker; inhibits rapid delayed rectifier K+ current (IKr) [113559-13-0]
ICA 110381 KV7.2/7.3 activator; displays anticonvulsant properties [325457-99-6]
JNJ 303 Potent and selective IKs blocker [878489-28-2]
ShK-Dap22 Extremely potent and selective KV1.3 blocker; suppresses T cell activation in vitro [220384-25-8]
XE 991 dihydrochloride Potent, selective KV7 (KCNQ) channel blocker; blocks M-current [122955-42-4]
genes like me logo Genes that share compounds with KCNV2: view

Transcripts for KCNV2 Gene

mRNA/cDNA for KCNV2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(25) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KCNV2 Gene

Potassium channel, subfamily V, member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KCNV2 Gene

No ASD Table

Relevant External Links for KCNV2 Gene

GeneLoc Exon Structure for
KCNV2
ECgene alternative splicing isoforms for
KCNV2

Expression for KCNV2 Gene

mRNA expression in normal human tissues for KCNV2 Gene

mRNA differential expression in normal tissues according to GTEx for KCNV2 Gene

This gene is overexpressed in Testis (22.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KCNV2 Gene

SOURCE GeneReport for Unigene cluster for KCNV2 Gene Hs.622675

mRNA Expression by UniProt/SwissProt for KCNV2 Gene

Q8TDN2-KCNV2_HUMAN
Tissue specificity: Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon.
genes like me logo Genes that share expressions with KCNV2: view

Orthologs for KCNV2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KCNV2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KCNV2 36
  • 96.45 (n)
  • 94.68 (a)
KCNV2 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNV2 36
  • 85.73 (n)
  • 84.5 (a)
KCNV2 37
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KCNV2 36
  • 87.73 (n)
  • 84.49 (a)
KCNV2 37
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnv2 36
  • 83.95 (n)
  • 82.9 (a)
Kcnv2 16
Kcnv2 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNV2 37
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNV2 37
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnv2 36
  • 84.79 (n)
  • 84.54 (a)
chicken
(Gallus gallus)
Aves KCNV2 36
  • 74.18 (n)
  • 73.33 (a)
KCNV2 37
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNV2 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnv2 36
  • 63.34 (n)
  • 69.41 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnv2a 36
  • 63.33 (n)
  • 65.43 (a)
kcnv2a 37
  • 60 (a)
OneToMany
kcnv2b 37
  • 56 (a)
OneToMany
Species with no ortholog for KCNV2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for KCNV2 Gene

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

Paralogs for KCNV2 Gene

Paralogs for KCNV2 Gene

Selected SIMAP similar genes for KCNV2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with KCNV2: view

Variants for KCNV2 Gene

Sequence variations from dbSNP and Humsavar for KCNV2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs897166 -- 2,728,358(+) GACCA(A/C)CAGCT intron-variant
rs1006698 -- 2,725,283(-) CAGGA(G/T)AATAA intron-variant
rs1007021 -- 2,723,657(+) TCTTT(A/G)TCACA intron-variant
rs1007022 -- 2,723,761(+) ACATA(A/C)GAGAA intron-variant
rs1026355 -- 2,722,884(+) ATGTC(C/G)ATGGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KCNV2 Gene

Variant ID Type Subtype PubMed ID
nsv892079 CNV Gain 21882294
nsv516425 CNV Gain+Loss 19592680
nsv892080 CNV Gain 21882294
dgv8011n71 CNV Gain 21882294

Relevant External Links for KCNV2 Gene

HapMap Linkage Disequilibrium report
KCNV2
Human Gene Mutation Database (HGMD)
KCNV2

Disorders for KCNV2 Gene

(1) OMIM Diseases for KCNV2 Gene (607604)

UniProtKB/Swiss-Prot

KCNV2_HUMAN
  • 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. {ECO:0000269 PubMed:16909397}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for KCNV2 Gene

Relevant External Links for KCNV2

Genetic Association Database (GAD)
KCNV2
genes like me logo Genes that share disorders with KCNV2: view

Publications for KCNV2 Gene

  1. Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome. (PMID: 12060745) Ottschytsch N. … Snyders D.J. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels. (PMID: 16382104) Gutman G.A. … Wang X. (Pharmacol. Rev. 2005) 2 3
  5. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause 'cone dystrophy with supernormal rod electroretinogram' in humans. (PMID: 16909397) Wu H. … Webster A.R. (Am. J. Hum. Genet. 2006) 3 4

Products for KCNV2 Gene

Sources for KCNV2 Gene

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