Free for academic non-profit institutions. Other users need a Commercial license

Aliases for KCNV2 Gene

Aliases for KCNV2 Gene

  • Potassium Voltage-Gated Channel Modifier Subfamily V Member 2 2 3
  • Potassium Channel, Voltage Gated Modifier Subfamily V, Member 2 2 3 5
  • Voltage-Gated Potassium Channel Subunit Kv8.2 3 4
  • Potassium Channel, Subfamily V, Member 2 2 3
  • Kv11.1 3
  • Kv8.2 3
  • RCD3B 3

External Ids for KCNV2 Gene

Previous GeneCards Identifiers for KCNV2 Gene

  • GC09P002699
  • GC09P002707
  • GC09P002705

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 Voltage-Gated Channel 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 Transmission across Chemical Synapses and Hepatic ABC Transporters. GO annotations related to this gene include ion channel activity and delayed rectifier potassium channel activity. An important paralog of this gene is KCNB1.

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 alpha-subunits contain a single pore-forming region and combine to form tetramers.

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

Regulatory Elements for KCNV2 Gene

Genomic Location for KCNV2 Gene

Chromosome:
9
Start:
2,717,239 bp from pter
End:
2,730,037 bp from pter
Size:
12,799 bases
Orientation:
Plus strand

Genomic View for KCNV2 Gene

Genes around KCNV2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KCNV2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KCNV2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 440
  • Modification sites at PhosphoSitePlus

Other Protein References for KCNV2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KCNV2 Gene

Domains & Families for KCNV2 Gene

Gene Families for KCNV2 Gene

Suggested Antigen Peptide Sequences for KCNV2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TDN2

UniProtKB/Swiss-Prot:

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

Human Phenotype Ontology for KCNV2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KCNV2 Gene

MGI Knock Outs for KCNV2:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets 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
vacuole 1

Gene Ontology (GO) - Cellular Components for KCNV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KCNV2: view

Pathways & Interactions 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 IEA --
GO:0055085 transmembrane transport IEA --
GO:0071805 potassium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with KCNV2: view

No data available for SIGNOR curated interactions for KCNV2 Gene

Drugs & Compounds for KCNV2 Gene

(1) Drugs for KCNV2 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Flupirtine maleate Pharma KV7 channel activator 0

(4) Additional Compounds for KCNV2 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
L-364,373
103342-82-1
NS 1643
448895-37-2
NS 5806
426834-69-7
PD 118057
313674-97-4
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:

Inhibitory RNA Products

Flow Cytometry Products

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 (x22.3).

Protein differential expression in normal tissues from HIPED for KCNV2 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with KCNV2: view

Protein tissue co-expression partners for KCNV2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for KCNV2 Gene

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 35
  • 96.45 (n)
  • 94.68 (a)
KCNV2 36
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KCNV2 36
  • 81 (a)
OneToOne
KCNV2 35
  • 85.73 (n)
  • 84.5 (a)
dog
(Canis familiaris)
Mammalia KCNV2 35
  • 87.73 (n)
  • 84.49 (a)
KCNV2 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Kcnv2 16
Kcnv2 35
  • 83.95 (n)
  • 82.9 (a)
Kcnv2 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KCNV2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KCNV2 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Kcnv2 35
  • 84.79 (n)
  • 84.54 (a)
chicken
(Gallus gallus)
Aves KCNV2 35
  • 74.18 (n)
  • 73.33 (a)
KCNV2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KCNV2 36
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia kcnv2 35
  • 63.34 (n)
  • 69.41 (a)
zebrafish
(Danio rerio)
Actinopterygii kcnv2a 36
  • 60 (a)
OneToMany
kcnv2b 36
  • 56 (a)
OneToMany
kcnv2a 35
  • 63.33 (n)
  • 65.43 (a)
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

(13) 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
VAR_027632 Cone dystrophy retinal 3B (RCD3B)
VAR_027633 Cone dystrophy retinal 3B (RCD3B)
VAR_027634 Cone dystrophy retinal 3B (RCD3B)
VAR_027635 Cone dystrophy retinal 3B (RCD3B)
VAR_027637 Cone dystrophy retinal 3B (RCD3B)

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

Variation tolerance for KCNV2 Gene

Residual Variation Intolerance Score: 62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.49; 71.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KCNV2 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KCNV2 Gene

Disorders for KCNV2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for KCNV2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
retinal cone dystrophy 3b
  • cone dystrophy with night blindness and supernormal rod responses kcnv2 related
cone dystrophy with supernormal rod response
  • cone dystrophy with supernormal rod erg
immunodeficiency 13
  • icl
cone dystrophy
  • retinal cone dystrophy
spinocerebellar ataxia 40
  • spinocerebellar ataxia type 40
- elite association - COSMIC cancer census association via MalaCards
Search KCNV2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for KCNV2

Genetic Association Database (GAD)
KCNV2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KCNV2
genes like me logo Genes that share disorders with KCNV2: view

No data available for Genatlas for KCNV2 Gene

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 67
  2. 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
  3. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. (PMID: 23720494) Evans D.M. … Whitfield J.B. (Hum. Mol. Genet. 2013) 3
  4. Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. (PMID: 23725738) Zelinger L. … Banin E. (Ophthalmology 2013) 3
  5. Molecular characteristics of four Japanese cases with KCNV2 retinopathy: report of novel disease-causing variants. (PMID: 23885164) Fujinami K. … Miyake Y. (Mol. Vis. 2013) 3

Products for KCNV2 Gene

Sources for KCNV2 Gene

Back to Top

Content