KCNV2 Gene
protein-coding GIFtS: 51
GCID: GC09P002705
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|
potassium channel, subfamily V, member 2
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Aliases
for KCNV2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Potassium Channel, Subfamily V, Member 21 2 | | Kv8.21 2 | | Voltage-Gated Potassium Channel Subunit Kv8.22 3 | | KV11.12 5 | | RCD3B2 5 | | Potassium Voltage-Gated Channel Subfamily V Member 22 |
Export aliases for KCNV2 gene to outside databasesPrevious GC identifers: GC09P002699 GC09P002707 |
Summaries
for KCNV2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for KCNV2:
Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from bothfunctional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heartrate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cellvolume. 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. Thisprotein is strongly expressed in pancreas and has a weaker expression in several other tissues. (provided by RefSeq,Jul 2008)
UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2Function: Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximalactivation to more negative values
 summary
for KCNV2: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
|
Genomic Views
for KCNV2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008413.18
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the KCNV2 gene promoter:
LHX3b/Lhx3b AML1a Egr-1 Egr-4 Arnt MEF-2A HOXA5 LHX3a/Lhx3a Chx10 aMEF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for KCNV2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KCNV2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9p24.2 Ensembl cytogenetic band: 9p24.2 HGNC cytogenetic band: 9p24.2KCNV2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P002705: view genomic region
(about GC identifiers)
Start:
|
2,717,502 bp from pter |
End:
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2,730,037 bp from pter |
Size:
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12,536 bases |
Orientation:
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plus strand |
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Proteins
for KCNV2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2 (See
protein sequence)Recommended Name: Potassium voltage-gated channel subfamily V member 2 Size: 545 amino acids; 62459 Da
Subunit: Heteromultimer with KCNB1, KCNC1 and KCNF1. Does not form homomultimers
Subcellular location: Cell membrane; Multi-pass membrane protein. Note=Has to be associated with KCNB1 or possiblyanother partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1
Secondary accessions: Q5T6X0Explore the universe of human proteins at neXtProt for KCNV2: NX_Q8TDN2
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TDN2
KCNV2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_598004.1
ENSEMBL proteins: ENSP00000371514 Reactome Protein details: Q8TDN2
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005886 | plasma membrane |
TAS | -- | | GO:0008076 | voltage-gated potassium channel complex |
IEA | -- |
KCNV2 for ontologies About GeneDecksing
KCNV2 Antibody Products:
Assay Products for KCNV2: |
Protein
Domains /
Families
for KCNV2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KCNV2 for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q8TDN2ProtoNet protein and cluster: Q8TDN2 2 Blocks protein families: IPB003091 Potassium channel signature IPB003971 Kv9 potassium channel alpha subunit signature
UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2Domain: The segment S4 is probably the voltage-sensor and is characterized by a series of positively charged aminoacids at every third positionSimilarity: Belongs to the potassium channel family. V (TC 1.A.1.2) subfamily. Kv8.2/KCNV2 sub-subfamily |
Function
for KCNV2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2Function: Potassium channel subunit. Modulates channel activity by shifting the threshold and the half-maximalactivation to more negative values
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KCNV2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNV2 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005249 | voltage-gated potassium channel activity |
-- | -- | | GO:0005251 | delayed rectifier potassium channel activity |
IBA | -- |
KCNV2 for ontologies About GeneDecksing
|
Pathways & Interactions
for KCNV2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Sweet Taste Signaling | | | 2 | Activation of cAMP-Dependent PKA | | | 3 | Neuropathic Pain-Signaling in Dorsal Horn Neurons | | | 4 | Potassium Channels | | | 5 | Hepatic ABC Transporters | |
Pathway sources
See GeneCards unified pathways
Show all pathways
5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for KCNV2 (see all 13)
3 
Reactome Pathways for KCNV2
KCNV2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KCNV2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/41 Interacting proteins for KCNV2 (Q8TDN23 ENSP000003715144) via UniProtKB, MINT, STRING, and/or I2D (see all 41)About this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007268 | synaptic transmission |
TAS | -- | | GO:0051260 | protein homooligomerization |
IEA | -- |
KCNV2 for ontologies About GeneDecksing
|
Drugs & Compounds
for KCNV2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Compounds for KCNV2 available from Tocris Bioscience About this table
Search CenterWatch for drugs/clinical trials and news about KCNV2
|
Transcripts
for KCNV2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for KCNV2 gene: NM_133497.3 Unigene Clusters for KCNV2: Potassium channel, subfamily V, member 2 Hs.622675 [show with all ESTs], Hs.740173 Unigene Representative Sequences: NM_133497, AK3022151 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000382082(uc003zho.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KCNV2 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KCNV2
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: KCNV2 (NM_133497) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KCNV2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KCNV2 |
Additional cDNA sequence: AK302215.1 1 DOTS entry: DT.97778899 24/25 AceView cDNA sequences (see all 25): BM661954 BQ638061 AI636744 BM709887 BQ638199 NM_133497 AI700035 BM685388 AI206888 BQ639026 BX116386 BM689881 BQ638863 AF348983 AI825525 BU734252 BQ639959 BU728849 BQ636124 BQ640692 CD636316 BF509061 BQ637800 W27668
GeneLoc Exon Structure
|
Expression
for KCNV2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KCNV2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See KCNV2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KCNV2
SOURCE GeneReport for Unigene clusters: Hs.622675 Hs.740173
UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2Tissue specificity: Detected in lung, liver, kidney, pancreas, spleen, thymus, prostate, testis, ovary and colon
SABiosciences Custom PCR Arrays for KCNV2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KCNV2
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNV2 |
Orthologs
for KCNV2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for KCNV2 gene from 5/18 species (see all 18) About this table
ENSEMBL Gene Tree for KCNV2 (if available)
TreeFam Gene Tree for KCNV2 (if available) |
Paralogs
for KCNV2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for KCNV2 gene
- KCNG32 KCNF12 KCNB22 KCNV12 KCNG22 KCNS22 KCNS32 KCNB12
- KCNG42 KCNG12 KCNS12
13 SIMAP similar genes for KCNV2 using alignment to 1 protein entry: KCNV2_HUMAN:KCNB1 KCNB2 KCNS3 KCNV1 KCNF1 KCNG2
KCNS2 KCNS1 KCNG1 KCNG4 KCNG3 KCNA1
KCNC1
KCNV2 for paralogs About GeneDecksing
|
Genomic Variants
for KCNV2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for KCNV2 (2717502 - 2730037 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KCNV2: --
Human Gene Mutation Database (HGMD): KCNV2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KCNV2 |
|
Disorders
/ Diseases
for KCNV2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KCNV2 for disorders About GeneDecksing
OMIM gene information: 607604
OMIM disorders: 610356
UniProtKB/Swiss-Prot: KCNV2_HUMAN, Q8TDN2
Defects in KCNV2 are the cause of cone dystrophy retinal type 3B (RCD3B) [MIM:610356]; also called conedystrophy with night blindness and supernormal rod responses KCNV2-related. RCD3B is a rare form of cone dystrophyassociated 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
20/21  diseases for KCNV2 (see all 21): About MalaCardscone dystrophy 3 retinal cone dystrophy 3 retinal cone dystrophy 3b cone dystrophy
cone-rod dystrophy retinal cone dystrophy night blindness fundus dystrophy
congenital nystagmus exotropia esotropia achromatopsia
retinoschisis neuronitis fainting nystagmus
retinitis blindness pharyngitis cholesterol
1 disease from the University of Copenhagen DISEASES database for KCNV2:cone-rod dystrophy Export disorders for KCNV2 gene to outside databases
|
Publications
for KCNV2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for KCNV2 gene, integrated from 9 sources (see all 19):
(articles sorted by number of sources associating them with KCNV2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome. (PubMed id 12060745)1, 2, 3 Ottschytsch N.... Snyders D.J. (2002)
- Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause 'cone dystrophy with supernormal rod electroretinogram' in humans. (PubMed id 16909397)1, 2 Wu H.... Webster A.R. (2006)
- International Union of Pharmacology. LIII. Nomenclatu re and molecular relationships of voltage-gated potassium channels. (PubMed id 16382104)1, 3 Gutman G.A....Wang X. (2005)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Genome-wide association analysis of age-at-onset in Al zheimer's disease. (PubMed id 22005931)1 Kamboh M.I....Lopez O.L. (2012)
- 'Cone dystrophy with supranormal rod response' in chil dren. (PubMed id 21900228)1 Khan A.O....Alkuraya F.S. (2012)
- High-resolution optical coherence tomography imaging i n KCNV2 retinopathy. (PubMed id 21558291)1 Sergouniotis P.I....Moore A.T. (2012)
- Long-term follow-up of the human phenotype in three s iblings with cone dystrophy associated with a homozygous p.G461R mutation of KC NV2. (PubMed id 21911584)1 Friedburg C....Lorenz B. (2011)
- Identification of cis- and trans-acting genetic varia nts explaining up to half the variation in circulating vascular endothelial gro wth factor levels. (PubMed id 21757650)1 Debette S....Seshadri S. (2011)
|
External Searches for KCNV2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing KCNV2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KCNV2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KCNV2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for KCNV2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KCNV2 gene:
Search GeneIP for patents involving KCNV2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for KCNV2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | Tocris compounds for KCNV2 |
| |  |  |  |  | | | | |
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 | | | KCNV2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KCNV2 |
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