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Kv8.2

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Target not currently curated in GtoImmuPdb

Target id: 566

Nomenclature: Kv8.2

Family: Voltage-gated potassium channels (Kv)

Contents:

Gene and Protein Information Click here for help
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 6 1 545 9p24.2 KCNV2 potassium voltage-gated channel modifier subfamily V member 2
Mouse 6 1 562 19 C1 Kcnv2 potassium channel, subfamily V, member 2
Rat 6 1 561 1q51 Kcnv2 potassium voltage-gated channel modifier subfamily V member 2
Previous and Unofficial Names Click here for help
kv11.1 | KV11.1 | potassium channel, voltage gated modifier subfamily V, member 2 | potassium channel, voltage-gated modifier subfamily V, member 2 | potassium channel
Database Links Click here for help
Alphafold Q8TDN2 (Hs), Q8CFS6 (Mm)
Ensembl Gene ENSG00000168263 (Hs), ENSMUSG00000047298 (Mm), ENSRNOG00000012566 (Rn)
Entrez Gene 169522 (Hs), 240595 (Mm), 294065 (Rn)
Human Protein Atlas ENSG00000168263 (Hs)
KEGG Gene hsa:169522 (Hs), mmu:240595 (Mm), rno:294065 (Rn)
OMIM 607604 (Hs)
Orphanet ORPHA159360 (Hs)
Pharos Q8TDN2 (Hs)
RefSeq Nucleotide NM_133497 (Hs), NM_183179 (Mm), NM_001106370 (Rn)
RefSeq Protein NP_598004 (Hs), NP_899002 (Mm), NP_001099840 (Rn)
UniProtKB Q8TDN2 (Hs), Q8CFS6 (Mm)
Wikipedia KCNV2 (Hs)
Associated Proteins Click here for help
Heteromeric Pore-forming Subunits
Name References
Kv2.1 4
Kv2.2 4
Auxiliary Subunits
Name References
Not determined
Other Associated Proteins
Name References
Not determined
Ion Selectivity and Conductance Comments
Kv8.2 is not functional on its own but modulates coexpressed Kv2 channels.
Tissue Distribution Click here for help
Pancreas, testis > lung, liver, kidney, spleen, thymus, prostate, ovary
Species:  Human
Technique:  RT-PCR
References:  4
Functional Assays Click here for help
Molecular clone, electrophysiology, voltage clamp
Species:  Human
Tissue:  Xenopus laevis oocytes
Response measured:  No expression of K+ currents, modulates Kv2.1 currents
References:  1,4
Molecular clone, electrophysiology, voltage clamp
Species:  Human
Tissue:  HEK293 cells
Response measured:  No expression of K+ currents, modulate Kv2.1 currents
References:  5
Physiological Functions Click here for help
Regulation of membrane potential and action potential frequency by modulation of delayed rectifier potassium currents. Kv8.2 modulates the activity of Kv2.1channels by causing small changes in activationthreshold and kinetics and in C-type activation.
Species:  Human
Tissue:  Pulmonary artery smooth muscle cells (PASMC)
References:  1,4
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Epilepsy
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Missense Human R7K Suppress Kv2.1 current 3
Missense Human M285R Suppress Kv2.1 current 3
Disease:  Retinal cone dystrophy 3B; RCD3B
Synonyms: Cone dystrophy with supernormal rod response [Orphanet: ORPHA209932]
OMIM: 610356
Orphanet: ORPHA209932
References:  8
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Frameshift: Deletion Human K3RfsX95 8_11del4 This mutation was seen in compound heterozygousity with the 9-bp in-frame deletion. 7
Frameshift: Deletion/Insertion Human R7HfsX5 19_1356+9571delinsCATTTG This mutation encompasses exon 1 of the KCNV2 gene and causes a severely truncated protein 7
Frameshift: Insertion Human K120fsX371 c.357_358insC Exon 1 6
In-frame deletion Human D339-V341del 1015_1024delACCTGGTGG In region S3 of the protein. This mutation was seen in compound heterozygousity with the 4-bp deletion in exon 1. 6-8
Missense Human L126Q Fail to assemble with co-expressed Kv2.1 5
Missense Human F164S 7
Missense Human W188C Fail to assemble with co-expressed Kv2.1 5
Missense Human S256W 8
Missense Human G459D 8
Missense Human G461R 6-7
Missense Human G478R Suppress function of coexpressed Kv2.1 5
Nonsense Human Q76X 6
Nonsense Human E143X 8
Nonsense Human E148X 6-7
Nonsense Human E306X 8
Splice site Human W450G Suppress function of coexpressed Kv2.1 5
Gene Expression and Pathophysiology Click here for help
A decrease in mRNA transcription.
Tissue or cell type:  Normal pulmonary artery smooth muscle cells (PASMC)
Pathophysiology:  Bone morphogenetic proteins (BMP's) significantly downregulated ( > 10-fold) KCNV2.
Species:  Human
Technique:  RT-PCR
References:  2
Seizure susceptibility
Tissue or cell type:  Brain neurons
Pathophysiology:  Increase in expression associated with severe seizures
Species:  Mouse
Technique: 
References:  3
Biologically Significant Variant Comments
A total of 589 SNPs have been identified in human KCNV2. For more information see the entry on GeneCards.
General Comments
Kv8.2 has no function on its own, but it has important modulatory actions on Kv2 channels.

References

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1. Czirják G, Tóth ZE, Enyedi P. (2007) Characterization of the heteromeric potassium channel formed by kv2.1 and the retinal subunit kv8.2 in Xenopus oocytes. J Neurophysiol, 98 (3): 1213-22. [PMID:17652418]

2. Fantozzi I, Platoshyn O, Wong AH, Zhang S, Remillard CV, Furtado MR, Petrauskene OV, Yuan JX. (2006) Bone morphogenetic protein-2 upregulates expression and function of voltage-gated K+ channels in human pulmonary artery smooth muscle cells. Am J Physiol Lung Cell Mol Physiol, 291 (5): L993-1004. [PMID:16815889]

3. Jorge BS, Campbell CM, Miller AR, Rutter ED, Gurnett CA, Vanoye CG, George Jr AL, Kearney JA. (2011) Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility. Proc Natl Acad Sci USA, 108 (13): 5443-8. [PMID:21402906]

4. Ottschytsch N, Raes A, Van Hoorick D, Snyders DJ. (2002) Obligatory heterotetramerization of three previously uncharacterized Kv channel alpha-subunits identified in the human genome. Proc Natl Acad Sci USA, 99 (12): 7986-91. [PMID:12060745]

5. Smith KE, Wilkie SE, Tebbs-Warner JT, Jarvis BJ, Gallasch L, Stocker M, Hunt DM. (2012) Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram. J Biol Chem, 287 (52): 43972-83. [PMID:23115240]

6. Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T et al.. (2008) Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci, 49 (2): 751-7. [PMID:18235024]

7. Wissinger B, Schaich S, Baumann B, Bonin M, Jägle H, Friedburg C, Varsányi B, Hoyng CB, Dollfus H, Heckenlively JR et al.. (2011) Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat, 32 (12): 1398-406. [PMID:21882291]

8. Wu H, Cowing JA, Michaelides M, Wilkie SE, Jeffery G, Jenkins SA, Mester V, Bird AC, Robson AG, Holder GE, Moore AT, Hunt DM, Webster AR. (2006) Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans. Am J Hum Genet, 79 (3): 574-9. [PMID:16909397]

Contributors

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