KCNC3

Summary

Gene Symbol: KCNC3
Description: potassium voltage-gated channel subfamily C member 3
Alias: KSHIIID, KV3.3, SCA13, potassium voltage-gated channel subfamily C member 3, Shaw-related voltage-gated potassium channel protein 3, potassium channel, voltage gated Shaw related subfamily C, member 3, potassium voltage-gated channel, Shaw-related subfamily, member 3, voltage-gated potassium channel protein KV3.3, voltage-gated potassium channel subunit Kv3.3
Species: human
Products:     KCNC3

Top Publications

  1. Waters M, Minassian N, Stevanin G, Figueroa K, Bannister J, Nolte D, et al. Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. Nat Genet. 2006;38:447-51 pubmed
    ..In a Filipino adult-onset ataxia pedigree, the causative gene maps to 19q13, overlapping the SCA13 disease locus described in a French pedigree with childhood-onset ataxia and cognitive delay...
  2. Gallego Iradi C, Bickford J, Khare S, Hall A, Nick J, Salmasinia D, et al. KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. Neurobiol Dis. 2014;71:270-9 pubmed publisher
    Spinocerebellar ataxia 13 (SCA13) is an autosomal dominant disease resulting from mutations in KCNC3 (Kv3.3), a voltage-gated potassium channel...
  3. Peng L, Wang C, Chen Z, Wang J, Tang B, Jiang H. Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population. Int J Neurosci. 2013;123:450-3 pubmed publisher
    ..of neurodegenerative disorders, among which SCA subtype 13 (SCA13) was found associated with mutations in the KCNC3 gene...
  4. Issa F, Mazzochi C, Mock A, Papazian D. Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish. J Neurosci. 2011;31:6831-41 pubmed publisher
    ..Mutations in the Kv3.3 voltage-gated K(+) channel cause spinocerebellar ataxia type 13 (SCA13), a human autosomal-dominant disease characterized by locomotor impairment and the death of cerebellar neurons...
  5. Minassian N, Lin M, Papazian D. Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13. J Physiol. 2012;590:1599-614 pubmed publisher
    Mutations in Kv3.3 cause spinocerebellar ataxia type 13 (SCA13)...
  6. Middlebrooks J, Nick H, Subramony S, Advincula J, Rosales R, Lee L, et al. Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms. PLoS ONE. 2013;8:e76749 pubmed publisher
    ..3 has been demonstrated in a large Filipino kindred manifesting as spinocerebellar ataxia type 13 (SCA13)...
  7. Herman Bert A, Stevanin G, Netter J, Rascol O, Brassat D, Calvas P, et al. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet. 2000;67:229-35 pubmed
    ..We performed a genomewide search and found significant evidence for linkage to chromosome 19q13.3-q13.4, in an approximately 8-cM interval between markers D19S219 and D19S553. ..
  8. Zhao J, Zhu J, Thornhill W. Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface. Biochem J. 2013;454:259-65 pubmed publisher
    The voltage-gated potassium channel Kv3.3 is the causative gene of SCA13 (spinocerebellar ataxia type 13), an autosomal dominant neurological disorder. The four dominant mutations identified to date cause Kv3...
  9. Figueroa K, Minassian N, Stevanin G, Waters M, Garibyan V, Forlani S, et al. KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients. Hum Mutat. 2010;31:191-6 pubmed publisher
    We recently identified KCNC3, encoding the Kv3.3 voltage-gated potassium channel, as the gene mutated in SCA13. One g.10684G>A (p...

More Information

Publications46

  1. Figueroa K, Waters M, Garibyan V, Bird T, Gomez C, Ranum L, et al. Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13). PLoS ONE. 2011;6:e17811 pubmed publisher
    Gain-of function or dominant-negative mutations in the voltage-gated potassium channel KCNC3 (Kv3.3) were recently identified as a cause of autosomal dominant spinocerebellar ataxia...
  2. Rae J, Shepard A. Kv3.3 potassium channels in lens epithelium and corneal endothelium. Exp Eye Res. 2000;70:339-48 pubmed publisher
    Human Kv3.3/KCNC3 is a Shaw-type potassium channel that has been mapped to chromosome 19q13.3-13.4. Complete mouse and rat Kv3.3 cDNA coding sequences have been published, yet the human Kv3.3 cDNA has remained incomplete for years...
  3. Waters M, Pulst S. Sca13. Cerebellum. 2008;7:165-9 pubmed publisher
    Spinocerebellar ataxia 13 (SCA13), initially described in a four-generation French family, has now also been characterized in a large Filipino pedigree...
  4. Issa F, Mock A, Sagasti A, Papazian D. Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development. Dis Model Mech. 2012;5:921-9 pubmed publisher
    Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominant disease caused by mutations in the Kv3.3 voltage-gated potassium (K(+)) channel...
  5. Namikawa K, Dorigo A, Zagrebelsky M, Russo G, Kirmann T, Fahr W, et al. Modeling neurodegenerative Spinocerebellar Ataxia type 13 in zebrafish using a Purkinje neuron specific tunable co-expression system. J Neurosci. 2019;: pubmed publisher
    ..Subsequently, we generated a transgenic SCA type 13 (SCA13) model, using a zebrafish-variant mimicking a human pathological SCA13R420H mutation, resulting in cell-..
  6. Mock A, RICHARDSON J, Hsieh J, Rinetti G, Papazian D. Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels. BMC Neurosci. 2010;11:99 pubmed publisher
    ..Mutations in human Kv3.3 cause spinocerebellar ataxia type 13 (SCA13), an autosomal dominant genetic disease that exists in distinct neurodevelopmental and neurodegenerative forms...
  7. Lalonde R, Strazielle C. Motor Performances of Spontaneous and Genetically Modified Mutants with Cerebellar Atrophy. Cerebellum. 2019;: pubmed publisher
    ..reported in SCA1 to 3, SCA5 to 8, SCA14, SCA17, and SCA27 and stationary beam deficits in SCA1 to 3, SCA5, SCA6, SCA13, SCA17, and SCA27...
  8. Gu Y, Servello D, Han Z, Lalchandani R, Ding J, Huang K, et al. Balanced Activity between Kv3 and Nav Channels Determines Fast-Spiking in Mammalian Central Neurons. iScience. 2018;9:120-137 pubmed publisher
    ..Therefore, FS is established by the properly balanced activities of Kv3 and Nav channels and could be further fine-tuned by channel biophysical features and localization patterns. ..
  9. Kang D, Wang J, Hogan J, Kim D. TASK-1 (K2P3) and TASK-3 (K2P9) in Rabbit Carotid Body Glomus Cells. Adv Exp Med Biol. 2018;1071:35-41 pubmed publisher
    ..Hypoxia (~0.5%O2) reduced TASK activity by ~52% and depolarized the cells by ~30 mV. Our results show that the O2-sensitive TASK contributes to the hypoxic response in rabbit glomus cells. ..
  10. Song M, Park S, Park J, Byun J, Jin H, Seo S, et al. Kv3.1 and Kv3.4, Are Involved in Cancer Cell Migration and Invasion. Int J Mol Sci. 2018;19: pubmed publisher
    ..Our data suggest that Kv3.1 and Kv3.4 might be new therapeutic targets for cancer metastasis. ..
  11. Hsieh J, Ulrich B, Issa F, Wan J, Papazian D. Rapid development of Purkinje cell excitability, functional cerebellar circuit, and afferent sensory input to cerebellum in zebrafish. Front Neural Circuits. 2014;8:147 pubmed publisher
  12. Papadopoulou A, Serneels L, Achsel T, Mandemakers W, Callaerts Vegh Z, Dooley J, et al. Deficiency of the miR-29a/b-1 cluster leads to ataxic features and cerebellar alterations in mice. Neurobiol Dis. 2015;73:275-88 pubmed publisher
    ..At the protein level, however, the voltage-gated potassium channel Kcnc3 (Kv3.3) was significantly up-regulated in the cerebella of the miR-29a/b knockout mice...
  13. Lu P, Chen X, Feng Y, Zeng Q, Jiang C, Zhu X, et al. Integrated transcriptome analysis of human iPS cells derived from a fragile X syndrome patient during neuronal differentiation. Sci China Life Sci. 2016;59:1093-1105 pubmed
    ..for neuronal differentiation (WNT1, BMP4, POU3F4, TFAP2C, and PAX3), down-regulation of potassium channels (KCNA1, KCNC3, KCNG2, KCNIP4, KCNJ3, KCNK9, and KCNT1) and altered temporal regulation of SHANK1 and NNAT in FXS-iPSC derived ..
  14. Coutelier M, Coarelli G, Monin M, Konop J, Davoine C, Tesson C, et al. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain. 2017;140:1579-1594 pubmed publisher
    ..3%). The most frequently mutated were channel genes [CACNA1A (n = 16), KCND3 (n = 4), KCNC3 (n = 2) and KCNA1 (n = 2)]. Deletions in ITPR1 (n = 11) were followed by biallelic variants in SPG7 (n = 9)...
  15. Abella J, Way M. Actin'g against the Ball and Chain. Dev Cell. 2016;37:11-12 pubmed publisher
    ..3 potassium channel. Recently in Cell, Zhang et al. (2016) provide new insights into how Arp2/3-dependent actin polymerization modulates both Kv3.3 activity and its ability to stimulate actin polymerization via Hax-1. ..
  16. Khare S, Galeano K, Zhang Y, Nick J, Nick H, Subramony S, et al. C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity. Cerebellum. 2018;17:692-697 pubmed publisher
    Mutations in the potassium channel gene KCNC3 (Kv3.3) cause the autosomal dominant neurological disease, spinocerebellar ataxia 13 (SCA13)...
  17. Montaut S, Apartis E, Chanson J, Ewenczyk C, Renaud M, Guissart C, et al. SCA13 causes dominantly inherited non-progressive myoclonus ataxia. Parkinsonism Relat Disord. 2017;38:80-84 pubmed publisher
    Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described...
  18. Torres Vega E, Duran Moreno M, Sánchez del Pino M, Yañez Y, Canete A, Castel V, et al. Immunoproteomic studies on paediatric opsoclonus-myoclonus associated with neuroblastoma. J Neuroimmunol. 2016;297:98-102 pubmed publisher
    ..3 (KCNC3), whose genetic disruption in mice causes ataxia and generalized muscle twitching...
  19. Barresi S, Niceta M, Alfieri P, Brankovic V, Piccini G, Bruselles A, et al. Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clin Genet. 2017;91:86-91 pubmed publisher
    ..and/or vermis atrophy in parallel with targeted next-generation sequencing of known ataxia genes (CACNA1A, ITPR1, KCNC3, ATP2B3 and GRM1) in 12 additional patients with a similar phenotype...
  20. Duarri A, Nibbeling E, Fokkens M, Meijer M, Boerrigter M, Verschuuren Bemelmans C, et al. Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases. PLoS ONE. 2015;10:e0116599 pubmed publisher
    Spinocerebellar ataxia type 13 (SCA13) is an autosomal dominantly inherited neurodegenerative disorder of the cerebellum caused by mutations in the voltage gated potassium channel KCNC3...
  21. Haas M, Ward D, Lee J, Roses A, Clarke V, D EUSTACHIO P, et al. Localization of Shaw-related K+ channel genes on mouse and human chromosomes. Mamm Genome. 1993;4:711-5 pubmed
    ..2) and KCNC3 (KShIIID, KV3.3) to Chromosome (Chr) 19q13.3-q13.4...
  22. Parolin Schnekenberg R, Perkins E, Miller J, Davies W, D Adamo M, Pessia M, et al. De novo point mutations in patients diagnosed with ataxic cerebral palsy. Brain. 2015;138:1817-32 pubmed publisher
    ..generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2. All the mutations were de novo and associated with increased paternal age...
  23. Subramony S, Advincula J, Perlman S, Rosales R, Lee L, Ashizawa T, et al. Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. Cerebellum. 2013;12:932-6 pubmed publisher
    ..However, a comprehensive phenotypic description has yet to be published on SCA13(p.Arg420His)...
  24. Dell Orco J, Pulst S, Shakkottai V. Potassium channel dysfunction underlies Purkinje neuron spiking abnormalities in spinocerebellar ataxia type 2. Hum Mol Genet. 2017;26:3935-3945 pubmed publisher
  25. Wang D, Youngson C, Wong V, Yeger H, Dinauer M, Vega Saenz Miera E, et al. NADPH-oxidase and a hydrogen peroxide-sensitive K+ channel may function as an oxygen sensor complex in airway chemoreceptors and small cell lung carcinoma cell lines. Proc Natl Acad Sci U S A. 1996;93:13182-7 pubmed
    ..Such a complex may represent an evolutionary conserved biochemical link for a membrane bound O2-signaling mechanism proposed for other cells and life forms. ..
  26. Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, et al. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol. 2004;61:727-33 pubmed
    ..In patients negative for defects in known SCA genes, repeat expansion detection data strongly suggest that, at least in our population, CAG/CTG expansions in novel genes should be considered an unlikely cause of the SCA phenotype. ..
  27. Khare S, Nick J, Zhang Y, Galeano K, Butler B, Khoshbouei H, et al. A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking. PLoS ONE. 2017;12:e0173565 pubmed publisher
    ..Our study focuses on SCA13, which is caused by several allelic variants in the voltage-gated potassium channel KCNC3 (Kv3.3). We detail the clinical phenotype of four SCA13 kindreds that confirm causation of the KCNC3R423H allele...
  28. Soggiu A, Piras C, Greco V, Devoto P, Urbani A, Calzetta L, et al. Exploring the neural mechanisms of finasteride: a proteomic analysis in the nucleus accumbens. Psychoneuroendocrinology. 2016;74:387-396 pubmed publisher
    ..coupled to mass spectrometry revealed significant changes in the expression of nine proteins (CRMP2, PSMD1, STX18, KCNC3, CYP255, GABRP, GABT, PRPS1, CYP2B3), which were further analyzed by ontological classification (PANTHER)...
  29. Song M, Choi S, Ryu P, Lee S. Voltage-Gated K+ Channel, Kv3.3 Is Involved in Hemin-Induced K562 Differentiation. PLoS ONE. 2016;11:e0148633 pubmed publisher
    ..3, appear to be associated with cell differentiation; therefore, understanding the mechanisms of Kv channel regulation of cell differentiation would provide important information regarding vital cellular processes. ..
  30. Sobue S, Inoue C, Hori F, Qiao S, Murate T, Ichihara M. Molecular hydrogen modulates gene expression via histone modification and induces the mitochondrial unfolded protein response. Biochem Biophys Res Commun. 2017;493:318-324 pubmed publisher
    ..RT-qPCR showed that H2 up-regulated expression of Kcnc3, a H3K27-regulated gene, in organs such as liver, lung, kidney and brain...
  31. Jukkola P, Gu Y, Lovett Racke A, Gu C. Suppression of Inflammatory Demyelinaton and Axon Degeneration through Inhibiting Kv3 Channels. Front Mol Neurosci. 2017;10:344 pubmed publisher
    ..Therefore, suppressing Kv3.1 alters neural circuit activity, which may enhance BNDF signaling and hence protect axons from inflammatory insults...
  32. Ghanshani S, Pak M, McPherson J, Strong M, Dethlefs B, Wasmuth J, et al. Genomic organization, nucleotide sequence, and cellular distribution of a Shaw-related potassium channel gene, Kv3.3, and mapping of Kv3.3 and Kv3.4 to human chromosomes 19 and 1. Genomics. 1992;12:190-6 pubmed
    ..Using probes derived from a human genomic clone containing the 3' exon of human Kv3.3 (KCNC3), we have localized the gene to human chromosome 19. The related gene, human Kv3...
  33. Stevanin G, Durr A. Spinocerebellar ataxia 13 and 25. Handb Clin Neurol. 2012;103:549-53 pubmed publisher
    ..The SCA13 locus was confirmed by the identification of a second kindred of Filipino ancestry...
  34. Zhang Y, Kaczmarek L. Kv3.3 potassium channels and spinocerebellar ataxia. J Physiol. 2016;594:4677-84 pubmed publisher
    ..Kv3.3 differs from other closely related channels in that human mutations in the gene encoding Kv3.3 (KCNC3) result in a unique neurodegenerative disease termed spinocerebellar ataxia type 13 (SCA13)...
  35. Zhang Y, Zhang X, Fleming M, Amiri A, El Hassar L, Surguchev A, et al. Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating. Cell. 2016;165:434-448 pubmed publisher
    Mutations in the Kv3.3 potassium channel (KCNC3) cause cerebellar neurodegeneration and impair auditory processing. The cytoplasmic C terminus of Kv3...
  36. De Paoli Iseppi R, Polanowski A, McMahon C, Deagle B, Dickinson J, Hindell M, et al. DNA methylation levels in candidate genes associated with chronological age in mammals are not conserved in a long-lived seabird. PLoS ONE. 2017;12:e0189181 pubmed publisher
    ..From blood samples, five of the top relationships with age were identified in KCNC3 loci (CpG66: R2 = 0.325, p = 0.019). In feather samples ELOVL2 (CpG42: R2 = 0.285, p = 0...