Property Summary

NCBI Gene PubMed Count 25
PubMed Score 57.14
PubTator Score 40.96

Knowledge Summary

Patent (2,281)

Expression

  Differential Expression (6)

Disease log2 FC p
ependymoma -1.400 9.3e-13
glioblastoma -1.400 3.7e-10
primitive neuroectodermal tumor -1.200 2.0e-06
pediatric high grade glioma -1.200 2.8e-06
pilocytic astrocytoma -1.200 8.4e-07
sonic hedgehog group medulloblastoma -1.300 5.6e-05

Gene RIF (17)

PMID Text
26997484 Kv3.3 regulates Arp2/3-dependent cortical actin nucleation mediated by Hax-1; resulting cortical actin structures interact with the channel's gating machinery to slow its inactivation rate during sustained membrane depolarizations; a mutation that leads to late-onset spinocerebellar ataxia type 13.
26849432 The Kv channels, or at least Kv3.3, appear to be associated with cell differentiation
25981959 investigated using either targeted next generation sequencing or trio-based exome sequencing and were found to have mutations in three different genes, KCNC3, ITPR1 and SPTBN2
25756792 Functional and in silico analysis identified at least one novel pathogenic mutation in KCNC3 that cause Spinocerebellar ataxia type 13 (SCA13) and two additionally potential ones.
25152487 These results are specific to the KCNC3(R420H) allele and provide new insight into the molecular basis of disease manifestation in SCA13.
24116147 Data indicate that an autosomal dominant mutation in the gene encoding Kv3.3 has been identified in a large Filipino kindred manifesting as spinocerebellar ataxia type 13 (SCA13).
23912307 This study presented the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis.
23734863 Data suggest that mutant forms of Kv3.3 (as seem in subjects with spinocerebellar ataxia-13) are unstable, are degraded through proteasomes at faster rates, and can be stabilized by a chemical chaperone.
23293936 no disease-related KCNC3 mutation was identified, suggesting that spinocerebellar ataxia type 13 is a rare form of SCA in mainland China
22289912 Kv3.3 gating contributes significantly to an early age of onset in spinocerebellar ataxia type 13
21827913 The KCNC3 mutation casued Spinocerebellar ataxia 13.
21543613 The spinocerebellar ataxia type 13 mutation of the KV3.3 gene specifically suppresses the excitability of Kv3.3-expressing, fast-spiking neurons in zebrafish
21479265 Mutations in KCNC3 are a rare cause of spinocerebellar ataxia with a frequency of less than 1%.
19953606 The p.Arg420His mutation, which results in a nonfunctional channel subunit, was recurrent and associated with late-onset progressive ataxia.
18592334 Mutations in the voltage-gated potassium channel KCNC3 are causative for spinocerebellar ataxia 13.
16501573 results establish a role for KCNC3 in phenotypes ranging from developmental disorders to adult-onset neurodegeneration and suggest voltage-gated K+ channels as candidates for additional neurodegenerative diseases
15148151 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

MLSSVCVSSFRGRQGASKQQPAPPPQPPESPPPPPLPPQQQQPAQPGPAASPAGPPAPRGPGDRRAEPCP      1 - 70
GLPAAAMGRHGGGGGDSGKIVINVGGVRHETYRSTLRTLPGTRLAGLTEPEAAARFDYDPGADEFFFDRH     71 - 140
PGVFAYVLNYYRTGKLHCPADVCGPLFEEELGFWGIDETDVEACCWMTYRQHRDAEEALDSFEAPDPAGA    141 - 210
ANAANAAGAHDGGLDDEAGAGGGGLDGAGGELKRLCFQDAGGGAGGPPGGAGGAGGTWWRRWQPRVWALF    211 - 280
EDPYSSRAARYVAFASLFFILISITTFCLETHEGFIHISNKTVTQASPIPGAPPENITNVEVETEPFLTY    281 - 350
VEGVCVVWFTFEFLMRITFCPDKVEFLKSSLNIIDCVAILPFYLEVGLSGLSSKAAKDVLGFLRVVRFVR    351 - 420
ILRIFKLTRHFVGLRVLGHTLRASTNEFLLLIIFLALGVLIFATMIYYAERIGADPDDILGSNHTYFKNI    421 - 490
PIGFWWAVVTMTTLGYGDMYPKTWSGMLVGALCALAGVLTIAMPVPVIVNNFGMYYSLAMAKQKLPKKKN    491 - 560
KHIPRPPQPGSPNYCKPDPPPPPPPHPHHGSGGISPPPPITPPSMGVTVAGAYPAGPHTHPGLLRGGAGG    561 - 630
LGIMGLPPLPAPGEPCPLAQEEVIEINRADPRPNGDPAAAALAHEDCPAIDQPAMSPEDKSPITPGSRGR    631 - 700
YSRDRACFLLTDYAPSPDGSIRKATGAPPLPPQDWRKPGPPSFLPDLNANAAAWISP                 701 - 757
//

Text Mined References (24)

PMID Year Title
26997484 2016 Kv3.3 Channels Bind Hax-1 and Arp2/3 to Assemble a Stable Local Actin Network that Regulates Channel Gating.
26849432 2016 Voltage-Gated K+ Channel, Kv3.3 Is Involved in Hemin-Induced K562 Differentiation.
25981959 2015 De novo point mutations in patients diagnosed with ataxic cerebral palsy.
25756792 2015 Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases.
25152487 2014 KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking.
24116147 2013 Mutation in the kv3.3 voltage-gated potassium channel causing spinocerebellar ataxia 13 disrupts sound-localization mechanisms.
23912307 2013 Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13.
23734863 2013 Spinocerebellar ataxia-13 Kv3.3 potassium channels: arginine-to-histidine mutations affect both functional and protein expression on the cell surface.
23293936 2013 Spinocerebellar ataxia type 13 is an uncommon SCA subtype in the Chinese Han population.
22289912 2012 Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13.
21827913 2012 Spinocerebellar ataxia 13 and 25.
21543613 2011 Spinocerebellar ataxia type 13 mutant potassium channel alters neuronal excitability and causes locomotor deficits in zebrafish.
21479265 2011 Frequency of KCNC3 DNA variants as causes of spinocerebellar ataxia 13 (SCA13).
19953606 2010 KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
18592334 2008 Sca13.
16501573 2006 Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
16382104 2005 International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels.
15148151 2004 Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
15057824 2004 The DNA sequence and biology of human chromosome 19.
10820125 2000 Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation.
10712820 2000 Kv3.3 potassium channels in lens epithelium and corneal endothelium.
8917565 1996 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.
8111118 1993 Localization of Shaw-related K+ channel genes on mouse and human chromosomes.
1740329 1992 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.