Property Summary

NCBI Gene PubMed Count 25
Grant Count 38
R01 Count 23
Funding $5,911,968.5
PubMed Score 57.14
PubTator Score 40.96

Knowledge Summary

Patent (2,281)

Expression

  Differential Expression (6)

Disease log2 FC p
ependymoma -1.400 0.000
glioblastoma -1.400 0.000
primitive neuroectodermal tumor -1.200 0.000
pediatric high grade glioma -1.200 0.000
pilocytic astrocytoma -1.200 0.000
sonic hedgehog group medulloblastoma -1.300 0.000

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
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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.
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