Property Summary

NCBI Gene PubMed Count 115
Grant Count 61
R01 Count 53
Funding $7,819,357.18
PubMed Score 412.93
PubTator Score 255.79

Knowledge Summary

Patent (27,028)

Expression

  Differential Expression (13)

Synonym

Accession O43526 O43796 O75580 O95845 Q4VXP4 Q4VXR6 Q5VYT8 Q96J59 Q99454
Symbols EBN
BFNC
EBN1
ENB1
HNSPC
KV7.2
KCNA11

Gene

PDB

5J03  

Gene RIF (83)

PMID Text
26627826 a structural mechanism for the gating of the Kv7.3 PM and for the site of action of RTG as a Kv7.2/Kv7.3 K(+) current activator.
26148514 Our data indicate that the TW site is dispensable for function, contributes to the stabilization of the CaM-Kv7.2 complex and becomes essential when docking to either helix A or when helix B is perturbed.
26007637 all the patients carrying the p.A294V mutation of KCNQ2 presented the clinical and EEG characteristics of early onset epileptic encephalopathy
25998125 Phosphorylation of KCNQ2 and KCNQ3 anchor domains by protein kinase CK2 augments binding to AnkG.
25959266 There is a variable clinical expression in infantile epilepsy patients with mosaicism for KCNQ2 mutations.
25880994 The results of thus study suggested that the type of KCNQ2 mutation might influence Antiepileptic drug response epilepsy as well as developmental outcome.
25818041 Epileptic encephalopathy related to mutations in the KCNQ2 genes.
25740509 the present results suggest that gain-of-function mutations in Kv7.2/3 currents may cause human epilepsy with a severe clinical course
25385787 Collectively, this work reveals that residue C106 in S1 can be very close to several N-terminal S4 residues for stabilizing different KCNQ2 resting conformations.
25052858 This study demonistrated that KCNQ2 mutation association with epilepsy.
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AA Sequence

MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAGGAGAGKPPKR      1 - 70
NAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEKSSEGALYILEIVTIVVFGVE     71 - 140
YFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASIAVLAAGSQGNVFATSALRSLRFLQILRMIR    141 - 210
MDRRGGTWKLLGSVVYAHSKELVTAWYIGFLCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGY    211 - 280
GDKYPQTWNGRLLAATFTLIGVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATN    281 - 350
LSRTDLHSTWQYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSP    351 - 420
CRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKVPKSWSFGDRS    421 - 490
RARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSIRAVCVMRFLVSKRKFKESLR    491 - 560
PYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAITDKDRTKGPAEAELPEDPSMMGRLGKVEKQV    561 - 630
LSMEKKLDFLVNIYMQRMGIPPTETEAYFGAKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKN    631 - 700
FSAPPAAPPVQCPPSTSWQPQSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQED    701 - 770
TPGCRPPEGNLRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESD    771 - 840
TDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK                                          841 - 872
//

Text Mined References (114)

PMID Year Title
26627826 2016 The Sensorless Pore Module of Voltage-gated K+ Channel Family 7 Embodies the Target Site for the Anticonvulsant Retigabine.
26148514 2015 An unconventional calmodulin-anchoring site within the AB module of Kv7.2 channels.
26007637 2015 A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
25998125 2015 An Ankyrin-G N-terminal Gate and Protein Kinase CK2 Dually Regulate Binding of Voltage-gated Sodium and KCNQ2/3 Potassium Channels.
25959266 2015 Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
25880994 2015 Early and effective treatment of KCNQ2 encephalopathy.
25818041 2015 Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
25740509 2015 Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.
25385787 2014 Capturing distinct KCNQ2 channel resting states by metal ion bridges in the voltage-sensor domain.
25052858 2014 The variable phenotypes of KCNQ-related epilepsy.
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