Property Summary

NCBI Gene PubMed Count 77
Grant Count 30
R01 Count 25
Funding $2,776,445.49
PubMed Score 100.54
PubTator Score 105.97

Knowledge Summary

Patent (10,723)

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma -1.300 0.000
astrocytic glioma -1.700 0.001
posterior fossa group A ependymoma -2.500 0.000
oligodendroglioma -1.700 0.007
glioblastoma -2.000 0.000
group 4 medulloblastoma -2.900 0.000
atypical teratoid / rhabdoid tumor -2.800 0.000
medulloblastoma, large-cell -2.100 0.002
primitive neuroectodermal tumor -1.800 0.001
pediatric high grade glioma -1.600 0.000
pilocytic astrocytoma -1.700 0.000
Pick disease -1.200 0.044
ovarian cancer 1.500 0.000

Gene RIF (41)

PMID Text
26692086 Carboxyl terminus helix C-D linker residues play a role in KCNQ3 current amplitudes by controlling the exit of the KCNQ3 channel from the endoplasmic reticulum.
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.
25998125 Phosphorylation of KCNQ2 and KCNQ3 anchor domains by protein kinase CK2 augments binding to AnkG.
25740509 the present results suggest that gain-of-function mutations in Kv7.2/3 currents may cause human epilepsy with a severe clinical course
25524373 mutations in KCNQ3, similarly to KCNQ2, can be found in patients with more severe phenotypes including intellectual disability
25278462 the clinical and EEG features of this patient further on expand the phenotypic variability of KCNQ3 gene mutations
25041603 In bipolar disorder patients' prefrontal cortex, Kcnq3 expression was decreased, DNA methylation was decreased, and Kcnq3 mRNA was decreased compared to controls.
24843134 We monitored KCNQ2/3 channel currents and translocation of PHPLCdelta1 domains as real-time indicators of PM PI(4,5)P2, and translocation of PHOSH2x2, and PHOSH1 domains as indicators of plasma membrane and Golgi PI(4)P, respectively.
24375629 We described clinical, genetic, and functional data from 17 families with a diagnosis of benign familial neonatal epilepsy caused by KCNQ2 or KCNQ3 mutations and we showed that some mutations lead to a reduction of Q2 channel regulation by syntaxin-1A.
23360469 KCNQ3 mutations might be involved in families with infantile seizures.
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AA Sequence

MGLKARRAAGAAGGGGDGGGGGGGAANPAGGDAAAAGDEERKVGLAPGDVEQVTLALGAGADKDGTLLLE      1 - 70
GGGRDEGQRRTPQGIGLLAKTPLSRPVKRNNAKYRRIQTLIYDALERPRGWALLYHALVFLIVLGCLILA     71 - 140
VLTTFKEYETVSGDWLLLLETFAIFIFGAEFALRIWAAGCCCRYKGWRGRLKFARKPLCMLDIFVLIASV    141 - 210
PVVAVGNQGNVLATSLRSLRFLQILRMLRMDRRGGTWKLLGSAICAHSKELITAWYIGFLTLILSSFLVY    211 - 280
LVEKDVPEVDAQGEEMKEEFETYADALWWGLITLATIGYGDKTPKTWEGRLIAATFSLIGVSFFALPAGI    281 - 350
LGSGLALKVQEQHRQKHFEKRRKPAAELIQAAWRYYATNPNRIDLVATWRFYESVVSFPFFRKEQLEAAS    351 - 420
SQKLGLLDRVRLSNPRGSNTKGKLFTPLNVDAIEESPSKEPKPVGLNNKERFRTAFRMKAYAFWQSSEDA    421 - 490
GTGDPMAEDRGYGNDFPIEDMIPTLKAAIRAVRILQFRLYKKKFKETLRPYDVKDVIEQYSAGHLDMLSR    491 - 560
IKYLQTRIDMIFTPGPPSTPKHKKSQKGSAFTFPSQQSPRNEPYVARPSTSEIEDQSMMGKFVKVERQVQ    561 - 630
DMGKKLDFLVDMHMQHMERLQVQVTEYYPTKGTSSPAEAEKKEDNRYSDLKTIICNYSETGPPEPPYSFH    631 - 700
QVTIDKVSPYGFFAHDPVNLPRGGPSSGKVQATPPSSATTYVERPTVLPILTLLDSRVSCHSQADLQGPY    701 - 770
SDRISPRQRRSITRDSDTPLSLMSVNHEELERSPSGFSISQDRDDYVFGPNGGSSWMREKRYLAEGETDT    771 - 840
DTDPFTPSGSMPLSSTGDGISDSVWTPSNKPI                                          841 - 872
//

Text Mined References (78)

PMID Year Title
26692086 2015 The Role of the Carboxyl Terminus Helix C-D Linker in Regulating KCNQ3 K+ Current Amplitudes by Controlling Channel Trafficking.
26627826 2016 The Sensorless Pore Module of Voltage-gated K+ Channel Family 7 Embodies the Target Site for the Anticonvulsant Retigabine.
25998125 2015 An Ankyrin-G N-terminal Gate and Protein Kinase CK2 Dually Regulate Binding of Voltage-gated Sodium and KCNQ2/3 Potassium Channels.
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.
25524373 2015 A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.
25278462 2015 A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes.
25041603 2015 DNA methylation and expression of KCNQ3 in bipolar disorder.
24843134 2014 Golgi and plasma membrane pools of PI(4)P contribute to plasma membrane PI(4,5)P2 and maintenance of KCNQ2/3 ion channel current.
24646441 2014 Expression of voltage-dependent potassium channels in first trimester human placentae.
24375629 2014 Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
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