TGX_Final (Homo sapiens)

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Description

KCNQ2/KCNQ3-related epilepsy (under construction)

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Ontology Terms

 

Bibliography

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  14. Goetz R, Dover K, Laezza F, Shtraizent N, Huang X, Tchetchik D, Eliseenkova AV, Xu CF, Neubert TA, Ornitz DM, Goldfarb M, Mohammadi M; ''Crystal structure of a fibroblast growth factor homologous factor (FHF) defines a conserved surface on FHFs for binding and modulation of voltage-gated sodium channels.''; J Biol Chem, 2009 PubMed Europe PMC Scholia
  15. Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE; ''Sodium-channel defects in benign familial neonatal-infantile seizures.''; Lancet, 2002 PubMed Europe PMC Scholia
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  20. Pan Y, Xiao Y, Pei Z, Cummins TR; ''S-Palmitoylation of the sodium channel Nav1.6 regulates its activity and neuronal excitability.''; J Biol Chem, 2020 PubMed Europe PMC Scholia
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  24. Gardella E, Becker F, Møller RS, Schubert J, Lemke JR, Larsen LH, Eiberg H, Nothnagel M, Thiele H, Altmüller J, Syrbe S, Merkenschlager A, Bast T, Steinhoff B, Nürnberg P, Mang Y, Bakke Møller L, Gellert P, Heron SE, Dibbens LM, Weckhuysen S, Dahl HA, Biskup S, Tommerup N, Hjalgrim H, Lerche H, Beniczky S, Weber YG; ''Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.''; Ann Neurol, 2016 PubMed Europe PMC Scholia
  25. Penas C, Mishra JK, Wood SD, Schürer SC, Roush WR, Ayad NG; ''GSK3 inhibitors stabilize Wee1 and reduce cerebellar granule cell progenitor proliferation.''; Cell Cycle, 2015 PubMed Europe PMC Scholia
  26. Ogino K, Low SE, Yamada K, Saint-Amant L, Zhou W, Muto A, Asakawa K, Nakai J, Kawakami K, Kuwada JY, Hirata H; ''RING finger protein 121 facilitates the degradation and membrane localization of voltage-gated sodium channels.''; Proc Natl Acad Sci U S A, 2015 PubMed Europe PMC Scholia
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  29. Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S; ''De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.''; Am J Hum Genet, 2017 PubMed Europe PMC Scholia
  30. James TF, Nenov MN, Wildburger NC, Lichti CF, Luisi J, Vergara F, Panova-Electronova NI, Nilsson CL, Rudra JS, Green TA, Labate D, Laezza F; ''The Nav1.2 channel is regulated by GSK3.''; Biochim Biophys Acta, 2015 PubMed Europe PMC Scholia
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  33. Rosker C, Lohberger B, Hofer D, Steinecker B, Quasthoff S, Schreibmayer W; ''The TTX metabolite 4,9-anhydro-TTX is a highly specific blocker of the Na(v1.6) voltage-dependent sodium channel.''; Am J Physiol Cell Physiol, 2007 PubMed Europe PMC Scholia
  34. Wang Y, Yang H, Li N, Wang L, Guo C, Ma W, Liu S, Peng C, Chen J, Song H, Chen H, Ma X, Yi J, Lian J, Kong W, Dong J, Tu X, Shah M, Tian X, Huang Z; ''A Novel Ubiquitin Ligase Adaptor PTPRN Suppresses Seizure Susceptibility through Endocytosis of Na(V)1.2 Sodium Channels.''; Adv Sci (Weinh), 2024 PubMed Europe PMC Scholia
  35. Rougier JS, van Bemmelen MX, Bruce MC, Jespersen T, Gavillet B, Apothéloz F, Cordonier S, Staub O, Rotin D, Abriel H; ''Molecular determinants of voltage-gated sodium channel regulation by the Nedd4/Nedd4-like proteins.''; Am J Physiol Cell Physiol, 2005 PubMed Europe PMC Scholia
  36. Reddy Chichili VP, Xiao Y, Seetharaman J, Cummins TR, Sivaraman J; ''Structural basis for the modulation of the neuronal voltage-gated sodium channel NaV1.6 by calmodulin.''; Sci Rep, 2013 PubMed Europe PMC Scholia

History

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140718view11:27, 16 October 2025DaraTsenovaNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AKAP5GeneProductENSG00000179841 (Ensembl)
AKT2GeneProductENSG00000105221 (Ensembl)
ANK3GeneProductENSG00000151150 (Ensembl)
ARIH2GeneProductENSG00000177479 (Ensembl)
BTG3GeneProductENSG00000154640 (Ensembl)
CALM1ProteinP0DP23 (Uniprot-TrEMBL)
CAMK2AGeneProductENSG00000070808 (Ensembl)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
Calmodulin-1ProteinP0DP23 (Uniprot-TrEMBL)
Ca²+MetaboliteCHEBI:29108 (ChEBI)
DAG1ProteinQ14118 (Uniprot-TrEMBL)
GABAMetaboliteP14867 (ChEBI)
GIGYF1GeneProductENSG00000146830 (Ensembl)
GOLM1GeneProductENSG00000135052 (Ensembl)
GRIK1GeneProductENSG00000171189 (Ensembl)
GeneProductGeneProduct
IP3 MetaboliteCHEBI:16595 (ChEBI)
ITPR1GeneProductENSG00000150995 (Ensembl)
KCNQ1GeneProductENSG00000053918 (Ensembl)
KCNQ2GeneProductENSG00000075043 (Ensembl)
KCNQ3GeneProductENSG00000184156 (Ensembl)
KCNQ4GeneProductENSG00000117013 (Ensembl)
KCNQ5GeneProductENSG00000185760 (Ensembl)
Kv7.2ProteinO43526 (Uniprot-TrEMBL)
Kv7.3ProteinO43525 (Uniprot-TrEMBL)
Na+MetaboliteCHEBI:29101 (ChEBI)
Nav1.2ProteinQ99250 (Uniprot-TrEMBL)
Nav1.6ProteinQ9UQD0 (Uniprot-TrEMBL)
P4HBGeneProductENSG00000185624 (Ensembl)
PIP2MetaboliteCHEBI:18348 (ChEBI)
PKAProteinQ2VWB6 (Uniprot-TrEMBL)
PRKACAGeneProductENSG00000072062 (Ensembl)
PRKAR2BGeneProductENSG00000005249 (Ensembl)
PRKCEGeneProductPRKCE (HGNC)
PRRT2GeneProductENSG00000167371 (Ensembl)
ProteinProtein
SCN2AGeneProductENSG00000136531 (Ensembl)
SCN4BGeneProductENSG00000177098 (Ensembl)
SCN8AGeneProductSCN8A (HGNC)
SNAP25GeneProductENSG00000132639 (Ensembl)
SRXN1GeneProductENSG00000271303 (Ensembl)
STX1AGeneProductENSG00000106089 (Ensembl)
TRAPPC10GeneProductENSG00000160218 (Ensembl)
TRAPPC4GeneProductENSG00000196655 (Ensembl)
TRAPPC6BGeneProductENSG00000182400 (Ensembl)
TRAPPC9GeneProductENSG00000167632 (Ensembl)
VAMP2ProteinF8WCA0 (Uniprot-TrEMBL)
WDR73GeneProductENSG00000177082 (Ensembl)
nPKCεProteinQ02156 (Uniprot-TrEMBL)

Annotated Interactions

No annotated interactions

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