KCNQ2-related epilepsies (Homo sapiens)

From WikiPathways

Revision as of 11:51, 22 December 2023 by Eweitz (Talk | contribs)
Jump to: navigation, search
Severity of mutation impacts phenotype of disorderGene productKv7 Channel ConstructionMetaboliteLoss or Gain of function mutationInhibition of M Channel Current results in impairment of potassium flow,which results in a constant state of depolarization.ModulatorsScaffolding ProteinNodes of Ranvier / Axon Initial SegmentsM current ImpairedC-terminal Kv7 channelSerine ResiduescAMPKCNQ3PIP2Kv7.2KCNQ2Kv7.3AChKv7.3Kv7.2Kv7.2Kv7.3K+AKAP5BACE13Navβ1PKAPLC6PKCSCN1B7PP1STX1ACK2PP2BPIP2ANK34PIP2Kv7.3Kv7.2Kv7.2Kv7.3ANK3ANK3Kv7.2Kv7.3Kv7.2Kv7.3Serine ResiduesSerine ResiduesCALM1CALM1CALM1GABAITPR15IP3Ca2+56AGTR1CHRM16Ang II4, 6BDKRB21, 6P2RY11, 6InhibitionStimulationLegendTranscriptionCatalysationState ChangeBindingGene productphosphorylated


Description

KCNQ gene mutations are a common source for genetically caused epilepsies. KCNQ genes code for Kv7 subunits, which are required for Kv7 channels in the brain. These channels, also known as the M channels, are required for an outward potassium flow, known as the M current. Mutations in KCNQ genes and genes associated with Kv7 channel function can result in the impairment of this potassium flow. This leads to a constant state of depolarization in the neuron cells, which leads to increased excitabilty and a constant firing of action potentials, resulting in types of epilepsy.

Please use the New WikiPathways

View approved pathways at the new wikipathways.org. This website will shutdown soon.

Quality Tags

Ontology Terms

 

Bibliography

View all...
  1. Bouza AA, Philippe JM, Edokobi N, Pinsky AM, Offord J, Calhoun JD, Lopez-Florán M, Lopez-Santiago LF, Jenkins PM, Isom LL; ''Sodium channel β1 subunits are post-translationally modified by tyrosine phosphorylation, S-palmitoylation, and regulated intramembrane proteolysis.''; J Biol Chem, 2020 PubMed Europe PMC Scholia
  2. Mei D, Cetica V, Marini C, Guerrini R; ''Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies.''; Epilepsia, 2019 PubMed Europe PMC Scholia
  3. Zhang H, Craciun LC, Mirshahi T, Rohács T, Lopes CM, Jin T, Logothetis DE; ''PIP(2) activates KCNQ channels, and its hydrolysis underlies receptor-mediated inhibition of M currents.''; Neuron, 2003 PubMed Europe PMC Scholia
  4. Zaika O, Tolstykh GP, Jaffe DB, Shapiro MS; ''Inositol triphosphate-mediated Ca2+ signals direct purinergic P2Y receptor regulation of neuronal ion channels.''; J Neurosci, 2007 PubMed Europe PMC Scholia
  5. Nguyen HM, Miyazaki H, Hoshi N, Smith BJ, Nukina N, Goldin AL, Chandy KG; ''Modulation of voltage-gated K+ channels by the sodium channel β1 subunit.''; Proc Natl Acad Sci U S A, 2012 PubMed Europe PMC Scholia
  6. Wang JJ, Li Y; ''KCNQ potassium channels in sensory system and neural circuits.''; Acta Pharmacol Sin, 2016 PubMed Europe PMC Scholia
  7. Singh SP, William M, Malavia M, Chu XP; ''Behavior of KCNQ Channels in Neural Plasticity and Motor Disorders.''; Membranes (Basel), 2022 PubMed Europe PMC Scholia

History

View all...
CompareRevisionActionTimeUserComment
139787view06:46, 6 July 2025EgonwFixed a unicode issue in a article title
139782view04:34, 5 July 2025EgonwMore unicode
139588view06:15, 22 June 2025EgonwMarked two datanodes with ChEBI identifier as Metabolite
139508view09:17, 20 June 2025EgonwType AA residues as metabolite
139466view03:41, 19 June 2025EgonwK⁺ with unicode
139437view05:18, 17 June 2025EgonwAdded the ChEBI ID for the serine residues (assuming L-serine)
139436view05:16, 17 June 2025EgonwNot a mim-conversion
139435view05:12, 17 June 2025EgonwRemoved duplicate BioPax fields
138934view22:57, 7 May 2025EweitzRefine layering, align with membrane
138933view22:55, 7 May 2025EweitzOntology Term : 'neuron' added !
138932view22:54, 7 May 2025EweitzStandardize case
138931view22:53, 7 May 2025EweitzStack nodes, tailor node dimensions
138930view22:49, 7 May 2025EweitzTailor node dimensions, refine layering
138929view22:43, 7 May 2025EweitzEconomize layout
138928view22:33, 7 May 2025EweitzRefine arrangement
138927view22:31, 7 May 2025EweitzEconomize layout
138926view22:27, 7 May 2025EweitzEconomize layout
138925view22:19, 7 May 2025EweitzEconomize layout
138924view22:15, 7 May 2025EweitzEconomize layout
138923view22:10, 7 May 2025EweitzEconomize layout
138922view22:09, 7 May 2025EweitzEconomize layout
138921view22:06, 7 May 2025EweitzEconomize layout
138920view22:02, 7 May 2025EweitzEconomize layout
138919view21:46, 7 May 2025EweitzDecrease node height
138918view21:44, 7 May 2025EweitzEconomize layout
128048view08:46, 23 January 2024Fehrhartchanged data nodes to graphical elements in legend
127830view11:51, 22 December 2023EweitzModified title
127797view12:33, 16 December 2023EgonwChEBI id for Ca2+ instead of the "Ca" atom
126917view13:56, 4 July 2023BTJvanDijlAdded correct PLC annotation
126916view07:21, 4 July 2023BTJvanDijlAdded green box to better visualize the steps of the pathway
126915view07:06, 4 July 2023BTJvanDijlPathway Update
126695view06:50, 14 June 2023BTJvanDijlFixed connections
126694view06:48, 14 June 2023BTJvanDijlAdded more connections
126687view10:32, 13 June 2023BTJvanDijlAdded additional connections
126507view05:31, 15 May 2023BTJvanDijlUpdate on modulators, added genes.
126459view20:34, 30 April 2023AlexanderPicoOntology Term : 'disease pathway' added !
126458view20:34, 30 April 2023AlexanderPicoOntology Term : 'epilepsy' added !
126417view10:48, 27 April 2023BTJvanDijlNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
AChMetaboliteCHEBI:15355 (ChEBI)
AGTR1GeneProductENSG00000144891 (Ensembl)
AKAP5ProteinP24588 (Uniprot-TrEMBL)
ANK3ProteinQ12955 (Uniprot-TrEMBL)
Ang IIMetaboliteCHEBI:2719 (ChEBI)
BACE1ProteinP56817 (Uniprot-TrEMBL)
BDKRB2GeneProductENSG00000168398 (Ensembl)
CALM1ProteinP0DP23 (Uniprot-TrEMBL)
CHRM1GeneProductENSG00000168539 (Ensembl)
CK2 ProteinP68400 (Uniprot-TrEMBL)
Ca2+MetaboliteCHEBI:29108 (ChEBI)
GABAMetaboliteCHEBI:16865 (ChEBI)
IP3MetaboliteCHEBI:16595 (ChEBI)
ITPR1GeneProductENSG00000150995 (Ensembl)
K+MetaboliteCHEBI:29103 (ChEBI)
KCNQ2GeneProductENSG00000075043 (Ensembl)
KCNQ3GeneProductENSG00000184156 (Ensembl)
Kv7.2ProteinO43526 (Uniprot-TrEMBL)
Kv7.3ProteinO43525 (Uniprot-TrEMBL)
Navβ1ProteinO43525 (Uniprot-TrEMBL)
P2RY1GeneProductENSG00000169860 (Ensembl)
PIP2MetaboliteCHEBI:18348 (ChEBI)
PKA GeneProductENSG00000072062 (Ensembl)
PKCProteinP17252 (Uniprot-TrEMBL)
PLCProteinP16885 (Uniprot-TrEMBL)
PP1 ProteinQ96QC0 (Uniprot-TrEMBL)
PP2BProteinP48454 (Uniprot-TrEMBL)
SCN1BGeneProductENSG00000105711 (Ensembl)
STX1AProteinQ16623 (Uniprot-TrEMBL)
Serine ResiduesProtein
cAMPMetaboliteCHEBI:17489 (ChEBI)

Annotated Interactions

No annotated interactions

Retrieved from "https://oldclassic.wikipathways.org/index.php/Pathway:WP5360"