KCNQ2-related epilepsies (Homo sapiens)

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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.

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Bibliography

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  1. 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
  2. Mei D, Cetica V, Marini C, Guerrini R; ''''; , PubMed Europe PMC Scholia
  3. 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
  4. 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
  5. 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
  6. Wang JJ, Li Y; ''KCNQ potassium channels in sensory system and neural circuits.''; Acta Pharmacol Sin, 2016 PubMed Europe PMC Scholia
  7. 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

History

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CompareRevisionActionTimeUserComment
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

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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

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