ANK2 pathway (Homo sapiens)

From WikiPathways

Jump to: navigation, search
ArcPathVisio Brace Ellipse EndoplasmicReticulum GolgiApparatus HexagonPathVisio MimDegradation Mitochondria Octagon PentagonPathVisio Rectangle RoundedRectangle SarcoplasmicReticulum TriangleEquilateralEast TrianglePathVisio none NeuroinflammationPresynaptic vesicleNeuronal excitabilityNeuronal apoptosisNucleusNa/K-channel functioningOxidative stressGrowth cone collapseER stressE/I balancePlasma MembraneROS formationSynaptic plasticityCalcium imbalanceHyperfusionKCNQ2 clusteringAxonal remodelingPlasma membraneNa+ channel functioningCytoplasmNeuronSomaAIS plasticitySynaptogenesisNeuronal dysfunctionUPR activationNeuronal firingEpileptogenic insultsAxonal branchingMitochondrial fragmentationSynaptic vesicle releaseMisfolded protein accumulationATP productionNeuronal hyperexcitabilityF-Actin stabilityAxon initial segmentSAD kinasesBRSK2BRSK1CHOPATF4KCNQ2Wnt signalingSEMA3ASPTAN1Drp1PRICKLE1SPTBN4ANK3ANKB220eIF2aATF6ANK2TauL1CAMTauPERKSNAP25CK2PRRT2ANKB440CTNNB1SCN2AppName: ANK2 pathwayOrganism: Homo sapiens


Description

ANK2 pathway in relation to Epilepsy

Try the New WikiPathways

View approved pathways at the new wikipathways.org.

Quality Tags

Image:UnderConstruction.pngUnder construction

Ontology Terms

 

Bibliography

View all...
  1. Fu J, Tao T, Li Z, Chen Y, Li J, Peng L; ''The roles of ER stress in epilepsy: Molecular mechanisms and therapeutic implications.''; Biomed Pharmacother, 2020 PubMed Europe PMC Scholia
  2. Huang CY, Rasband MN; ''Axon initial segments: structure, function, and disease.''; Ann N Y Acad Sci, 2018 PubMed Europe PMC Scholia
  3. Yoon S, Penzes P; ''Roles of ANK2/ankyrin-B in neurodevelopmental disorders: Isoform functions and implications for autism spectrum disorder and epilepsy.''; Curr Opin Neurobiol, 2025 PubMed Europe PMC Scholia
  4. Yoon S, Penzes P; ''Roles of ANK2/ankyrin-B in neurodevelopmental disorders: Isoform functions and implications for autism spectrum disorder and epilepsy.''; Curr Opin Neurobiol, 2025 PubMed Europe PMC Scholia
  5. Thompson CH, Potet F, Abramova TV, DeKeyser JM, Ghabra NF, Vanoye CG, Millichap JJ, George AL; ''Epilepsy-associated SCN2A (NaV1.2) variants exhibit diverse and complex functional properties.''; J Gen Physiol, 2023 PubMed Europe PMC Scholia
  6. Di Meo D, Ravindran P, Sadhanasatish T, Dhumale P, Püschel AW; ''The balance of mitochondrial fission and fusion in cortical axons depends on the kinases SadA and SadB.''; Cell Rep, 2021 PubMed Europe PMC Scholia
  7. Teunissen MWA, Lewerissa E, van Hugte EJH, Wang S, Ockeloen CW, Koolen DA, Pfundt R, Marcelis CLM, Brilstra E, Howe JL, Scherer SW, Le Guillou X, Bilan F, Primiano M, Roohi J, Piton A, de Saint Martin A, Baer S, Seiffert S, Platzer K, Jamra RA, Syrbe S, Doering JH, Lakhani S, Nangia S, Gilissen C, Vermeulen RJ, Rouhl RPW, Brunner HG, Willemsen MH, Nadif Kasri N; ''ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.''; Hum Mol Genet, 2023 PubMed Europe PMC Scholia
  8. Xie W, Koppula S, Kale MB, Ali LS, Wankhede NL, Umare MD, Upaganlawar AB, Abdeen A, Ebrahim EE, El-Sherbiny M, Behl T, Shen B, Singla RK; ''Unraveling the nexus of age, epilepsy, and mitochondria: exploring the dynamics of cellular energy and excitability.''; Front Pharmacol, 2024 PubMed Europe PMC Scholia
  9. Di Meo D, Ravindran P, Sadhanasatish T, Dhumale P, Püschel AW; ''The balance of mitochondrial fission and fusion in cortical axons depends on the kinases SadA and SadB.''; Cell Rep, 2021 PubMed Europe PMC Scholia
  10. Buelow M, Süßmuth D, Smith LD, Aryani O, Castiglioni C, Stenzel W, Bertini E, Schuelke M, Knierim E; ''Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.''; Eur J Hum Genet, 2021 PubMed Europe PMC Scholia
  11. Zhuang W, Ye T, Wang W, Song W, Tan T; ''CTNNB1 in neurodevelopmental disorders.''; Front Psychiatry, 2023 PubMed Europe PMC Scholia
  12. Chen K, Yang R, Li Y, Zhou JC, Zhang M; ''Giant ankyrin-B suppresses stochastic collateral axon branching through direct interaction with microtubules.''; J Cell Biol, 2020 PubMed Europe PMC Scholia
  13. Wolff M, Brunklaus A, Zuberi SM; ''Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.''; Epilepsia, 2019 PubMed Europe PMC Scholia
  14. Davis JQ, Bennett V; ''Ankyrin binding activity shared by the neurofascin/L1/NrCAM family of nervous system cell adhesion molecules.''; J Biol Chem, 1994 PubMed Europe PMC Scholia
  15. Nobile C, Striano P; ''PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood.''; Prog Brain Res, 2014 PubMed Europe PMC Scholia
  16. Chen Y, Liu TT, Niu M, Li X, Wang X, Liu T, Li Y; ''Epilepsy gene prickle ensures neuropil glial ensheathment through regulating cell adhesion molecules.''; iScience, 2023 PubMed Europe PMC Scholia
  17. Yoon S, Santos MD, Forrest MP, Pratt CP, Khalatyan N, Mohler PJ, Savas JN, Penzes P; ''Early developmental deletion of forebrain Ank2 causes seizure-related phenotypes by reshaping the synaptic proteome.''; Cell Rep, 2023 PubMed Europe PMC Scholia

History

CompareRevisionActionTimeUserComment
139104view14:32, 20 May 2025SanauwbarMohammadNew pathway

External references

DataNodes

View all...
Name  ↓Type  ↓Database reference  ↓Comment  ↓
ANK2GeneProductENSG00000145362 (Ensembl)
ANK3GeneProductENSG00000151150 (Ensembl)
ANKB220ProteinQ01484 (Uniprot-TrEMBL)
ANKB440ProteinQ01484 (Uniprot-TrEMBL)
ATF4ProteinENSG00000128272 (Ensembl)
ATF6PathwayWP1865 (WikiPathways)
BRSK1GeneProductENSG00000160469 (Ensembl) AKA SadA kinase
BRSK2GeneProductENSG00000174672 (Ensembl) AKA SadB kinase
CHOPProteinENSG00000175197 (Ensembl) DDIT3
CK2ProteinENSG00000100526 (Ensembl) In addition, the clustering of Na+ channels at the AIS and nodes of Ranvier can be regulated by protein kinase CK2. CK2 inhibition reduces the density of Na+ channels at the AIS.
CTNNB1GeneProductENSG00000168036 (Ensembl)
  • encoded by CTNNB1
  • Type your comment here
Drp1GeneProductENSG00000087470 (Ensembl) DNML
KCNQ2GeneProductENSG00000075043 (Ensembl)
L1CAMProteinENSP00000359077 (Ensembl)
PERKPathwayWP1865 (WikiPathways)
PRICKLE1GeneProductENSG00000139174 (Ensembl)
PRRT2GeneProductENSG00000167371 (Ensembl)
SCN2AGeneProductENSG00000136531 (Ensembl) if you have a LoF of scn2a-> dendritic excitability decreases due to impaired sodium influx. If yu have a GoF, dendritic excitability increases
SEMA3AProteinENSG00000075213 (Ensembl)
SNAP25GeneProductENSG00000132639 (Ensembl)
SPTAN1GeneProductENSG00000197694 (Ensembl) Pathogenic SPTAN1 (human gene encoding αII spectrin) variants cause early infantile epileptic encephalopathy type 5, an infantile epileptic encephalopathy with diffuse hypomyelination, brain atrophy and developmental retardation 112–115. Subsequent studies of these human variants, as well as studies using mice with conditional knockout of αII spectrin all show disruptions in AIS structure and neuronal excitability so, SPTAN1 maintains AIS integrity and supports Na⁺ channel organization and neuronal excitability in normal states.
SPTBN4GeneProductENSG00000160460 (Ensembl) SPTBN4 dysfunction causes disrupted KCNQ2 clustering, which normally regulates potassium currents and controls neuronal excitability. this therefore leads to epileptic dischanrges and seizures
Tau ProteinENSG00000186868 (Ensembl) MAPT (microtubule associated protein Tau)
Wnt signalingPathwayWP428 (WikiPathways)
eIF2aProteinENSG00000134001 (Ensembl) p-eIF2alpha

Annotated Interactions

No annotated interactions

Retrieved from "https://classic.wikipathways.org/index.php/Pathway:WP5557"
Personal tools