PKP4 and SCN2A

		PKP4	SCN2A
Description		plakophilin 4	sodium voltage-gated channel alpha subunit 2
Image		No pdb structure
GO Annotations	Cellular Component	Spindle Pole Cornified Envelope Nucleus Cytoplasm Spindle Cytoskeleton Plasma Membrane Cell-cell Junction Adherens Junction Cytoplasmic Side Of Plasma Membrane Postsynaptic Density Membrane Cell Junction Desmosome Midbody Organelle Cell-cell Contact Zone Perinuclear Region Of Cytoplasm Spindle Midzone Anchoring Junction Mitotic Spindle	Voltage-gated Sodium Channel Complex Plasma Membrane Membrane Axon Node Of Ranvier Monoatomic Ion Channel Complex
	Molecular Function	Protein Binding Cadherin Binding	Monoatomic Ion Channel Activity Voltage-gated Sodium Channel Activity Monoatomic Cation Channel Activity Sodium Channel Activity Protein Binding Calmodulin Binding
	Biological Process	Cell-cell Junction Assembly Cell Adhesion Cell-cell Signaling Regulation Of Cell Adhesion Positive Regulation Of Cytokinesis Regulation Of Rho Protein Signal Transduction Cell-cell Adhesion	Action Potential Monoatomic Ion Transport Sodium Ion Transport Nervous System Development Memory Intrinsic Apoptotic Signaling Pathway In Response To Osmotic Stress Neuronal Action Potential Monoatomic Ion Transmembrane Transport Sodium Ion Transmembrane Transport Myelination Neuron Apoptotic Process Transmembrane Transport Cellular Response To Hypoxia Cardiac Muscle Cell Action Potential Involved In Contraction
Pathways		Keratinization Formation of the cornified envelope RND3 GTPase cycle RND2 GTPase cycle RND1 GTPase cycle	Interaction between L1 and Ankyrins Phase 0 - rapid depolarisation Sensory perception of sweet, bitter, and umami (glutamate) taste
Drugs			Tramadol Ranolazine Phenytoin Topiramate Valproic acid Lamotrigine Carbamazepine Oxcarbazepine Propofol Cocaine Zonisamide Promethazine Chloroprocaine Tetrodotoxin Brivaracetam Tetracaine Amylocaine Propoxycaine Pramocaine Pentoxyverine Dichlorobenzyl alcohol Metergoline Bioallethrin Amylmetacresol Fish oil
Diseases			Early infantile epileptic encephalopathy; Ohtahara syndrome
GWAS		Borderline personality disorder ( 28632202) Obesity-related traits ( 23251661) Restless legs syndrome ( 29029846)	Adult body size ( 32376654) Age at first birth ( 34211149) Age at first sexual intercourse ( 34211149) Bipolar disorder ( 34002096 33263727 31043756) Diastolic blood pressure ( 30224653) Epilepsy ( 30531953) Factor VII activity ( 30642921) Febrile seizures ( 25344690) Febrile seizures (MMR vaccine-related) ( 25344690) Febrile seizures (MMR vaccine-unrelated) ( 25344690) Focal epilepsy ( 30531953) Generalized epilepsy ( 30531953) Periodontitis (DPAL) ( 24024966) Refractive error ( 32231278) Trunk fat mass ( 28552196) Urinary sodium excretion ( 31409800)
Interacting Genes		21 interacting genes: ATPAF2 CDH1 CDH2 CDH5 DSC3 DSP ERBIN GABARAP GOLGA2 LNX1 LZTS2 MINK1 OGT OSGEP PAXIP1 PDZD2 PGAM1 PSEN1 SCN2A TRIM23 UBASH3B	10 interacting genes: ANK3 ARHGEF10L B4GAT1 BAZ2B GALNT13 MPP3 PKP4 PLA2R1 RNF130 SCN4B
Entrez ID		8502	6326
HPRD ID		05043	03133
Ensembl ID		ENSG00000144283	ENSG00000136531
Uniprot IDs		Q99569	Q99250
PDB IDs			2KAV 4JPZ 4RLY 6BUT 6J8E
Enriched GO Terms of Interacting Partners?		Desmosome Cell Junction Cell Adhesion Gamma-catenin Binding Adherens Junction Organization Cell-cell Adhesion Cell-cell Junction Catenin Complex Beta-catenin Binding Anchoring Junction Intracellular Protein Localization Homophilic Cell Adhesion Via Plasma Membrane Adhesion Molecules Cell-cell Adhesion Mediated By Cadherin Cell Junction Organization Calcium-dependent Cell-cell Adhesion Via Plasma Membrane Cell Adhesion Molecules Cytoplasm Cadherin Binding Fascia Adherens Cell-cell Junction Organization Adherens Junction Cell-cell Adhesion Via Plasma-membrane Adhesion Molecules Desmosome Organization Postsynapse Regulation Of Neurotransmitter Receptor Localization To Postsynaptic Specialization Membrane Synapse Organization Protein Localization To Cell-cell Junction Smooth Endoplasmic Reticulum Brain Morphogenesis Regulation Of Cellular Localization Cell-cell Junction Assembly Regulation Of Protein Localization To Synapse Regulation Of Protein Localization Regulation Of Proteasomal Ubiquitin-dependent Protein Catabolic Process Regulation Of Receptor Localization To Synapse Plasma Membrane Protein Glycosylation Macromolecule Glycosylation Regulation Of Rac Protein Signal Transduction Cell-cell Adhesion Mediator Activity Regulation Of Protein Localization To Nucleus Cytoskeleton Organization Glycosylation Regulation Of Protein Catabolic Process Positive Regulation Of Protein Import Into Nucleus Protein Tyrosine Kinase Binding Cellular Component Assembly Regulation Of Protein Localization To Membrane Regulation Of Ubiquitin-dependent Protein Catabolic Process Negative Regulation Of Core Promoter Binding Protein N-acetylglucosaminyltransferase Complex	Sodium Channel Regulator Activity Organelle Neuronal Action Potential Positive Regulation Of Sodium Ion Transport Intercalated Disc Positive Regulation Of Membrane Depolarization During Cardiac Muscle Cell Action Potential Regulation Of Sodium Ion Transport Maintenance Of Protein Location In Plasma Membrane Positive Regulation Of Podocyte Apoptotic Process Negative Regulation Of Arachidonate Secretion Positive Regulation Of Cell Communication By Electrical Coupling Action Potential Negative Regulation Of Icosanoid Secretion Oxidative Stress-induced Premature Senescence Transmembrane Transporter Binding Regulation Of Delayed Rectifier Potassium Channel Activity Negative Regulation Of Potassium Ion Transmembrane Transporter Activity Spectrin-associated Cytoskeleton Channel Activator Activity Regulation Of Membrane Depolarization During Action Potential Negative Regulation Of Voltage-gated Potassium Channel Activity Cellular Response To Magnesium Ion Regulation Of Membrane Depolarization During Cardiac Muscle Cell Action Potential Negative Regulation Of Delayed Rectifier Potassium Channel Activity Positive Regulation Of Monoatomic Ion Transport Adherens Junction Voltage-gated Sodium Channel Activity Involved In Cardiac Muscle Cell Action Potential AV Node Cell Action Potential Protein O-linked Glycosylation Protein Glycosylation Glycosyltransferase Activity Poly-N-acetyllactosamine Metabolic Process Glycosylation N-acetyllactosaminide Beta-1,3-N-acetylglucosaminyltransferase Activity Poly-N-acetyllactosamine Biosynthetic Process Macromolecule Glycosylation Carbohydrate Binding Regulation Of Arachidonate Secretion Stress-induced Premature Senescence Phospholipase A2 Inhibitor Activity Positive Regulation Of Arachidonate Secretion Negative Regulation Of Fatty Acid Transport Cellular Response To Sterol Depletion SREBP Signaling Pathway
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