B4GAT1 and SCN2A

		B4GAT1	SCN2A
Description		beta-1,4-glucuronyltransferase 1	sodium voltage-gated channel alpha subunit 2
Image		No pdb structure
GO Annotations	Cellular Component	Golgi Membrane Golgi Apparatus Membrane Extracellular Exosome	Voltage-gated Sodium Channel Complex Plasma Membrane Membrane Axon Node Of Ranvier Monoatomic Ion Channel Complex
	Molecular Function	Protein Binding N-acetyllactosaminide Beta-1,3-N-acetylglucosaminyltransferase Activity Glucuronosyltransferase Activity Transferase Activity Glycosyltransferase Activity Metal Ion Binding	Monoatomic Ion Channel Activity Voltage-gated Sodium Channel Activity Monoatomic Cation Channel Activity Sodium Channel Activity Protein Binding Calmodulin Binding
	Biological Process	Protein Glycosylation Axon Guidance Keratan Sulfate Proteoglycan Biosynthetic Process Poly-N-acetyllactosamine Biosynthetic Process Protein O-linked Glycosylation Via Mannose	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		Keratan sulfate biosynthesis Defective LARGE causes MDDGA6 and MDDGB6 Matriglycan biosynthesis on DAG1	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			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		4 interacting genes: LCOR OGT PPP1CC RUNX1	5 interacting genes: ANK3 ARHGEF10L MPP3 RNF130 SCN4B
Entrez ID		11041	6326
HPRD ID		09270	03133
Ensembl ID		ENSG00000174684	ENSG00000136531
Uniprot IDs		O43505	Q99250
PDB IDs			2KAV 4JPZ 4RLY 6BUT 6J8E
Enriched GO Terms of Interacting Partners?		Transcription Corepressor Binding Circadian Regulation Of Gene Expression Protein N-acetylglucosaminyltransferase Complex Negative Regulation Of Non-canonical Inflammasome Complex Assembly	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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