ANK3 and SCNN1B

Data Source:
HPRD (in vivo)

		ANK3	SCNN1B
Description		ankyrin 3	sodium channel epithelial 1 subunit beta
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GO Annotations	Cellular Component	Lysosome Endoplasmic Reticulum Golgi Apparatus Cytosol Plasma Membrane Bicellular Tight Junction Basal Plasma Membrane Cell Surface Intercalated Disc Spectrin-associated Cytoskeleton Basolateral Plasma Membrane Lateral Plasma Membrane Sarcoplasmic Reticulum Z Disc T-tubule Dendrite Neuromuscular Junction Node Of Ranvier Sarcolemma Neuron Projection Costamere Axon Initial Segment Postsynaptic Membrane	Plasma Membrane Integral Component Of Plasma Membrane External Side Of Plasma Membrane Apical Plasma Membrane Cytoplasmic Vesicle Membrane Sodium Channel Complex Extracellular Exosome Plasma Membrane Protein Complex
	Molecular Function	Structural Constituent Of Cytoskeleton Protein Binding Cytoskeletal Protein Binding Cytoskeletal Anchor Activity Spectrin Binding Protein-macromolecule Adaptor Activity Ion Channel Binding Cadherin Binding	Protein Binding Ligand-gated Sodium Channel Activity WW Domain Binding
	Biological Process	Mitotic Cytokinesis Endoplasmic Reticulum To Golgi Vesicle-mediated Transport Plasma Membrane Organization Cytoskeleton Organization Signal Transduction Axonogenesis Neuromuscular Junction Development Positive Regulation Of Gene Expression Positive Regulation Of Cell Communication By Electrical Coupling Positive Regulation Of Sodium Ion Transport Magnesium Ion Homeostasis Neuronal Action Potential Positive Regulation Of Homotypic Cell-cell Adhesion Golgi To Plasma Membrane Protein Transport Regulation Of Potassium Ion Transport Establishment Of Protein Localization Positive Regulation Of Membrane Potential Cellular Response To Magnesium Ion Membrane Assembly Protein Localization To Plasma Membrane Maintenance Of Protein Location In Plasma Membrane Positive Regulation Of Protein Targeting To Membrane Protein Localization To Axon Positive Regulation Of Membrane Depolarization During Cardiac Muscle Cell Action Potential Negative Regulation Of Delayed Rectifier Potassium Channel Activity Positive Regulation Of Sodium Ion Transmembrane Transporter Activity Positive Regulation Of Cation Channel Activity	Sodium Ion Transport Excretion Gene Expression Artery Smooth Muscle Contraction Ion Transmembrane Transport Sodium Ion Transmembrane Transport Epithelial Fluid Transport Response To Drug Multicellular Organismal Water Homeostasis Sensory Perception Of Taste Sodium Ion Homeostasis Cellular Response To Aldosterone
Pathways		Interaction between L1 and Ankyrins Interaction between L1 and Ankyrins COPI-mediated anterograde transport	Stimuli-sensing channels
Drugs			Triamterene Amiloride
Diseases			Liddle syndrome Hyperkalemic distal renal tubular acidosis (RTA type 4), including the following two diseases: Pseudohypoaldosteronism type I (PHA1); Pseudohypoaldosteronism type II (Gordon's syndrome) Bronchiectasis with or without elevated sweat chloride
GWAS		Adventurousness ( 30643258) Amyotrophic lateral sclerosis (sporadic) ( 24529757) Autism spectrum disorder, attention deficit-hyperactivity disorder, bipolar disorder, major depressive disorder, and schizophrenia (combined) ( 23453885) Behavioral disturbance or psychiatric symptoms and prion disease ( 25897833) Bipolar disorder ( 22182935 21926972 18711365 24618891 31043756 28072414 20351715) Bipolar disorder or major depressive disorder ( 20351715) Bipolar I disorder ( 31043756) Brain morphology (MOSTest) ( 32665545) Chronotype ( 30696823) Cleft lip with or without cleft palate x maternal periconceptional smoking interaction (parent of origin effect) ( 31372216) Coronary artery calcified atherosclerotic plaque (130 HU threshold) in type 2 diabetes ( 29221444) Diastolic blood pressure ( 30224653) Heel bone mineral density ( 30598549) Height ( 31562340) Metabolite levels ( 23823483) Plasma amyloid beta peptide concentrations (ABx-42) ( 24535457) Psychotic experience ( 31553412) Refractive error ( 32231278) Schizophrenia ( 20185149) Third ventricle volume ( 31530798) Venous thromboembolism adjusted for sickle cell variant rs77121243-T ( 28203683) Voxel-wise structural brain imaging measurements in Alzheimerâ€™s disease ( 30584014)	Kidney stones ( 31729369)
Interacting Genes		18 interacting genes: FADD FAS GABARAP HOOK1 KCNC1 MAP1LC3A MAP1LC3C MAPK6 NAB2 PIK3R1 PLEC SCN1B SCN2A SCNN1B SMAD2 SMAD3 SPTBN4 SRPK2	14 interacting genes: ANK3 CNTN1 COMMD10 EPN1 HECW1 ITCH NEDD4 NEDD4L NFASC SCNN1A SCNN1D SCNN1G STX1A WWP2
Entrez ID		288	6338
HPRD ID		02715	02861
Ensembl ID		ENSG00000151150	ENSG00000168447
Uniprot IDs		Q12955 Q8NAK2	B2R812 P51168
PDB IDs		4O6X	6BQN 6WTH
Enriched GO Terms of Interacting Partners?
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