NPC2 and SCNN1A

Data Source:
BioGRID (enzymatic study)

		NPC2	SCNN1A
Description		NPC intracellular cholesterol transporter 2	sodium channel epithelial 1 subunit alpha
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GO Annotations	Cellular Component	Extracellular Region Extracellular Space Lysosome Endoplasmic Reticulum Azurophil Granule Lumen Lysosomal Lumen Extracellular Exosome	Acrosomal Vesicle Cytoplasm Plasma Membrane Integral Component Of Plasma Membrane Apical Plasma Membrane Motile Cilium Sodium Channel Complex Ciliary Membrane Extracellular Exosome Sperm Principal Piece
	Molecular Function	Protein Binding Cholesterol Binding Enzyme Binding Sterol Binding Cholesterol Transfer Activity	Protein Binding Ligand-gated Sodium Channel Activity WW Domain Binding
	Biological Process	Cholesterol Metabolic Process Response To Virus Phospholipid Transport Sterol Transport Regulation Of Isoprenoid Metabolic Process Cholesterol Transport Intracellular Sterol Transport Intracellular Cholesterol Transport Cholesterol Efflux Low-density Lipoprotein Particle Clearance Cholesterol Homeostasis Neutrophil Degranulation Glycolipid Transport Intermembrane Lipid Transfer	Ion Transmembrane Transport Sodium Ion Transmembrane Transport Multicellular Organismal Water Homeostasis Response To Stimulus Sensory Perception Of Taste Sodium Ion Homeostasis
Pathways		Neutrophil degranulation LDL clearance	Stimuli-sensing channels
Drugs			Triamterene Amiloride
Diseases		Niemann-Pick type C disease (NPC), including: Niemann-Pick disease, type C1; Niemann-Pick disease, type C2	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		Advanced glycation end-product levels ( 26915486) Blood protein levels ( 29875488) Intraocular pressure ( 31959993) Refractive error ( 32231278)	Adverse response to drug ( 30420678) Alopecia areata ( 25608926) Itch intensity from mosquito bite adjusted by bite size ( 28199695) Obesity (early onset extreme) ( 23563609) Primary biliary cirrhosis ( 22961000)
Interacting Genes		9 interacting genes: BARD1 BRCA1 DHDDS ECT2 ERRFI1 LIG4 PAXIP1 TRIM14 USP4	17 interacting genes: COMMD10 CSNK2A1 EPN1 HECW1 ITCH NEDD4 NEDD4L SCNN1B SCNN1G SERP1 SNX3 STX1A TSG101 UBE2I USP10 WWP1 WWP2
Entrez ID		10577	6337
HPRD ID		03008	02575
Ensembl ID		ENSG00000119655	ENSG00000111319
Uniprot IDs		A0A024R6C0 P61916	P37088
PDB IDs		5KWY 6W5V	2M3O 6BQN 6WTH
Enriched GO Terms of Interacting Partners?
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