SCNN1A and NPC2

		SCNN1A	NPC2
Description		sodium channel epithelial 1 subunit alpha	NPC intracellular cholesterol transporter 2
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GO Annotations	Cellular Component	Acrosomal Vesicle Cytoplasm Cytosol Plasma Membrane Cilium External Side Of Plasma Membrane Membrane Apical Plasma Membrane Cytoplasmic Vesicle Motile Cilium Sodium Channel Complex Cell Projection Ciliary Membrane Extracellular Exosome Sperm Principal Piece	Extracellular Region Extracellular Space Lysosome Endoplasmic Reticulum Azurophil Granule Lumen Lysosomal Lumen Extracellular Exosome
	Molecular Function	Sodium Channel Activity Protein Binding Ligand-gated Sodium Channel Activity WW Domain Binding	Protein Binding Cholesterol Binding Enzyme Binding Sterol Binding Cholesterol Transfer Activity
	Biological Process	Monoatomic Ion Transport Sodium Ion Transport Intracellular Sodium Ion Homeostasis Regulation Of Blood Pressure Monoatomic Ion Transmembrane Transport Sodium Ion Transmembrane Transport Multicellular Organismal-level Water Homeostasis Sensory Perception Of Salty Taste Sensory Perception Of Sour Taste Sodium Ion Homeostasis Cellular Response To Acidic PH Sodium Ion Import Across Plasma Membrane Cellular Response To Aldosterone Cellular Response To Vasopressin	Lipid Metabolic Process Lipid Transport Steroid Metabolic Process Cholesterol Metabolic Process Response To Virus Gene Expression Cholesterol Storage Phospholipid Transport Sterol Transport Sterol Metabolic Process Regulation Of Isoprenoid Metabolic Process Cholesterol Transport Intracellular Sterol Transport Intracellular Cholesterol Transport Cholesterol Efflux Cholesterol Homeostasis Glycolipid Transport
Pathways		Stimuli-sensing channels Sensory perception of salty taste	Neutrophil degranulation LDL clearance
Drugs		Triamterene Amiloride
Diseases		Bronchiectasis with or without elevated sweat chloride Hyperkalemic distal renal tubular acidosis (RTA type 4), including the following two diseases: Pseudohypoaldosteronism type I (PHA1); Pseudohypoaldosteronism type II (Gordon's syndrome)	Niemann-Pick type C disease (NPC), including: Niemann-Pick disease, type C1; Niemann-Pick disease, type C2
GWAS		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) Spleen volume ( 34128465)	Intraocular pressure ( 31959993) Refractive error ( 32231278) Soluble receptor for advanced glycation end-product levels ( 26915486)
Interacting Genes		18 interacting genes: COMMD10 CSNK2A1 EPN1 HECW1 ITCH NEDD4 NEDD4L NPC2 SCNN1B SCNN1G SERP1 SNX3 STX1A TSG101 UBE2I USP10 WWP1 WWP2	19 interacting genes: AREL1 BARD1 BRCA1 CTSW DHDDS ECT2 EIF2B2 EOLA1 ERRFI1 LIG4 PAXIP1 PDIA6 SCNN1A SCRN1 SSR1 TMED10 TRIM14 USP4 VASH1
Entrez ID		6337	10577
HPRD ID		02575	03008
Ensembl ID		ENSG00000111319	ENSG00000119655
Uniprot IDs		P37088	A0A024R6C0 G3V3E8 P61916
PDB IDs		2M3O 6BQN 6WTH	5KWY 6W5V
Enriched GO Terms of Interacting Partners?		Modification-dependent Protein Catabolic Process Ubiquitin-dependent Protein Catabolic Process Proteolysis Involved In Protein Catabolic Process Protein Modification By Small Protein Conjugation Macromolecule Catabolic Process Negative Regulation Of Potassium Ion Export Across Plasma Membrane Post-translational Protein Modification Potassium Channel Inhibitor Activity Ubiquitin-protein Transferase Activity Regulation Of Potassium Ion Export Across Plasma Membrane Transmembrane Transporter Binding Protein Monoubiquitination Proteolysis Ubiquitin Protein Ligase Activity Protein Modification Process Negative Regulation Of Potassium Ion Transmembrane Transport Protein Ubiquitination Import Into Cell Sodium Ion Import Across Plasma Membrane Protein Metabolic Process Negative Regulation Of Potassium Ion Transport Catabolic Process Sensory Perception Of Salty Taste Extracellular Exosome Macromolecule Metabolic Process Biological Process Involved In Interaction With Host Cellular Response To Aldosterone Sodium Channel Complex Protein Catabolic Process Sodium Channel Inhibitor Activity Sensory Perception Of Sour Taste Cellular Response To Vasopressin Regulation Of Protein Catabolic Process Sodium Ion Transport Establishment Of Protein Localization To Vacuole Regulation Of Dendrite Morphogenesis Proteasome-mediated Ubiquitin-dependent Protein Catabolic Process Regulation Of Potassium Ion Transmembrane Transport Negative Regulation Of Cation Transmembrane Transport Receptor Internalization Positive Regulation Of Protein Catabolic Process Protein K63-linked Ubiquitination Negative Regulation Of Monoatomic Ion Transmembrane Transport Cytosol Cellular Response To Mineralocorticoid Stimulus Ligand-gated Sodium Channel Activity Regulation Of Protein Transport Endocytosis Endosome Negative Regulation Of Sodium Ion Transport	Histone H2AK127 Ubiquitin Ligase Activity Histone H2AK129 Ubiquitin Ligase Activity Response To Ionizing Radiation Cellular Response To Ionizing Radiation BRCA1-BARD1 Complex BRCA1-B Complex Nuclear Ubiquitin Ligase Complex BRCA1-C Complex BRCA1-A Complex Cellular Response To Radiation Ubiquitin-modified Histone Reader Activity Response To Radiation DNA Strand Resection Involved In Replication Fork Processing DNA Recombination Response To Stress Cellular Response To Stress Regulation Of Cell Cycle G2/M Phase Transition Regulation Of DNA Damage Checkpoint Macromolecule Metabolic Process Protein K6-linked Ubiquitination Protein Metabolic Process Ubiquitin Protein Ligase Activity Condensed Chromosome Homologous Recombination Regulation Of Protein Metabolic Process Negative Regulation Of MRNA 3'-end Processing Regulation Of Cytokinesis, Actomyosin Contractile Ring Assembly Establishment Of Integrated Proviral Latency Adenosine Receptor Binding Cytosol To ERGIC Protein Transport Protein Localization To ERGIC COPI-coated Vesicle Budding Polyprenol Biosynthetic Process Dehydrodolichyl Diphosphate Synthase Complex Ditrans,polycis-polyprenyl Diphosphate Synthase [(2E,6E)-farnesyl Diphosphate Specific] Activity Adipose Tissue Development Mitotic G2/M Transition Checkpoint Post-translational Protein Modification DNA Repair Establishment Of Viral Latency Protein K33-linked Ubiquitination Uterine Epithelium Development Response To 1-oleoyl-sn-glycerol 3-phosphate
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