NPC2

Gene Name		Niemann-Pick disease, type C2
Image		No pdb structure
Gene Ontology Annotations	Cellular Component	Lysosome Endoplasmic Reticulum Extracellular Vesicular Exosome
	Molecular Function	Protein Binding Cholesterol Binding Enzyme Binding
	Biological Process	Cholesterol Metabolic Process Response To Virus Phospholipid Transport Regulation Of Isoprenoid Metabolic Process Cholesterol Transport Intracellular Sterol Transport Intracellular Cholesterol Transport Cholesterol Efflux Cholesterol Homeostasis Glycolipid Transport
Pathways
Drugs
Diseases
GWAS
Protein-protein Interactions		7 interactors: BARD1 BRCA1 DHDDS ECT2 LIG4 PAXIP1 USP4
Entrez ID		10577
HPRD ID		03008
Ensembl ID		ENSG00000119655
Uniprot IDs		E7EMS2 P61916
PDB IDs
Enriched GO Terms of Interacting Partners?		Response To Ionizing Radiation Protein K6-linked Ubiquitination Response To Radiation Positive Regulation Of Histone H3-K4 Methylation Positive Regulation Of Histone Acetylation DNA Repair Regulation Of Histone H3-K4 Methylation Positive Regulation Of Peptidyl-lysine Acetylation Positive Regulation Of Protein Acetylation Cellular Response To Stress Regulation Of Protein Ubiquitination DNA Recombination Positive Regulation Of Histone Methylation Cellular Response To DNA Damage Stimulus Regulation Of Histone Acetylation Regulation Of Histone Methylation DNA Metabolic Process Regulation Of Protein Metabolic Process Response To Abiotic Stimulus Positive Regulation Of Histone Modification Positive Regulation Of Protein Metabolic Process DNA Damage Response, Signal Transduction By P53 Class Mediator Positive Regulation Of Histone H4-K20 Methylation Positive Regulation Of Histone H3-K36 Methylation DNA Ligation Involved In DNA Recombination Positive Regulation Of Histone H4-K16 Acetylation Cell Cycle Signal Transduction In Response To DNA Damage Regulation Of Apoptotic Process Signal Transduction By P53 Class Mediator Regulation Of Cell Death Regulation Of Histone Modification Negative Regulation Of MRNA 3'-end Processing Positive Regulation Of Histone H3-K9 Acetylation Cellular Response To Metal Ion Positive Regulation Of Protein Ubiquitination Cellular Response To Inorganic Substance Cellular Protein Modification Process Regulation Of Microtubule Cytoskeleton Organization Positive Regulation Of DNA Metabolic Process Double-strand Break Repair Positive Regulation Of Histone H4 Acetylation Negative Regulation Of Histone H3-K4 Methylation Response To Stress Regulation Of Microtubule-based Process Protein Polyubiquitination Regulation Of Cellular Protein Metabolic Process Dolichyl Diphosphate Biosynthetic Process Cellular Response To Indole-3-methanol Regulation Of Chromosome Organization
Tagcloud ?		9years assume autosomal carriers connection deterioration distinctive expand gaucher gba gd glucocerebrosidase heterozygous lysosomal mentioned miglustat mind neurodegenerative niemann npc1 pick psen1 psen2 recessive sometimes storage trying worth