Showing entry for NPC intracellular cholesterol transporter 2


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT025881
Protein NameNPC intracellular cholesterol transporter 2
Uniport IdP61916
GeneNPC2
Gene Id10577
DomainE1_DerP2_DerF2
Pfam PF02221  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
4. Cellular Processes 4.1 Transport and catabolism hsa04142 Lysosome
5. Organismal Systems 5.4 Digestive system hsa04979 Cholesterol metabolism
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0033344 cholesterol efflux
Biological Process GO:0042632 cholesterol homeostasis
Biological Process GO:0008203 cholesterol metabolic process
Biological Process GO:0030301 cholesterol transport
Biological Process GO:0046836 glycolipid transport
Biological Process GO:0032367 intracellular cholesterol transport
Biological Process GO:0032366 intracellular sterol transport
Biological Process GO:0034383 low-density lipoprotein particle clearance
Biological Process GO:0043312 neutrophil degranulation
Biological Process GO:0015914 phospholipid transport
Biological Process GO:0019747 regulation of isoprenoid metabolic process
Biological Process GO:0009615 response to virus
Biological Process GO:0015918 sterol transport
molecular function GO:0015485 cholesterol binding
molecular function GO:0120020 cholesterol transfer activity
molecular function GO:0019899 enzyme binding
molecular function GO:0032934 sterol binding
cellular component GO:0035578 azurophil granule lumen
cellular component GO:0005783 endoplasmic reticulum
cellular component GO:0070062 extracellular exosome
cellular component GO:0005576 extracellular region
cellular component GO:0005615 extracellular space
cellular component GO:0043202 lysosomal lumen
cellular component GO:0005764 lysosome
Reactome
Pathway Id Pathway Name
R-HSA-168249 Innate Immune System
R-HSA-168256 Immune System
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-382551 Transport of small molecules
R-HSA-6798695 Neutrophil degranulation
R-HSA-8964038 LDL clearance
R-HSA-8964043 Plasma lipoprotein clearance
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007115 BXGD000432 Malignant neoplasm of thyroid Neoplasms; Endocrine System Diseases
C0007133 BXGD000442 Carcinoma, Papillary Neoplasms
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007384 BXGD000463 Cataplexy Nervous System Diseases; Mental Disorders
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011265 BXGD000708 Presenile dementia Nervous System Diseases; Mental Disorders
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0019214 BXGD001307 Hepatosplenomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases
C0020305 BXGD001374 Hydrops Fetalis Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C0020443 BXGD001385 Hypercholesterolemia Nutritional and Metabolic Diseases
C0023794 BXGD001700 Lipoidosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0023795 BXGD001701 Lipoid Proteinosis of Urbach and Wiethe Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0023890 BXGD001713 Liver Cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0024115 BXGD001732 Lung diseases Respiratory Tract Diseases
C0025202 BXGD001832 melanoma Neoplasms
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027765 BXGD002033 nervous system disorder Nervous System Diseases
C0028064 BXGD002068 Niemann-Pick Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0032285 BXGD002344 Pneumonia Infections; Respiratory Tract Diseases
C0033975 BXGD002447 Psychotic Disorders Mental Disorders
C0034050 BXGD002452 Pulmonary Alveolar Proteinosis Respiratory Tract Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0036161 BXGD002580 Sandhoff Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0036489 BXGD002620 Sea-Blue Histiocyte Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038002 BXGD002723 Splenomegaly Pathological Conditions, Signs and Symptoms
C0038271 BXGD002742 Stereotyped Behavior Behavior and Behavior Mechanisms
C0038273 BXGD002743 Stereotypic Movement Disorder Mental Disorders
C0038868 BXGD002781 Progressive supranuclear palsy Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0039292 BXGD002807 Tangier Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0085078 BXGD003118 Lysosomal Storage Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C0085400 BXGD003165 Neurofibrillary degeneration (morphologic abnormality)
C0085605 BXGD003200 Liver Failure Digestive System Diseases
C0220630 BXGD004302 Adult Liver Carcinoma Digestive System Diseases; Neoplasms
C0220756 BXGD004338 Niemann-Pick Disease, Type C Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C0235031 BXGD004714 Neurologic Symptoms Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0238463 BXGD004938 Papillary thyroid carcinoma Neoplasms; Endocrine System Diseases
C0262404 BXGD005236 Cerebellar degeneration Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0279000 BXGD006622 Liver and Intrahepatic Biliary Tract Carcinoma Digestive System Diseases; Neoplasms
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0345904 BXGD007745 Malignant neoplasm of liver Digestive System Diseases; Neoplasms
C0476273 BXGD008986 Respiratory distress Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0497327 BXGD009061 Dementia Nervous System Diseases; Mental Disorders
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0542223 BXGD009274 Loss of speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0549473 BXGD009384 Thyroid carcinoma Neoplasms; Endocrine System Diseases
C0557874 BXGD009444 Global developmental delay
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0751072 BXGD010312 Frontotemporal Lobar Degeneration Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1285291 BXGD012170 Fetal ascites Pathological Conditions, Signs and Symptoms
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1445957 BXGD013081 Serum total cholesterol measurement
C1623038 BXGD013475 Cirrhosis Pathological Conditions, Signs and Symptoms
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1843366 BXGD014575 NIEMANN-PICK DISEASE, TYPE C2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C1843369 BXGD014577 Vertical supranuclear gaze palsy
C1843373 BXGD014578 Foam cells in visceral organs and CNS
C1856560 BXGD015617 Bone-marrow foam cells
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1859236 BXGD015867 Prolonged neonatal jaundice Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2315100 BXGD017021 Pediatric failure to thrive Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders
C2931822 BXGD018068 Nasopharyngeal carcinoma Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C2985280 BXGD018223 Blood Protein Measurement
C3179455 BXGD018552 Niemann-Pick Disease, Type C1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C4529962 BXGD023178 Fatty Liver Disease
C4553743 BXGD023548 Spasticity, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0038316 Cholesterol 386.35
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein