Showing entry for Nephrocystin-3


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT017254
Protein NameNephrocystin-3
Uniport IdQ7Z494
GeneNPHP3
Gene Id27031
DomainTPR_12
Pfam PF13176  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0003283 atrial septum development
Biological Process GO:0060271 cilium assembly
Biological Process GO:0060027 convergent extension involved in gastrulation
Biological Process GO:0071908 determination of intestine left/right asymmetry
Biological Process GO:0007368 determination of left/right symmetry
Biological Process GO:0071910 determination of liver left/right asymmetry
Biological Process GO:0035469 determination of pancreatic left/right asymmetry
Biological Process GO:0071909 determination of stomach left/right asymmetry
Biological Process GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry
Biological Process GO:0001947 heart looping
Biological Process GO:0001822 kidney development
Biological Process GO:0060993 kidney morphogenesis
Biological Process GO:0030324 lung development
Biological Process GO:0048496 maintenance of animal organ identity
Biological Process GO:0090090 negative regulation of canonical Wnt signaling pathway
Biological Process GO:0045494 photoreceptor cell maintenance
Biological Process GO:2000167 regulation of planar cell polarity pathway involved in neural tube closure
Biological Process GO:2000095 regulation of Wnt signaling pathway, planar cell polarity pathway
Biological Process GO:0072189 ureter development
Biological Process GO:0016055 Wnt signaling pathway
cellular component GO:0005929 cilium
cellular component GO:0005829 cytosol
cellular component GO:0005576 extracellular region
Reactome
Pathway Id Pathway Name
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-5617833 Cilium Assembly
R-HSA-5620920 Cargo trafficking to the periciliary membrane
R-HSA-5624138 Trafficking of myristoylated proteins to the cilium
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0003507 BXGD000203 Aortic Valve Stenosis Cardiovascular Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0008370 BXGD000534 Cholestasis Digestive System Diseases
C0009714 BXGD000624 Hepatic Fibrosis, Congenital Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0013274 BXGD000809 Patent ductus arteriosus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0014394 BXGD000914 Enuresis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0015397 BXGD000983 Disorder of eye Eye Diseases
C0016059 BXGD001043 Fibrosis Pathological Conditions, Signs and Symptoms
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0020258 BXGD001371 Hydrocephalus, Normal Pressure Nervous System Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0022354 BXGD001540 Jaundice, Obstructive Pathological Conditions, Signs and Symptoms
C0022661 BXGD001572 Kidney Failure, Chronic Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0022679 BXGD001575 Cystic kidney Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0022680 BXGD001576 Polycystic Kidney Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0023892 BXGD001715 Biliary cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0023895 BXGD001717 Liver diseases Digestive System Diseases
C0025322 BXGD001863 Premature Menopause Female Urogenital Diseases and Pregnancy Complications
C0030283 BXGD002200 Pancreatic Cyst Digestive System Diseases; Neoplasms
C0032617 BXGD002367 Polyuria Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0035309 BXGD002530 Retinal Diseases Eye Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0037221 BXGD002673 Situs Inversus Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0037231 BXGD002674 Sjogren-Larsson Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0040420 BXGD002861 Tonometry
C0079924 BXGD003103 Oligohydramnios Female Urogenital Diseases and Pregnancy Complications
C0085548 BXGD003183 Autosomal Recessive Polycystic Kidney Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0085602 BXGD003199 Polydipsia Pathological Conditions, Signs and Symptoms
C0086543 BXGD003294 Cataract Eye Diseases
C0152021 BXGD003520 Congenital heart disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0152427 BXGD003590 Polydactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0221210 BXGD004406 Congenital malrotation of intestine Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0235831 BXGD004773 Renal Cell Dysplasia Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0239946 BXGD005010 Fibrosis, Liver Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0265783 BXGD005575 Congenital hypoplasia of lung Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0266619 BXGD005701 Potter's facies
C0266631 BXGD005703 Accessory spleen Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0267818 BXGD005781 Bile duct proliferation Digestive System Diseases
C0267834 BXGD005784 Liver cyst Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms
C0267952 BXGD005794 Fibrosis of pancreas Digestive System Diseases
C0268731 BXGD006029 Renal glomerular disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0275814 BXGD006388 Streptococcal lymphadenitis of swine Infections; Hemic and Lymphatic Diseases
C0302142 BXGD006831 Deformity Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0311245 BXGD006869 Congenital cystic kidney disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0349588 BXGD007933 Short stature
C0403553 BXGD008293 Renal dysplasia and retinal aplasia (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
C0497552 BXGD009067 Congenital neurologic anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0524587 BXGD009232 Mean Corpuscular Volume (result)
C0542518 BXGD009278 Enlarged kidney
C0557874 BXGD009444 Global developmental delay
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600031 BXGD009681 Congenital absence of spleen Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases
C0687120 BXGD009837 Nephronophthisis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0854723 BXGD011026 Retinal Dystrophies Eye Diseases
C1261502 BXGD011856 Finding of Mean Corpuscular Hemoglobin
C1565489 BXGD013401 Renal Insufficiency Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1623038 BXGD013475 Cirrhosis Pathological Conditions, Signs and Symptoms
C1691228 BXGD013492 Cystic Kidney Diseases Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1839364 BXGD014371 Progressive visual loss
C1846980 BXGD014849 Senior-Loken Syndrome 3 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
C1856659 BXGD015628 Polysplenia
C1858392 BXGD015788 NEPHRONOPHTHISIS 3 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1858395 BXGD015789 Tubular atrophy
C1862475 BXGD016132 Abnormality of retinal pigmentation
C1865037 BXGD016289 Cone-shaped epiphysis
C1865872 BXGD016350 NEPHRONOPHTHISIS 2 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1868139 BXGD016492 Medullary cystic kidney disease 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1968619 BXGD016724 Renal corticomedullary cysts
C1968949 BXGD016744 Cakut Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1969372 BXGD016775 Tubulointerstitial fibrosis
C2316810 BXGD017030 Chronic kidney disease stage 5 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2673883 BXGD017228 RENAL-HEPATIC-PANCREATIC DYSPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C2673885 BXGD017229 Renal hepatic pancreatic dysplasia Dandy Walker cyst Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C2939174 BXGD018174 Medullary cystic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3536714 BXGD019069 Renal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3714506 BXGD019407 Meckel syndrome type 1 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C3714581 BXGD019415 Multicystic Dysplastic Kidney Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3715199 BXGD019450 RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
C4021086 BXGD020545 Abnormal biliary tract morphology
C4021657 BXGD020724 Abnormality of bone mineral density
C4022605 BXGD020934 Abnormal liver parenchyma morphology
C4025751 BXGD021775 Abnormality of the pancreas
C4277690 BXGD022377 Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C4521256 BXGD023058 Glomerulopathy Assessment
C4521759 BXGD023067 Tubular Atrophy Assessment
C4551493 BXGD023318 Situs inversus totalis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C4551979 BXGD023462 Nephronophthisis 1 Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002144 Tetradecanoic acid 228.37
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