Showing entry for NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT018497
Protein NameNADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
Uniport IdQ8N183
GeneNDUFAF2
Gene Id91942
DomainNDUFA12
Pfam PF05071  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
5. Organismal Systems 5.10 Environmental adaptation hsa04714 Thermogenesis
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0045333 cellular respiration
Biological Process GO:0032981 mitochondrial respiratory chain complex I assembly
Biological Process GO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus
Biological Process GO:0072593 reactive oxygen species metabolic process
Biological Process GO:0022904 respiratory electron transport chain
molecular function GO:0009055 electron transfer activity
molecular function GO:0008137 NADH dehydrogenase (ubiquinone) activity
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-611105 Respiratory electron transport
R-HSA-6799198 Complex I biogenesis
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001125 BXGD000024 Acidosis, Lactic Nutritional and Metabolic Diseases
C0002871 BXGD000132 Anemia Hemic and Lymphatic Diseases
C0003578 BXGD000211 Apnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0007137 BXGD000445 Squamous cell carcinoma Neoplasms
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011849 BXGD000751 Diabetes Mellitus 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
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015930 BXGD001025 Fetal Distress Pathological Conditions, Signs and Symptoms
C0015934 BXGD001026 Fetal Growth Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018818 BXGD001236 Ventricular Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019209 BXGD001305 Hepatomegaly Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0020555 BXGD001431 Hypertrichosis Skin and Connective Tissue Diseases
C0020615 BXGD001445 Hypoglycemia Nutritional and Metabolic Diseases
C0021704 BXGD001510 Intelligence Behavior and Behavior Mechanisms
C0023264 BXGD001625 Leigh Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0023520 BXGD001678 Leukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0027819 BXGD002043 Neuroblastoma Neoplasms
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029132 BXGD002117 Disorder of the optic nerve Eye Diseases; Nervous System Diseases
C0030567 BXGD002240 Parkinson Disease Nervous System Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037369 BXGD002691 Smoking Behavior and Behavior Mechanisms
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0042963 BXGD003018 Vomiting Pathological Conditions, Signs and Symptoms
C0085584 BXGD003195 Encephalopathies Nervous System Diseases
C0085633 BXGD003216 Mood swings Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0151889 BXGD003498 Hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0162670 BXGD003970 Mitochondrial Myopathies Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0200635 BXGD004041 Lymphocyte Count measurement
C0232466 BXGD004543 Feeding difficulties
C0234162 BXGD004627 Cerebellar Dysmetria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0270612 BXGD006081 Leukoencephalopathy Nervous System Diseases
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0342776 BXGD007546 Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0410702 BXGD008447 Adolescent idiopathic scoliosis Musculoskeletal Diseases
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0554970 BXGD009428 Pallor of optic disc
C0557874 BXGD009444 Global developmental delay
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0596887 BXGD009648 mathematical ability
C0700095 BXGD009875 Central neuroblastoma Neoplasms; Nervous System Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0752107 BXGD010665 Brain Diseases, Metabolic, Inherited Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0752109 BXGD010666 Brain Diseases, Metabolic, Inborn Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0752110 BXGD010667 Central Nervous System Inborn Metabolic Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1167918 BXGD011779 Increased CSF lactate
C1263846 BXGD011897 Attention deficit hyperactivity disorder Mental Disorders
C1384666 BXGD012948 hearing impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C1445953 BXGD013080 Poor eye contact Mental Disorders
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836440 BXGD014115 Increased serum lactate Nutritional and Metabolic Diseases
C1837461 BXGD014234 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
C1838979 BXGD014349 MITOCHONDRIAL COMPLEX I DEFICIENCY Nutritional and Metabolic Diseases
C1839603 BXGD014388 Proximal tubulopathy Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1839888 BXGD014424 Decreased activity of the pyruvate dehydrogenase complex
C1847515 BXGD014869 Paroxysmal involuntary eye movements
C1849488 BXGD015058 Increased serum pyruvate
C1855483 BXGD015501 Progressive spastic paraplegia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C2677650 BXGD017382 Decreased activity of mitochondrial complex I
C3805839 BXGD019490 Central hypoventilation Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C4021546 BXGD020663 Abnormal mitochondria in muscle tissue
C4022748 BXGD020979 Focal T2 hyperintense brainstem lesion
C4024609 BXGD021340 Decreased activity of mitochondrial respiratory chain
C4024926 BXGD021478 Focal T2 hyperintense basal ganglia lesion
C4086165 BXGD022126 Childhood Neuroblastoma Neoplasms
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
C4721453 BXGD023744 Peripheral Nervous System Diseases Nervous System Diseases
C4748768 BXGD024021 MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0005989 Auraptene 298.38
BXGC0014139 R-(+)-Marmin 332.16
BXGC0015383 7-(6'r-Hydroxy-3',7'-Dimethyl-2'e,7'-Octadienyloxy)Coumarin 314.15
BXGC0031377 7-[(E,6R)-7-Chloro-6-Hydroxy-3,7-Dimethyloct-2-Enoxy]Chromen-2-One 350.13
BXGC0032047 7-[(2E)-3,7-Dimethylocta-2,6-Dienoxy]-6-Methoxychromen-2-One 328.17
BXGC0035162 Dehydromarmeline 335.19
BXGC0037648 (+)-9'-Isovaleroxylariciresinol 444.21
BXGC0039815 7-[(E,6R)-6-Hydroxy-7-Methoxy-3,7-Dimethyloct-2-Enoxy]Chromen-2-One 346.18
BXGC0045118 R-(+)-Marmin-6'-Octanoate 458.27
BXGC0045119 R-(+)-Marmin-6'-Undecanoate 500.31
BXGC0045120 R-(+)-Marmin-6'-palmitate 570.39
BXGC0045121 R-(+)-Marmin-6'-Linoleate 594.39
BXGC0045122 R-(+)-Marmin-6'-cis-vaccenoate 596.41
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