Showing entry for AFG3-like protein 2


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT025025
Protein NameAFG3-like protein 2
Uniport IdQ9Y4W6
GeneAFG3L2
Gene Id10939
DomainA; A_lid_3; FtsH_ext; Peptidase_M41
Pfam PF00004   PF17862   PF06480   PF01434  
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:0007409 axonogenesis
Biological Process GO:0036444 calcium import into the mitochondrion
Biological Process GO:0042407 cristae formation
Biological Process GO:0033619 membrane protein proteolysis
Biological Process GO:0051560 mitochondrial calcium ion homeostasis
Biological Process GO:0006851 mitochondrial calcium ion transmembrane transport
Biological Process GO:0008053 mitochondrial fusion
Biological Process GO:0034982 mitochondrial protein processing
Biological Process GO:0048747 muscle fiber development
Biological Process GO:0042552 myelination
Biological Process GO:0021675 nerve development
Biological Process GO:0007528 neuromuscular junction development
Biological Process GO:0016540 protein autoprocessing
Biological Process GO:0065003 protein-containing complex assembly
Biological Process GO:0016485 protein processing
Biological Process GO:0006508 proteolysis
Biological Process GO:0040014 regulation of multicellular organism growth
Biological Process GO:0060013 righting reflex
molecular function GO:0005524 ATP binding
molecular function GO:0004222 metalloendopeptidase activity
molecular function GO:0008237 metallopeptidase activity
molecular function GO:0051082 unfolded protein binding
molecular function GO:0008270 zinc ion binding
cellular component GO:0005745 m-AAA complex
cellular component GO:0005743 mitochondrial inner membrane
cellular component GO:0005739 mitochondrion
Reactome
Pathway Id Pathway Name
R-HSA-382551 Transport of small molecules
R-HSA-8949215 Mitochondrial calcium ion transport
R-HSA-8949664 Processing of SMDT1
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003862 BXGD000230 Arthralgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
C0004134 BXGD000256 Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0004138 BXGD000258 Ataxias, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0007758 BXGD000475 Cerebellar Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0007760 BXGD000476 Cerebellar Diseases Nervous System Diseases
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0012569 BXGD000777 Diplopia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013421 BXGD000837 Dystonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0018790 BXGD001221 Cardiac Arrest Cardiovascular Diseases
C0020437 BXGD001381 Hypercalcemia Nutritional and Metabolic Diseases
C0020438 BXGD001382 Hypercalciuria Pathological Conditions, Signs and Symptoms
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0022575 BXGD001555 Keratoconjunctivitis Sicca Eye Diseases
C0024437 BXGD001772 Macular degeneration Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026837 BXGD001937 Muscle Rigidity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0027066 BXGD001966 Myoclonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0028738 BXGD002081 Nystagmus Eye Diseases; Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0029453 BXGD002154 Osteopenia Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0030583 BXGD002245 Parotitis Stomatognathic Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0034152 BXGD002467 Henoch-Schoenlein Purpura Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0034935 BXGD002497 Babinski Reflex
C0037771 BXGD002702 Paraparesis, Spastic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037773 BXGD002704 Spastic Paraplegia, Hereditary Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0040264 BXGD002857 Tinnitus Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0042571 BXGD002991 Vertigo Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0042870 BXGD003008 Vitamin D Deficiency Nutritional and Metabolic Diseases
C0043352 BXGD003045 Xerostomia Stomatognathic Diseases
C0087012 BXGD003318 Ataxia, Spinocerebellar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0162672 BXGD003972 MERRF Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0162674 BXGD003973 Chronic progressive external ophthalmoplegia Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0232769 BXGD004563 Abnormal gallbladder function
C0233565 BXGD004590 Bradykinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0233794 BXGD004618 Memory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0234162 BXGD004627 Cerebellar Dysmetria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234376 BXGD004659 Action Tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234518 BXGD004683 Slurred speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234979 BXGD004707 Dysdiadochokinesis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0235991 BXGD004802 Small for gestational age (disorder) Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C0239882 BXGD005004 Head tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0242422 BXGD005163 Parkinsonian Disorders Nervous System Diseases
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0270922 BXGD006134 Peripheral demyelinating neuropathy Immune System Diseases; Nervous System Diseases
C0271270 BXGD006178 Oculovestibuloauditory syndrome Eye Diseases; Nervous System Diseases; Cardiovascular Diseases
C0271390 BXGD006198 Nystagmus, End-Position
C0375206 BXGD007973 Hemiplegia/hemiparesis
C0393525 BXGD008081 Progressive cerebellar ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0427065 BXGD008604 Distal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0428465 BXGD008629 Serum lipids high (finding)
C0442874 BXGD008814 Neuropathy Nervous System Diseases
C0454596 BXGD008842 Dysarthria, Spastic Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0494475 BXGD009030 Tonic - clonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0497202 BXGD009055 Abnormal ocular motility
C0524851 BXGD009246 Neurodegenerative Disorders Nervous System Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0542476 BXGD009276 Forgetful Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0740279 BXGD009973 Cerebellar atrophy
C0750937 BXGD010259 Ataxia, Appendicular Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751093 BXGD010317 Dystonia, Limb Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0751401 BXGD010427 Ophthalmoparesis Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0751603 BXGD010521 Autosomal Recessive Hereditary Spastic Paraplegia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0751651 BXGD010539 Mitochondrial Diseases Nutritional and Metabolic Diseases
C0751776 BXGD010585 Atypical Inclusion-Body Disease Nervous System Diseases
C0751777 BXGD010586 Familial Progressive Myoclonic Epilepsy Nervous System Diseases
C0751778 BXGD010587 Myoclonic Epilepsies, Progressive Nervous System Diseases
C0751779 BXGD010588 Action Myoclonus-Renal Failure Syndrome Nervous System Diseases
C0751780 BXGD010589 Biotin-Responsive Encephalopathy Nervous System Diseases
C0751781 BXGD010590 Dentatorubral-Pallidoluysian Atrophy Nervous System Diseases
C0751782 BXGD010591 May-White Syndrome Nervous System Diseases
C0751837 BXGD010604 Gait Ataxia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0752120 BXGD010668 Spinocerebellar Ataxia Type 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0752121 BXGD010669 Spinocerebellar Ataxia Type 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0752122 BXGD010670 Spinocerebellar Ataxia Type 4 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0752123 BXGD010671 Spinocerebellar Ataxia Type 5 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0752124 BXGD010672 Spinocerebellar Ataxia Type 6 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0752125 BXGD010673 Spinocerebellar Ataxia Type 7 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0948163 BXGD011511 Leukoaraiosis Pathological Conditions, Signs and Symptoms
C1112256 BXGD011655 Sensorimotor neuropathy
C1263857 BXGD011900 Peripheral axonal neuropathy Nervous System Diseases
C1321329 BXGD012430 Slowed saccades
C1836150 BXGD014082 Gait imbalance
C1836296 BXGD014105 Muscle Weakness Lower Limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836392 BXGD014111 Dysmetric saccades
C1836696 BXGD014151 Lower limb hyperreflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1846564 BXGD014828 SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1848736 BXGD014970 Distal amyotrophy
C1849140 BXGD015011 SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1849156 BXGD015017 Spastic Ataxia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C1853249 BXGD015325 SPINOCEREBELLAR ATAXIA 28 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1854494 BXGD015409 Slow progression
C1855650 BXGD015521 Birth length less than 3rd percentile
C1861403 BXGD016045 Variable expressivity
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C1963167 BXGD016686 Memory Impairment, CTCAE 3.0
C1963184 BXGD016688 Nystagmus, CTCAE 3.0
C3280977 BXGD018874 SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
C3489393 BXGD018928 Hiatal Hernia Pathological Conditions, Signs and Symptoms
C3489733 BXGD018945 Oculomotor apraxia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases
C3711370 BXGD019380 Spastic Paraplegia Type 7 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4020730 BXGD020473 Increased intramyocellular lipid droplets
C4020732 BXGD020474 Mitochondrial abnormalities
C4021546 BXGD020663 Abnormal mitochondria in muscle tissue
C4021759 BXGD020762 Generalized myoclonic seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4023180 BXGD021139 Type 1 muscle fiber atrophy
C4087347 BXGD022144 Autosomal dominant cerebellar ataxia
C4281993 BXGD022418 Neonatal respiratory distress Respiratory Tract Diseases
C4317146 BXGD022730 Acid reflux
C4551520 BXGD023336 Intention tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4551521 BXGD023337 Kinetic tremor Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4553743 BXGD023548 Spasticity, CTCAE
C4553765 BXGD023551 Memory Impairment, CTCAE 5.0
C4554036 BXGD023557 Nystagmus, CTCAE 5.0
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
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