Mitochondria Phenome Knowledgebase

Gene Symbol ATPAF2
Ensembl ID ENSG00000171953 Entrez 91647
Gene Alias ATP12; ATP12p; LP3663; MGC29736 Subcellular Locations Mitochondria
Map Position 17p11.2 Subcell PMIDs 14757859
OMIM Gene 608918 Protein Complex Respiratory chain complex V (RCCV); RCCV assembly
Swissprot ID Q8N5M1 Swissprot Description ATP synthase mitochondrial F1 complex assembly factor 2
OMIM Disease ATPAF2 deficiency [604273]

49 Gene-Feature associations for Gene ATPAF2

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ATPAF2 604273 Dysmorphism-and-abnormalities micrognathia; short philtrum; low set ears; prominent nasal bridge; camptodactyly; craniofacial dysmorphism; contractures; rocker bottom feet; blepharophimosis; Cerebro oculofacioskeletal syndrome like miscellaneous 14757859
ATPAF2 604273 Failure-to-thrive miscellaneous 14757859
ATPAF2 604273 Genitourinary-diseases genitourinary #14757859
ATPAF2 604273 Growth-disorders miscellaneous #14757859
ATPAF2 604273 Hepatomegaly gastrointestinal 14757859
ATPAF2 604273 Hypotension hypotensive cardiovascular 14757859
ATPAF2 604273 Immune-system-diseases immunologic #14757859
ATPAF2 604273 Infections intercurrent immunologic 14757859
ATPAF2 604273 Intracranial-hemorrhages intraventricular haemorrhage; Cerebral ultrasound findings neurologic 14757859
ATPAF2 604273 Kidney-diseases kidney hypoplasia; hypoplastic kidneys genitourinary 14757859
ATPAF2 604273 Leukoencephalopathy white matter disease; white matter hypoplasia neurologic 14757859
ATPAF2 604273 Liver-diseases gastrointestinal #14757859
ATPAF2 604273 Mental-retardation neurologic 14757859
ATPAF2 604273 Metabolic-diseases metabolic #14757859
ATPAF2 604273 Methylglutaconic-aciduria increased urinary methylglutaconic acid metabolic 14757859
ATPAF2 604273 Microcephaly musculoskeletal 14757859
ATPAF2 604273 Muscle-hypertonia neurologic 14757859
ATPAF2 604273 Muscle-hypotonia progressive neurologic 14757859
ATPAF2 604273 Musculoskeletal-diseases musculoskeletal #14757859
ATPAF2 604273 Nervous-system-diseases neurologic #14757859
ATPAF2 604273 Neurobehavioral-manifestations neurologic #14757859
ATPAF2 604273 Neurologic-manifestations neurologic #14757859
ATPAF2 604273 Neuromuscular-manifestations neurologic #14757859
ATPAF2 604273 Organic-acids-abnormal lactic aciduria; elevated tricarboxylic acid cycle intermediates; methylglutaconic aciduria metabolic 14757859
ATPAF2 604273 RCCIV-deficiency liver miscellaneous 14757859
ATPAF2 604273 RCCV-deficiency liver; muscle miscellaneous 14757859
ATPAF2 604273 Renal-insufficiency due to kidney hypoplasia genitourinary 14757859
ATPAF2 604273 Seizures neurologic 14757859
ATPAF2 604273 Spinal-diseases kyphoscoliosis musculoskeletal 14757859
ATPAF2 604273 TCA-intermediates-elevated tricarboxylic acid cycle intermediates elevated; increased urinary fumarate metabolic 14757859
ATPAF2 604273 Urologic-diseases genitourinary #14757859
ATPAF2 604273 Vascular-diseases cardiovascular #14757859
ATPAF2 604273 Acid-base-imbalance metabolic #14757859
ATPAF2 604273 Acidosis lactic acidosis metabolic 14757859
ATPAF2 604273 Aminoacid-levels-abnormal elevated alanine metabolic 14757859
ATPAF2 604273 Aminoaciduria increased urinary amino acids metabolic 14757859
ATPAF2 604273 Blood-circulation-disorder poor peripheral circulation cardiovascular 14757859
ATPAF2 604273 Bone-diseases musculoskeletal #14757859
ATPAF2 604273 Brain-diseases neurologic #14757859
ATPAF2 604273 Cardiorespiratory-arrest cardiac arrest; several episodes cardiovascular 14757859
ATPAF2 604273 Cardiovascular-diseases cardiovascular #14757859
ATPAF2 604273 Central-nervous-system-diseases neurologic #14757859
ATPAF2 604273 Cerebral-atrophy cortical atrophy; subcortical; basal ganglia neurologic 14757859
ATPAF2 604273 Cerebrovascular-disorders neurologic #14757859
ATPAF2 604273 Congenital-heart-defects congenital heart defect; small left ventricle cardiovascular 14757859
ATPAF2 604273 Corpus-callosum-hypoplasia dysgenesis; absent anterior genu; absent rostrum neurologic 14757859
ATPAF2 604273 Craniofacial-abnormalities musculoskeletal #14757859
ATPAF2 604273 Developmental-delay psychomotor retardation neurologic 14757859
ATPAF2 604273 Digestive-system-diseases gastrointestinal #14757859

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