ENSG00000120437


Homo sapiens

Features
Gene ID: ENSG00000120437
  
Biological name :ACAT2
  
Synonyms : ACAT2 / acetyl-CoA acetyltransferase 2 / Q9BWD1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 6
Strand: 1
Band: q25.3
Gene start: 159760328
Gene end: 159779055
  
Corresponding Affymetrix probe sets: 209608_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000356015
NCBI entrez gene - 39     See in Manteia.
OMIM - 100678
RefSeq - NM_005891
RefSeq - NM_001303253
RefSeq Peptide - NP_001290182
RefSeq Peptide - NP_005882
swissprot - Q9BWD1
Ensembl - ENSG00000120437
  
Related genetic diseases (OMIM): 614055 - ?ACAT2 deficiency, 614055
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 acat2ENSDARG00000007127Danio rerio
 ACAT2ENSGALG00000011659Gallus gallus
 Acat2ENSMUSG00000023832Mus musculus
 Acat3ENSMUSG00000062480Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACAT1 / P24752 / acetyl-CoA acetyltransferase 1ENSG0000007523943
ACAA2 / P42765 / acetyl-CoA acyltransferase 2ENSG0000016731542


Protein motifs (from Interpro)
Interpro ID Name
 IPR002155  Thiolase
 IPR016039  Thiolase-like
 IPR020610  Thiolase, active site
 IPR020613  Thiolase, conserved site
 IPR020616  Thiolase, N-terminal
 IPR020617  Thiolase, C-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IC
 biological_processGO:0006635 fatty acid beta-oxidation IBA
 biological_processGO:0006695 cholesterol biosynthetic process TAS
 biological_processGO:0008152 metabolic process IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005739 mitochondrion IBA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0003985 acetyl-CoA C-acetyltransferase activity IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups IEA
 molecular_functionGO:0016747 transferase activity, transferring acyl groups other than amino-acyl groups IEA


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001290 Generalized hypotonia "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators]
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 HP:0002072 Chorea "Chorea (Greek for dance ) refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators]
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 HP:0002151 Increased serum lactate "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators]
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 HP:0003542 Increased serum pyruvate "An abnormal increase in the concentration of pyruvate in the blood. Pyruvate is involved in energy metabolism, forming part of glycolysis and the citric acid cycle." [HPO:curators]
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 HP:0003745 Sporadic 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000120437 ACAT2 / Q9BWD1 / acetyl-CoA acetyltransferase 2  / complex






 

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