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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
acetyl-CoA acetyltransferase 2
Summary
- Gene Symbol
-
- ACAT2
- Aliases
-
- Acetyl-CoA acetyltransferase, cytosolic
- acetoacetyl Coenzyme A thiolase
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Acetylation
- Acyltransferase
- Alternative splicing
- Cytoplasm
- Direct protein sequencing
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9BWD1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| lipid metabolic process | ||
| fatty acid beta-oxidation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| cytosol |
|
|
| cytoplasm | ||
| mitochondrion | ||
| extracellular exosome |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| acetyl-CoA C-acetyltransferase activity | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050589 | inflammatory bowel disease | |
| DOID:0060810 | syndromic X-linked intellectual disability type 10 | |
| DOID:0110892 | inflammatory bowel disease 1 | |
| DOID:10211 | cholelithiasis | |
| DOID:10787 | premature menopause | |
| DOID:11151 | cholecystolithiasis | |
| DOID:11755 | choledocholithiasis | |
| DOID:12859 | choreatic disease | |
| DOID:13739 | nutmeg liver | |
| DOID:14723 | beta-ketothiolase deficiency |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001290 | Generalized hypotonia |
| HP:0002072 | Chorea |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0003542 | Increased serum pyruvate |
| HP:0003745 | Sporadic |
| Disease ID | Disease Name |
|---|---|
| OMIM:614055 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP002155
- Gene Name
- acetyl-CoA acetyltransferase 2
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 115613425 | STRHB13451 |
