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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
carnitine palmitoyltransferase 2
Summary
- Gene Symbol
-
- CPT2
- Aliases
-
- CPTASE
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Acetylation
- Acyltransferase
- Direct protein sequencing
- Disease variant
- Fatty acid metabolism
- Mitochondrion inner membrane
- Proteomics identification
- Reference proteome
- Transit peptide
- Transport
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A1B0GTB8 |
|
| P23786 |
|
| A0A140VK13 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| positive regulation of cold-induced thermogenesis | ||
| fatty acid beta-oxidation | ||
| carnitine shuttle |
|
|
| in utero embryonic development | ||
| long-chain fatty acid metabolic process |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| mitochondrial inner membrane | ||
| mitochondrion | ||
| nucleolus | ||
| nucleoplasm |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| carnitine O-palmitoyltransferase activity | ||
| acyltransferase activity | ||
| protein binding | ||
| carnitine O-octanoyltransferase activity |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080153 | medium chain acyl-CoA dehydrogenase deficiency | |
| DOID:0080155 | very long chain acyl-CoA dehydrogenase deficiency | |
| DOID:0080199 | colorectal carcinoma | |
| DOID:0090129 | carnitine palmitoyltransferase I deficiency | |
| DOID:0110423 | dilated cardiomyopathy 1C | |
| DOID:0110424 | dilated cardiomyopathy 1CC | |
| DOID:0110425 | dilated cardiomyopathy 1A | |
| DOID:0110426 | dilated cardiomyopathy 1D | |
| DOID:0110427 | dilated cardiomyopathy 1V | |
| DOID:0110428 | dilated cardiomyopathy 1AA |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011675 | Arrhythmia |
| HP:0011936 | Decreased plasma total carnitine |
| HP:0011964 | Intermittent painful muscle spasms |
| HP:0011968 | Feeding difficulties |
| HP:0012380 | Reduced tissue carnitine O-palmitoyltransferase 2 activity |
| HP:0012443 | Abnormal brain morphology |
| HP:0012722 | Heart block |
| HP:0100295 | Muscle fiber atrophy |
| HP:0100807 | Long fingers |
| Disease ID | Disease Name |
|---|---|
| OMIM:608836 |
|
| OMIM:255110 |
|
| ORPHA:228308 |
|
| OMIM:614212 |
|
| ORPHA:228305 |
|
| ORPHA:228302 |
|
| OMIM:600649 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP000790
- Gene Name
- carnitine palmitoyltransferase 2
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 100442465 | PONAB18496 | ||
| 489585 | CANLF15696 | ||
| 112926120 | VULVU20335 | ||
| 100465139 | AILME16355 | ||
| 101093287 | FELCA20583 | ||
| 122227454 | PANLE11392 | ||
| 101335861 | TURTR07768 | ||
| 118899739 | BALMU23049 | ||
| 100665512 | LOXAF13586 | ||
| 100061061 | HORSE27203 |
