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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:0003449 | Cold-induced muscle cramps |
| HP:0003455 | Elevated circulating long chain fatty acid concentration |
| HP:0003546 | Exercise intolerance |
| HP:0003552 | Muscle stiffness |
| HP:0003573 | Increased total bilirubin |
| HP:0003593 | Infantile onset |
| HP:0003710 | Exercise-induced muscle cramps |
| HP:0003738 | Exercise-induced myalgia |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0004756 | Ventricular tachycardia |
| 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 |
|---|---|---|---|
| 101560512 | OCTDE17295 | ||
| 101709766 | HETGA17439 | ||
| 101873302 | MELUD04783 | ||
| 100017404 | MONDO13148 | ||
| 100559925 | ANOCA06243 | ||
| 103670701 | URSMA14864 | ||
| 114024910 | VOMUR21233 | ||
| 113889864 | BOBOX07144 | ||
| 102532414 | VICPA04147 | ||
| 100956504 | OTOGA09210 |
