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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:0014667 | disease of metabolism | |
| DOID:0050700 | cardiomyopathy | |
| DOID:0050729 | Chanarin-Dorfman syndrome | |
| DOID:0050778 | Meckel syndrome | |
| DOID:0050908 | myelodysplastic syndrome | |
| DOID:0060067 | Pearson syndrome | |
| DOID:0060235 | carnitine palmitoyltransferase II deficiency | |
| DOID:0060358 | multiple acyl-CoA dehydrogenase deficiency | |
| DOID:0080000 | muscular disease | |
| DOID:0080108 | myoglobinuria |
- 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 |
|---|---|---|---|
| 178025 | WB:WBGene00011122 | ||
| 38355 | FB:FBgn0035383 | ||
| 102353513 | LATCH02224 | ||
| 100005717 | ZFIN:ZDB-GENE-030131-6719 | DANRE43307 | |
| 125806102 | ASTMX08855 | ||
| 115158680 | SALTR108808 | ||
| 115555428 | GADMO07643 | ||
| 101167863 | ORYLA13397 | ||
| 100706914 | ORENI43152 | ||
| 115591759 | SPAAU67857 |
