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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:0110460 | dilated cardiomyopathy 2A | |
| DOID:0110461 | X-linked dilated cardiomyopathy | |
| DOID:0111277 | mitochondrial trifunctional protein deficiency | |
| DOID:0111338 | isolated elevated serum creatine phosphokinase levels | |
| DOID:10241 | thalassemia | |
| DOID:10283 | prostate cancer | |
| DOID:10286 | prostate carcinoma | |
| DOID:1029 | familial periodic paralysis | |
| DOID:1074 | kidney failure | |
| DOID:10907 | microcephaly |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0008315 | Decreased plasma free carnitine |
| HP:0008682 | Renal tubular epithelial necrosis |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0009058 | Increased muscle lipid content |
| HP:0010511 | Long toe |
| HP:0011220 | Prominent forehead |
| HP:0011309 | Tapered toe |
| HP:0011461 | Fetal onset |
| HP:0011462 | Young adult onset |
| HP:0011463 | Childhood onset |
| 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 |
|---|---|---|---|
| 100414414 | CALJA39548 | ||
| 105596024 | CERAT06835 | ||
| 102137160 | MACFA22341 | ||
| 714150 | MACMU22625 | ||
| 105495080 | MACNE02364 | ||
| 101016112 | PAPAN20108 | ||
| 105534872 | MANLE01686 | ||
| 101147523 | GORGO19996 | ||
| 100983874 | PANPA01409 | ||
| 737945 | PANTR21132 |
