CPT2 Gene Summary [Human]
The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | CPT2 |
| Official Name | carnitine palmitoyltransferase 2 [Source:HGNC Symbol;Acc:HGNC:2330] |
| Ensembl ID | ENSG00000157184 |
| Bio databases IDs | |
| Aliases | carnitine palmitoyltransferase 2 |
| Synonyms | Carnitine o-palmitoyltransferase, Carnitine o-palmitoyltransferase ii, carnitine palmitoyltransferase 2, Carnitine Palmitoyltransferase II, CPT1, CPTASE, CPTII, IIAE4, Mitochondrial carnitine palmitoyltransferase II |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CPT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Choline/Carnitine o-acyltransferase
- carnitine O-palmitoyltransferase
- enzyme
- protein binding
- transferase, transferring acyl groups
Pathways
Biological processes and signaling networks where the CPT2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- myelodysplastic syndrome
- liver cancer
- epithelial cancer
- susceptibility to infection-induced acute encephalopathy type 4
- infantile carnitine palmitoyltransferase II deficiency
- carnitine palmitoyltransferase II deficiency
- hepatocellular carcinoma
- heart disease
- lethal neonatal carnitine palmitoyltransferase II deficiency
- late-onset carnitine palmitoyltransferase II deficiency
regulates
- oleic acid
- fatty acid
- 3-hydroxy-11Z-octadecenoylcarnitine
- carnitine
- C18:1 acylcarnitine
- 14:0-DC acylcarnitine
- C14:1 acylcarnitine
- triacylglycerol
- CPT1B
- C18:2 acylcarnitine
role in cell
- production in
- oxidation in
- acetylation in
- lipotoxicity in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria
- cytosol
- mitochondrial membrane
- mitochondrial matrix
- mitochondrial inner membrane
- nucleoplasm
- nucleoli
- exosomes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human CPT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fatty acid beta-oxidation
- long-chain fatty acid metabolic process
- in utero embryonic development
- carnitine shuttle
- carnitine metabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- nucleolus
- mitochondrial inner membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- transferase activity, transferring acyl groups
- protein binding
- carnitine O-palmitoyltransferase activity
- carnitine O-octanoyltransferase activity