Gene
cpt2
- ID
- ZDB-GENE-030131-6719
- Name
- carnitine palmitoyltransferase 2
- Symbol
- cpt2 Nomenclature History
- Previous Names
-
- wu:fa03e08
- wu:fb54a02
- zgc:101627
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have carnitine O-palmitoyltransferase activity. Predicted to be involved in fatty acid beta-oxidation. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in brain disease; lipid metabolism disorder; and muscular disease. Is expressed in liver. Orthologous to human CPT2 (carnitine palmitoyltransferase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101627 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| carnitine palmitoyltransferase II deficiency | Alliance | CPT II deficiency, infantile | 600649 |
| carnitine palmitoyltransferase II deficiency | Alliance | CPT II deficiency, lethal neonatal | 608836 |
| carnitine palmitoyltransferase II deficiency | Alliance | CPT II deficiency, myopathic, stress-induced | 255110 |
| {Encephalopathy, acute, infection-induced, 4, susceptibility to} | 614212 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR039551 | Choline/carnitine acyltransferase domain |
| Family | IPR000542 | Acyltransferase ChoActase/COT/CPT |
| Homologous_superfamily | IPR023213 | Chloramphenicol acetyltransferase-like domain superfamily |
| Homologous_superfamily | IPR042231 | Choline/Carnitine o-acyltransferase, domain 2 |
| Homologous_superfamily | IPR042572 | Carnitine o-acyltransferase, N-terminal |
Domain Details Per Protein
| Protein | Length | Acyltransferase ChoActase/COT/CPT | Carnitine o-acyltransferase, N-terminal | Chloramphenicol acetyltransferase-like domain superfamily | Choline/carnitine acyltransferase domain | Choline/Carnitine o-acyltransferase, domain 2 |
|---|---|---|---|---|---|---|
|
UniProtKB:B2GQ15
|
668 | |||||
|
UniProtKB:Q5U3U3
|
669 |
Interactions and Pathways
No data available
Plasmids
No data available