CPT2 - carnitine palmitoyltransferase 2 Gene
Also Known as CPT1; IIAE4; CPTASE
Species: Homo sapiens
About CPT2
This gene has 12 transcripts (splice variants), 223 orthologues, 6 paralogues and is associated with 8 phenotypes. Ubiquitous expression in liver (RPKM 19.1), colon (RPKM 17.3) and 25 other tissues.
Summary
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]
CPT2 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_000098.3 | NP_000089.1 | carnitine O-palmitoyltransferase 2, mitochondrial isoform 1 precursor |
| NM_001330589.2 | NP_001317518.1 | carnitine O-palmitoyltransferase 2, mitochondrial isoform 2 precursor |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables acyltransferase activity |
IDA
IDA: Inferred from direct assay
|
20538056 | GOA |
| enables carnitine O-palmitoyltransferase activity |
EXP
EXP: Inferred from Experiment
|
7711730 | GOA |
| enables carnitine O-palmitoyltransferase activity |
IDA
IDA: Inferred from direct assay
|
20538056 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
28514442 | GOA |
| Biological Process GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| involved in carnitine metabolic process |
IDA
IDA: Inferred from direct assay
|
20538056 | GOA |
| involved in fatty acid beta-oxidation |
IDA
IDA: Inferred from direct assay
|
20538056 | GOA |
| involved in long-chain fatty acid metabolic process |
IDA
IDA: Inferred from direct assay
|
20538056 | GOA |
CPT2 Protein Structure
Carn_acyltransf: Choline/Carnitine o-acyltransferase (48 - 649)
- 0
- 200
- 400
- 600
- 658 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
carnitine O-palmitoyltransferase 2, mitochondrial |
|
CPT2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Verweise |
|---|---|---|---|---|---|---|---|
|
Intra
|
CPT2 | P23786 | CYSRT1 | Homo sapiens | A8MQ03 | 32296183 | |
|
Intra
|
CPT2 | P23786 | CYSRT1 | Homo sapiens | A8MQ03 | 32296183 | |
|
Intra
|
CPT2 | P23786 | OTX1 | Homo sapiens | P32242 | 32296183 | |
|
Intra
|
CPT2 | P23786 | OTX1 | Homo sapiens | P32242 | 32296183 | |
|
Intra
|
CPT2 | P23786 | OTX1 | Homo sapiens | P32242 | 32296183 |
CPT2 Antibodies
| Art. -Nr. | Produktname | Anwendung | Reactivity |
|---|---|---|---|
| HY-P82970 | CPT2 Antibody (YA2715) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P82970A | CPT2 Antibody (YA2715)(PBS only) | WB, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P84201 | CPT2 Antibody (YA3898) | WB, FC, ELISA | Human, Mouse, Rat |
| HY-P84201A | CPT2 Antibody (YA3898)(PBS only) | WB, FC, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
|
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
|
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
|
| Encephalopathy, Acute, Infection-Induced 4 |
|
|
| Chronic Pain |
|
|
| Dysautonomia |
|
|
| Arthritis |
|
|
| Pancytopenia |
|
|
| Nervous System Disease |
|
|
| Congenital Nervous System Abnormality |
|
|
| Myoglobinuria |
|
|
| Carnitine-Acylcarnitine Translocase Deficiency |
|
|
| Myoglobinuria, Recurrent |
|
|
| Glycogen Storage Disease V |
|
|
| Hypoglycemia |
|
|
| Glycogen Storage Disease Iv |
|
|
| Immunodeficiency 34 |
|
|
| Myopathy |
|
|
| Malignant Hyperthermia |
|
|
| Abetalipoproteinemia |
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
|
| Carnitine Palmitoyltransferase I Deficiency |
|
|
| Mitochondrial Trifunctional Protein Deficiency |
|
|
| Dandy-Walker Syndrome |
|
|
| Dilated Cardiomyopathy |
|
|
| Carnitine Deficiency, Systemic Primary |
|
|
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
|
| Acute Kidney Failure |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
|
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
|
| Isovaleric Acidemia |
|
|
| Reye Syndrome |
|
|
| Glycogen Storage Disease |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness |
|
|
| Alpha-Methylacetoacetic Aciduria |
|
|
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
|
| Propionic Acidemia |
|
|
| Chanarin-Dorfman Syndrome |
|
|
| Acute Hemorrhagic Encephalitis |
|
|
| Methylmalonic Acidemia |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Zellweger Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CPT2 | RGD | RGD:2398 |
| Canis familiaris | CPT2 | VGNC | VGNC:39582 |
| Macaca mulatta | CPT2 | VGNC | VGNC:71477 |
| Mus musculus | CPT2 | MGD | MGI:109176 |
| Felis catus | CPT2 | VGNC | VGNC:61149 |
| Bos taurus | CPT2 | VGNC | VGNC:27679 |
| Others | CPT2 | NCBI |