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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 (Carnitine Palmitoyltransferase 2) is a Protein Coding gene. Diseases associated with CPT2 include Carnitine Palmitoyltransferase Ii Deficiency, Infantile and Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and PPAR signaling pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring acyl groups and carnitine O-palmitoyltransferase activity. An important paralog of this gene is CRAT.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004095 | carnitine O-palmitoyltransferase activity | NAS | 1988962 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016746 | transferase activity, transferring acyl groups | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005743 | mitochondrial inner membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | ||
2 | Fatty Acyl-CoA Biosynthesis | ||
3 | AMPK Enzyme Complex Pathway |
AMPK Enzyme Complex Pathway
-
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4 | Metabolism |
.40
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5 | Mitochondrial LC-Fatty Acid Beta-Oxidation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006631 | fatty acid metabolic process | IEA | -- |
GO:0006635 | fatty acid beta-oxidation | IEA,IBA | -- |
GO:0006853 | carnitine shuttle | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Perhexiline | Approved, Investigational | Pharma | Target, inhibitor | 8 | ||
L-Carnitine | Approved, Investigational | Pharma | Target | 0 | ||
Glycerol | Approved, Investigational | Pharma | 202 | |||
lauric acid | Approved, Experimental | Pharma | Agonist | 0 | ||
Capric acid | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
4,8 Dimethylnonanoyl carnitine |
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Caproic acid |
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142-62-1 |
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hexadecanoyl-CoA |
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L-Palmitoylcarnitine |
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2364-67-2 |
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Palmityl-CoA |
|
1763-10-6 |
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Compound | Action | Cas Number |
---|---|---|
Etomoxir | (CPT)-1 and DGAT activity inhibitor | 124083-20-1 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CPT2 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CPT2 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | CPT2 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Cpt2 17 33 32 |
|
||
rat (Rattus norvegicus) |
Mammalia | Cpt2 32 |
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||
platypus (Ornithorhynchus anatinus) |
Mammalia | CPT2 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | CPT2 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CPT2 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | CPT2 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | cpt2 32 |
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MGC76152 32 |
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African clawed frog (Xenopus laevis) |
Amphibia | cg2107-prov 32 |
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zebrafish (Danio rerio) |
Actinopterygii | cpt2 33 32 |
|
OneToOne | |
-- 32 |
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African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008907 32 |
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||
fruit fly (Drosophila melanogaster) |
Insecta | CG2107 33 34 32 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | cpt-2 33 32 |
|
OneToOne | |
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AER224W 32 |
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||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YAT1 35 33 32 |
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K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C04169g 32 |
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bread mold (Neurospora crassa) |
Ascomycetes | NCU01611 32 |
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sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToOne |
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1009503062 | uncertain-significance, Carnitine palmitoyltransferase II deficiency, infantile | 53,213,510(+) | G/A | coding_sequence_variant, missense_variant | |
rs1040318543 | uncertain-significance, Carnitine palmitoyltransferase II deficiency | 53,213,476(+) | T/C | coding_sequence_variant, missense_variant | |
rs1044059386 | uncertain-significance, Carnitine palmitoyltransferase II deficiency | 53,196,978(+) | G/A/C | coding_sequence_variant, missense_variant | |
rs1056438 | benign, Carnitine palmitoyltransferase II deficiency | 53,214,206(+) | T/C | downstream_transcript_variant | |
rs1057517473 | likely-pathogenic, Carnitine palmitoyltransferase II deficiency, infantile, Carnitine palmitoyltransferase II deficiency, lethal neonatal, Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced | 53,211,321(+) | T/G | intron_variant, splice_donor_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2422213 | CNV | duplication | 17116639 |
nsv1001535 | CNV | gain | 25217958 |
nsv829871 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
carnitine palmitoyltransferase ii deficiency, infantile |
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carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced |
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carnitine palmitoyltransferase ii deficiency, lethal neonatal |
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encephalopathy, acute, infection-induced 4 |
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arthritis |
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