Gene:
CPT2
carnitine palmitoyltransferase 2

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  CPT1
Alternate Symbols:  CPTASE
PharmGKB Accession Id: PA26849

Details

Cytogenetic Location: chr1 : p32.3 - p32.3
GP mRNA Boundary: chr1 : 53662101 - 53679869
GP Gene Boundary: chr1 : 53652101 - 53682869
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Import of palmitoyl-CoA into the mitochondrial matrix - (Reactome via Pathway Interaction Database)

Publications related to CPT2: 2

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic risk factors associated with lipid-lowering drug-induced myopathies. Muscle & nerve. 2006. Vladutiu Georgirene D, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects. Archives of neurology. 2005. Deschauer Marcus, et al. PubMed

LinkOuts

Entrez Gene:
1376
OMIM:
255110
600649
600650
608836
UCSC Genome Browser:
NM_000098
RefSeq RNA:
NM_000098
RefSeq Protein:
NP_000089
RefSeq DNA:
AC_000044
AC_000133
NC_000001
NG_008035
NT_032977
NW_001838579
NW_921351
UniProtKB:
CPT2_HUMAN (P23786)
Ensembl:
ENSG00000157184
GenAtlas:
CPT2
GeneCard:
CPT2
MutDB:
CPT2
ALFRED:
LO063086X
HuGE:
CPT2
Comparative Toxicogenomics Database:
1376
ModBase:
P23786
HumanCyc Gene:
HS08187
HGNC:
2330

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