CPT2 (carnitine palmitoyltransferase 2)

2008-05-01  

Identity

HGNC
LOCATION
1p32.3
LOCUSID
ALIAS
CPT1,CPTASE,IIAE4
FUSION GENES

Other Information

Locus ID:

NCBI: 1376
MIM: 600650
HGNC: 2330
Ensembl: ENSG00000157184

Variants:

dbSNP: 1376
ClinVar: 1376
TCGA: ENSG00000157184
COSMIC: CPT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157184ENST00000371486P23786
ENSG00000157184ENST00000371486A0A140VK13
ENSG00000157184ENST00000635862A0A1B0GWC0
ENSG00000157184ENST00000635888A0A1B0GUB8
ENSG00000157184ENST00000636239A0A1B0GUD9
ENSG00000157184ENST00000636867A0A1B0GTB8
ENSG00000157184ENST00000636891A0A1B0GV75
ENSG00000157184ENST00000636935A0A1B0GTM0
ENSG00000157184ENST00000637252A0A1B0GVF3
ENSG00000157184ENST00000638135A0A1B0GTL9

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
PPAR signaling pathwayKEGGko03320
Fatty acid degradationKEGGhsa00071
PPAR signaling pathwayKEGGhsa03320
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Import of palmitoyl-CoA into the mitochondrial matrixREACTOMER-HSA-200425
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
166711042006Genetic risk factors associated with lipid-lowering drug-induced myopathies.45
166701532006Coimmunoprecipitation of FAT/CD36 and CPT I in skeletal muscle increases proportionally with fat oxidation after endurance exercise training.31
171793902007Overexpression of carnitine palmitoyltransferase I in skeletal muscle in vivo increases fatty acid oxidation and reduces triacylglycerol esterification.27
186451632008Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.26
110018052000Genomics of the human carnitine acyltransferase genes.21
156428482005Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.21
208100312011Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.19
203707972010High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.18
219139032012Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.18

Citation

Dessen P

CPT2 (carnitine palmitoyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50150/cpt2