Gene table of CPT2 : carnitine palmitoyltransferase 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with CPT2OMIM linkNumber of associated genesgenes
608836CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATALClinVar, OMIM link to OMIM 1CPT2
255110CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSETClinVar, OMIM, HUMSAVAR link to OMIM 1CPT2
PS610551ENCEPHALOPATHY, ACUTE, INFECTION-INDUCEDClinVar, OMIM link to OMIM 7TLR3, CPT2, IRF3, TICAM1, UNC93B1, TRAF3, RANBP2
600649CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILEClinVar, OMIM, HUMSAVAR link to OMIM 1CPT2

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Annotation of the gene CPT2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Fatty acid metabolismhsa012127.07
PPAR signaling pathwayhsa033206.56
Fatty acid degradationhsa000717.15
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
PPARA activates gene expressionR-HSA-19897816.18
Import of palmitoyl-CoA into the mitochondrial matrixR-HSA-2004259.52
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)R-HSA-4002066.14
MetabolismR-HSA-14307282.34
Fatty acid, triacylglycerol, and ketone body metabolismR-HSA-5357345.44
Metabolism of lipids and lipoproteinsR-HSA-5568333.79
Associated GO terms for Molecular function
GO termGO IDGO IC
O-palmitoyltransferase activityGO:00164168.13
catalytic activityGO:00038241.05
transferase activityGO:00167401.95
carnitine O-acyltransferase activityGO:00164067.95
carnitine O-palmitoyltransferase activityGO:00040958.35
transferase activity, transferring acyl groups other than amino-acyl groupsGO:00167474.37
O-acyltransferase activityGO:00083745.85
transferase activity, transferring acyl groupsGO:00167464.2
palmitoyltransferase activityGO:00164096.15