carnitine palmitoyltransferase 2

Summary
Gene Symbol
  • CPT2
Aliases
  • CPTASE
Organism
Homo sapiens (human)
External Links
NCBI Gene
1376
HGNC
2330
KEGG Gene ID
hsa:1376
PubChem
1376
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Acyltransferase
  • Direct protein sequencing
  • Disease variant
  • Fatty acid metabolism
  • Mitochondrion inner membrane
  • Proteomics identification
  • Reference proteome
  • Transit peptide
  • Transport
Proteins
Displaying all 3 entries
UniProt Protein Name
A0A1B0GTB8
  • Carnitine palmitoyltransferase II
P23786
  • Carnitine palmitoyltransferase II
A0A140VK13
  • Carnitine palmitoyltransferase II
Gene Ontology (GO)
Displaying entry 6 - 6 of 6 in total
GO Term Evidence Code PMID
carnitine metabolic process
GO Hierarchy
Human Protein Atlas
ENSG00000157184

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K08766
Name
carnitine O-palmitoyltransferase 2 [EC:2.3.1.21]
References
Disease
Disease Ontology
Displaying entries 91 - 100 of 138 in total
DO ID Disease Name Source
DOID:2349 arteriosclerosis
DOID:2394 ovarian cancer
DOID:2746 glycogen storage disease V
DOID:2752 glycogen storage disease II
DOID:305 carcinoma
DOID:3146 lipid metabolism disorder
DOID:322 myelitis
DOID:3393 coronary artery disease
DOID:3459 breast carcinoma
DOID:3571 liver cancer
The Human Phenotype Ontology
Displaying entries 71 - 80 of 119 in total
HPO ID HPO Term
HP:0002913 Myoglobinuria
HP:0002987 Elbow flexion contracture
HP:0003077 Hyperlipidemia
HP:0003198 Myopathy
HP:0003201 Rhabdomyolysis
HP:0003215 Dicarboxylic aciduria
HP:0003236 Elevated circulating creatine kinase concentration
HP:0003259 Elevated circulating creatinine concentration
HP:0003326 Myalgia
HP:0003394 Muscle spasm
Displaying all 7 entries
Disease ID Disease Name
OMIM:608836
  • carnitine palmitoyl transferase II deficiency, neonatal form
OMIM:255110
  • carnitine palmitoyl transferase II deficiency, myopathic form
ORPHA:228308
  • carnitine palmitoyl transferase II deficiency, neonatal form
OMIM:614212
  • encephalopathy, acute, infection-induced, susceptibility to, 4
ORPHA:228305
  • carnitine palmitoyl transferase II deficiency, severe infantile form
ORPHA:228302
  • carnitine palmitoyl transferase II deficiency, myopathic form
OMIM:600649
  • carnitine palmitoyl transferase II deficiency, severe infantile form
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000790
Gene Name
carnitine palmitoyltransferase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024