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Standards Ontologies Notations
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
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 1 - 5 of 6 in total
GO Term Evidence Code PMID
positive regulation of cold-induced thermogenesis
fatty acid beta-oxidation
carnitine shuttle
in utero embryonic development
long-chain fatty acid metabolic process
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
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.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas
KEGG BRITE Database
Orthology
K08766
Name
carnitine O-palmitoyltransferase 2 [EC:2.3.1.21]
References
Rhea

RHEA:12661

(R)-carnitine + hexadecanoyl-CoA
O-hexadecanoyl-(R)-carnitine + CoA
Enzyme
PMID
Disease
Disease Ontology
Displaying entries 31 - 40 of 138 in total
DO ID Disease Name Source
DOID:0110439 dilated cardiomyopathy 1P
DOID:0110441 dilated cardiomyopathy 2B
DOID:0110442 dilated cardiomyopathy 1Q
DOID:0110443 dilated cardiomyopathy 1B
DOID:0110444 dilated cardiomyopathy 1X
DOID:0110445 dilated cardiomyopathy 1KK
DOID:0110446 dilated cardiomyopathy 1W
DOID:0110447 dilated cardiomyopathy 1DD
DOID:0110448 dilated cardiomyopathy 1HH
DOID:0110449 dilated cardiomyopathy 1M
The Human Phenotype Ontology
Displaying entries 111 - 119 of 119 in total
HPO ID HPO Term
HP:0011675 Arrhythmia
HP:0011936 Decreased plasma total carnitine
HP:0011964 Intermittent painful muscle spasms
HP:0011968 Feeding difficulties
HP:0012380 Reduced tissue carnitine O-palmitoyltransferase 2 activity
HP:0012443 Abnormal brain morphology
HP:0012722 Heart block
HP:0100295 Muscle fiber atrophy
HP:0100807 Long fingers
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
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000790
Gene Name
carnitine palmitoyltransferase 2
Ortholog
Displaying entries 71 - 80 of 89 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
101821336 FICAL10181
103224794 CHLSB08871
108531224 RHIBE11368
104669303 RHIRO08012
100594710 NOMLE37173
114598982 PODMU04667
107549124 SINGR03445
107585892 SINGR38036
106833186 EQUAS19047
116817927 CHEAB16934
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024