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Aliases for CPT2 Gene

Aliases for CPT2 Gene

  • Carnitine Palmitoyltransferase 2 2 3 5
  • Carnitine Palmitoyltransferase II 2 3 4
  • EC 4 61
  • CPT II 3 4
  • CPT1 3 4
  • Carnitine O-Palmitoyltransferase 2, Mitochondrial 3
  • Testicular Secretory Protein Li 13 3
  • CPTASE 3
  • IIAE4 3

External Ids for CPT2 Gene

Previous HGNC Symbols for CPT2 Gene

  • CPT1

Previous GeneCards Identifiers for CPT2 Gene

  • GC01P053297
  • GC01P052551
  • GC01P053020
  • GC01P053032
  • GC01P053374
  • GC01P053434
  • GC01P053662
  • GC01P051777

Summaries for CPT2 Gene

Entrez Gene Summary for CPT2 Gene

  • The protein encoded by this gene is a nuclear protein which is transported to the mitochondrial inner membrane. Together with carnitine palmitoyltransferase I, the encoded protein oxidizes long-chain fatty acids in the mitochondria. Defects in this gene are associated with mitochondrial long-chain fatty-acid (LCFA) oxidation disorders. [provided by RefSeq, Jul 2008]

GeneCards Summary for CPT2 Gene

CPT2 (Carnitine Palmitoyltransferase 2) is a Protein Coding gene. Diseases associated with CPT2 include Myopathy Due To Cpt Ii Deficiency and Cpt Deficiency, Hepatic, Type Ii. Among its related pathways are PPAR signaling pathway and AMPK Enzyme Complex Pathway. GO annotations related to this gene include transferase activity, transferring acyl groups and carnitine O-palmitoyltransferase activity.

Gene Wiki entry for CPT2 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CPT2 Gene

Genomics for CPT2 Gene

Regulatory Elements for CPT2 Gene

Enhancers for CPT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around CPT2 on UCSC Golden Path with GeneCards custom track

Promoters for CPT2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for CPT2 Gene

53,196,429 bp from pter
53,214,197 bp from pter
17,769 bases
Plus strand

Genomic View for CPT2 Gene

Genes around CPT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CPT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CPT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CPT2 Gene

Proteins for CPT2 Gene

  • Protein details for CPT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Carnitine O-palmitoyltransferase 2, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2R6S0
    • Q5SW68
    • Q9BQ26

    Protein attributes for CPT2 Gene

    658 amino acids
    Molecular mass:
    73777 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CPT2 Gene

Post-translational modifications for CPT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for CPT2 Gene

Protein Domains for CPT2 Gene

Suggested Antigen Peptide Sequences for CPT2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the carnitine/choline acetyltransferase family.
  • Belongs to the carnitine/choline acetyltransferase family.
genes like me logo Genes that share domains with CPT2: view

No data available for Gene Families for CPT2 Gene

Function for CPT2 Gene

Molecular function for CPT2 Gene

GENATLAS Biochemistry:
carnitine palmitoyltransferase of the inner mitochondrial membrane 2,liver isoform,malonyl CoA insensitive,converting palmitoylcarnitine into palmitoyl-CoA (palmitoyl-CoA shuttle system)
UniProtKB/Swiss-Prot CatalyticActivity:
Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine.

Enzyme Numbers (IUBMB) for CPT2 Gene

Gene Ontology (GO) - Molecular Function for CPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004095 carnitine O-palmitoyltransferase activity NAS 1988962
genes like me logo Genes that share ontologies with CPT2: view
genes like me logo Genes that share phenotypes with CPT2: view

Human Phenotype Ontology for CPT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CPT2 Gene

MGI Knock Outs for CPT2:
  • Cpt2 tm1b(KOMP)Wtsi

Animal Model Products

CRISPR Products

miRNA for CPT2 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for CPT2 Gene

Localization for CPT2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CPT2 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

Jensen Localization Image for CPT2 Gene COMPARTMENTS Subcellular localization image for CPT2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2
peroxisome 2

Gene Ontology (GO) - Cellular Components for CPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IDA --
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane TAS --
genes like me logo Genes that share ontologies with CPT2: view

Pathways & Interactions for CPT2 Gene

genes like me logo Genes that share pathways with CPT2: view

UniProtKB/Swiss-Prot P23786-CPT2_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for CPT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006635 fatty acid beta-oxidation IEA --
GO:0006853 carnitine shuttle TAS --
genes like me logo Genes that share ontologies with CPT2: view

No data available for SIGNOR curated interactions for CPT2 Gene

Drugs & Compounds for CPT2 Gene

(24) Drugs for CPT2 Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Perhexiline Approved Pharma inhibitor, Target 8
Glycerol Approved, Experimental Pharma 210
L-Carnitine Approved Pharma Target 0
pyruvate Approved Nutra 34
Caprylic acid Experimental Pharma 0

(21) Additional Compounds for CPT2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4,8 Dimethylnonanoyl carnitine
  • 4,8-Dimethylnonanoylcarnitine
Caproic acid
  • 1-Hexanoate
  • 1-Hexanoic acid
  • 1-Pentanecarboxylate
  • 1-Pentanecarboxylic acid
  • Butylacetate
  • (+)-palmitoylcarnitine
  • (3S)-3-hexadecanoyloxy-4-(trimethylammonio)butanoate
  • (3S)-3-hexadecanoyloxy-4-(trimethylammonio)butanoic acid
  • (3S)-3-palmitoyloxy-4-(trimethylammonio)butanoate
  • (3S)-3-palmitoyloxy-4-(trimethylammonio)butanoic acid
  • Hexadecanoyl CoA
  • Hexadecanoyl Coenzyme A
  • Palmitoyl CoA
  • Palmitoyl coenzyme a
  • Palmitoyl-CoA

(1) ApexBio Compounds for CPT2 Gene

Compound Action Cas Number
Etomoxir (CPT)-1 and DGAT activity inhibitor 124083-20-1
genes like me logo Genes that share compounds with CPT2: view

Transcripts for CPT2 Gene

Unigene Clusters for CPT2 Gene

Carnitine palmitoyltransferase 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CPT2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
SP1: -
SP3: - -

Relevant External Links for CPT2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CPT2 Gene

mRNA expression in normal human tissues for CPT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CPT2 Gene

This gene is overexpressed in Liver (x5.0).

Protein differential expression in normal tissues from HIPED for CPT2 Gene

This gene is overexpressed in Liver (7.4) and Nasal epithelium (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CPT2 Gene

Protein tissue co-expression partners for CPT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CPT2 Gene:


SOURCE GeneReport for Unigene cluster for CPT2 Gene:

genes like me logo Genes that share expression patterns with CPT2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CPT2 Gene

Orthologs for CPT2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CPT2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CPT2 34
  • 88.8 (n)
  • 86.78 (a)
CPT2 35
  • 87 (a)
(Canis familiaris)
Mammalia CPT2 34
  • 88.05 (n)
  • 87.58 (a)
CPT2 35
  • 83 (a)
(Mus musculus)
Mammalia Cpt2 34
  • 86.32 (n)
  • 87.23 (a)
Cpt2 16
Cpt2 35
  • 87 (a)
(Pan troglodytes)
Mammalia CPT2 34
  • 99.44 (n)
  • 98.94 (a)
CPT2 35
  • 99 (a)
(Rattus norvegicus)
Mammalia Cpt2 34
  • 85.01 (n)
  • 83.59 (a)
(Monodelphis domestica)
Mammalia CPT2 35
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia CPT2 35
  • 75 (a)
(Gallus gallus)
Aves CPT2 34
  • 72.92 (n)
  • 75.81 (a)
CPT2 35
  • 71 (a)
(Anolis carolinensis)
Reptilia CPT2 35
  • 72 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia cpt2 34
  • 69.34 (n)
  • 73.39 (a)
MGC76152 34
African clawed frog
(Xenopus laevis)
Amphibia cg2107-prov 34
(Danio rerio)
Actinopterygii -- 34
cpt2 34
  • 67.19 (n)
  • 70.98 (a)
cpt2 35
  • 68 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2107 36
  • 46 (a)
CG2107 34
  • 53.43 (n)
  • 47.27 (a)
CG2107 35
  • 44 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008907 34
  • 54.71 (n)
  • 52.02 (a)
(Caenorhabditis elegans)
Secernentea cpt-2 34
  • 50.55 (n)
  • 46.38 (a)
cpt-2 35
  • 45 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER224W 34
  • 46.47 (n)
  • 35.44 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04169g 34
  • 44.15 (n)
  • 35.64 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAT1 34
  • 45.6 (n)
  • 35.93 (a)
YAT1 35
  • 28 (a)
YAT1 37
bread mold
(Neurospora crassa)
Ascomycetes NCU01611 34
  • 49.4 (n)
  • 36.81 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
Species where no ortholog for CPT2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CPT2 Gene

Gene Tree for CPT2 (if available)
Gene Tree for CPT2 (if available)

Paralogs for CPT2 Gene

(1) SIMAP similar genes for CPT2 Gene using alignment to 1 proteins: Pseudogenes for CPT2 Gene

genes like me logo Genes that share paralogs with CPT2: view

No data available for Paralogs for CPT2 Gene

Variants for CPT2 Gene

Sequence variations from dbSNP and Humsavar for CPT2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs28936674 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D), Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) 53,210,194(+) AGCCA(A/G)AAGTG reference, missense
rs74315294 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) 53,202,427(+) CATTT(C/T)GGGAC reference, missense
rs2229291 - 53,210,729(+) CTGGT(G/T)TGATA reference, missense
rs1799821 - 53,210,776(+) CTGCC(A/G)TCCAC reference, missense
rs28936673 Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D), Carnitine palmitoyltransferase 2 deficiency infantile (CPT2DI) 53,213,501(+) TTCCT(A/C)CCCAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CPT2 Gene

Variant ID Type Subtype PubMed ID
esv2422213 CNV duplication 17116639
nsv1001535 CNV gain 25217958
nsv829871 CNV loss 17160897

Variation tolerance for CPT2 Gene

Residual Variation Intolerance Score: 77.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.08; 87.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CPT2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CPT2 Gene

Disorders for CPT2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for CPT2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy due to cpt ii deficiency
  • carnitine palmitoyltransferase ii deficiency, late-onset
cpt deficiency, hepatic, type ii
  • carnitine palmitoyltransferase ii deficiency, infantile
cpt ii deficiency, lethal neonatal
  • carnitine palmitoyltransferase ii deficiency, lethal neonatal
encephalopathy, acute, infection-induced, 4
  • encephalopathy, acute, infection-induced, susceptibility to, 4
carnitine palmitoyltransferase ii deficiency
  • cpt-ii
- elite association - COSMIC cancer census association via MalaCards
Search CPT2 in MalaCards View complete list of genes associated with diseases


  • Carnitine palmitoyltransferase 2 deficiency infantile (CPT2DI) [MIM:600649]: A disorder of mitochondrial long-chain fatty acid oxidation characterized by hepatic or hepato-cardio-muscular manifestations with onset in infancy. Clinical features include hypoketotic hypoglycemia, lethargy, seizures, hepatomegaly, liver dysfunction, cardiomegaly and dilated cardiomyopathy. {ECO:0000269 PubMed:1528846, ECO:0000269 PubMed:8651281}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D) [MIM:255110]: Autosomal recessive disorder characterized by recurrent myoglobinuria, episodes of muscle pain, stiffness, and rhabdomyolysis. These symptoms are triggered by prolonged exercise, fasting or viral infection and patients are usually young adults. In addition to this classical, late-onset, muscular type, a hepatic or hepatocardiomuscular form has been reported in infants. Clinical pictures in these children or neonates include hypoketotic hypoglycemia, liver dysfunction, cardiomyopathy and sudden death. {ECO:0000269 PubMed:10090476, ECO:0000269 PubMed:11477613, ECO:0000269 PubMed:14605500, ECO:0000269 PubMed:14615409, ECO:0000269 PubMed:1528846, ECO:0000269 PubMed:15489334, ECO:0000269 PubMed:15622536, ECO:0000269 PubMed:7711730, ECO:0000269 PubMed:8358442, ECO:0000269 PubMed:8651281, ECO:0000269 PubMed:9600456, ECO:0000269 PubMed:9758712, ECO:0000269 Ref.13, ECO:0000269 Ref.17}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Carnitine palmitoyltransferase 2 deficiency lethal neonatal (CPT2D-LN) [MIM:608836]: Lethal neonatal form of CPT2D. This rarely presentation is antenatal with cerebral periventricular cysts and cystic dysplastic kidneys. The clinical variability of the disease is likely attributed to the variable residual enzymatic activity. {ECO:0000269 PubMed:11477613}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Encephalopathy, acute, infection-induced, 4 (IIAE4) [MIM:614212]: A severe neurologic complication of an infection. It manifests within days in otherwise healthy children after common viral infections, without evidence of viral infection of the brain or inflammatory cell infiltration. In affected children, high-grade fever is accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder. {ECO:0000269 PubMed:15811315, ECO:0000269 PubMed:21697855}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. CPT2 polymorphic variants do not cause classical carnitine palmitoyltransferase 2 deficiency, and patients harboring any of them are asymptomatic most of the time. However, they are prone to viral infection (high fever)-related encephalopathy (PubMed:21697855). {ECO:0000269 PubMed:21697855}.

Genatlas disease for CPT2 Gene

non ketotic hypoglycemia,liver failure,cardiomyopathy,peripheral myopathy in infant with severe outcome,and,in adult,myopathy with cramps,stiffness and myoglobinuria triggered by exercice,fasting and other metabolic stresses

Relevant External Links for CPT2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CPT2: view

Publications for CPT2 Gene

  1. Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. (PMID: 18306170) Yao D. … Kido H. (Hum. Mutat. 2008) 3 4 22 65
  2. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. (PMID: 15622536) Oerngreen M.C. … Vissing J. (Ann. Neurol. 2005) 3 4 22 65
  3. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. (PMID: 14605500) Olpin S.E. … Pollitt R.J. (J. Inherit. Metab. Dis. 2003) 3 4 22 65
  4. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (PMID: 14615409) Sigauke E. … Bennett M.J. (Lab. Invest. 2003) 3 4 22 65
  5. Antenatal presentation of carnitine palmitoyltransferase II deficiency. (PMID: 11477613) Elpeleg O.N. … Nadjari M. (Am. J. Med. Genet. 2001) 3 4 22 65

Products for CPT2 Gene

Sources for CPT2 Gene

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