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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 2.3.1.21 4 63
  • CPT II 3 4
  • CPT1 3 4
  • 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 Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). 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

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

ENSRs around CPT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CPT2 Gene

Chromosome:
1
Start:
53,196,429 bp from pter
End:
53,214,197 bp from pter
Size:
17,769 bases
Orientation:
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:
    P23786-CPT2_HUMAN
    Recommended name:
    Carnitine O-palmitoyltransferase 2, mitochondrial
    Protein Accession:
    P23786
    Secondary Accessions:
    • B2R6S0
    • Q5SW68
    • Q9BQ26

    Protein attributes for CPT2 Gene

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

neXtProt entry for CPT2 Gene

Proteomics data for CPT2 Gene at MOPED

Post-translational modifications for CPT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CPT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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

P23786

UniProtKB/Swiss-Prot:

CPT2_HUMAN :
  • Belongs to the carnitine/choline acetyltransferase family.
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:0016746 transferase activity, transferring acyl groups IEA --
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

miRNA for CPT2 Gene

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

COMPARTMENTS
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 --
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: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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Perhexiline Approved Pharma inhibitor, Target 7
L-Carnitine Approved Pharma Target 0
Glycerol Experimental Pharma 191
Caprylic acid Experimental Pharma 0
decanoic acid Experimental Pharma Full agonist, Agonist 118

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

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
142-62-1
Dodecanoic acid
  • 1-Undecanecarboxylate
  • 1-Undecanecarboxylic acid
  • ABL
  • Aliphat No. 4
  • Dodecanoate
143-07-7
hexadecanoyl-CoA
L-Palmitoylcarnitine
  • (+)-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
2364-67-2
genes like me logo Genes that share compounds with CPT2: view

Transcripts for CPT2 Gene

mRNA/cDNA for CPT2 Gene

Unigene Clusters for CPT2 Gene

Carnitine palmitoyltransferase 2:
Representative Sequences:

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5
SP1: -
SP2:
SP3: - -

Relevant External Links for CPT2 Gene

GeneLoc Exon Structure for
CPT2
ECgene alternative splicing isoforms for
CPT2

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, MOPED, and MaxQB for CPT2 Gene



SOURCE GeneReport for Unigene cluster for CPT2 Gene Hs.713535

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

Protein tissue co-expression partners for CPT2 Gene

- Elite partner

Primer Products

In Situ Assay 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
chimpanzee
(Pan troglodytes)
Mammalia CPT2 36
  • 99 (a)
OneToOne
CPT2 35
  • 99.44 (n)
  • 98.94 (a)
cow
(Bos Taurus)
Mammalia CPT2 36
  • 87 (a)
OneToOne
CPT2 35
  • 88.8 (n)
  • 86.78 (a)
dog
(Canis familiaris)
Mammalia CPT2 35
  • 88.05 (n)
  • 87.58 (a)
CPT2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cpt2 16
Cpt2 36
  • 87 (a)
OneToOne
Cpt2 35
  • 86.32 (n)
  • 87.23 (a)
oppossum
(Monodelphis domestica)
Mammalia CPT2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CPT2 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cpt2 35
  • 85.01 (n)
  • 83.59 (a)
chicken
(Gallus gallus)
Aves CPT2 36
  • 71 (a)
OneToOne
CPT2 35
  • 72.92 (n)
  • 75.81 (a)
lizard
(Anolis carolinensis)
Reptilia CPT2 36
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia cg2107-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia cpt2 35
  • 69.34 (n)
  • 73.39 (a)
MGC76152 35
zebrafish
(Danio rerio)
Actinopterygii -- 35
cpt2 35
  • 67.19 (n)
  • 70.98 (a)
cpt2 36
  • 68 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008907 35
  • 54.71 (n)
  • 52.02 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG2107 37
  • 46 (a)
CG2107 36
  • 44 (a)
OneToOne
CG2107 35
  • 53.43 (n)
  • 47.27 (a)
worm
(Caenorhabditis elegans)
Secernentea cpt-2 36
  • 45 (a)
OneToOne
cpt-2 35
  • 50.55 (n)
  • 46.38 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AER224W 35
  • 46.47 (n)
  • 35.44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YAT1 36
  • 28 (a)
OneToOne
YAT1 38
YAT1 35
  • 45.6 (n)
  • 35.93 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C04169g 35
  • 44.15 (n)
  • 35.64 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01611 35
  • 49.4 (n)
  • 36.81 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
OneToOne
Species with no ortholog for CPT2:
  • 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

ENSEMBL:
Gene Tree for CPT2 (if available)
TreeFam:
Gene Tree for CPT2 (if available)

Paralogs for CPT2 Gene

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

Pseudogenes.org 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
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

HapMap Linkage Disequilibrium report
CPT2
Human Gene Mutation Database (HGMD)
CPT2

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

Disorders for CPT2 Gene

MalaCards: The human disease database

(26) 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
cpt deficiency, hepatic, type ii
  • carnitine palmitoyltransferase 2 deficiency infantile
cpt ii deficiency, lethal neonatal
  • carnitine palmitoyltransferase 2 deficiency lethal neonatal
encephalopathy, acute, infection-induced, 4
  • encephalopathy, acute, infection-induced, 4, susceptibility to
carnitine palmitoyl transferase ii deficiency, myopathic form
  • cpt2, adult-onset form
- elite association - COSMIC cancer census association via MalaCards
Search CPT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CPT2_HUMAN
  • 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 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 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)
CPT2
Human Genome Epidemiology (HuGE) Navigator
CPT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CPT2
genes like me logo Genes that share disorders with CPT2: view

Publications for CPT2 Gene

  1. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. (PMID: 9600456) Wataya K. … Narisawa K. (Hum. Mutat. 1998) 3 4 23 67
  2. Control of human carnitine palmitoyltransferase II gene transcription by peroxisome proliferator-activated receptor through a partially conserved peroxisome proliferator-responsive element. (PMID: 12408750) Barrero M.J. … Haro D. (Biochem. J. 2003) 3 25 26
  3. Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation. (PMID: 19762733) Hogan K.J. … Vladutiu G.D. (Anesth. Analg. 2009) 3 23
  4. Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency. (PMID: 17936304) Corti S. … Comi G.P. (J. Neurol. Sci. 2008) 3 23
  5. 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 23

Products for CPT2 Gene

Sources for CPT2 Gene

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