Property Summary

NCBI Gene PubMed Count 74
PubMed Score 172.95
PubTator Score 353.35

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (7)

Disease log2 FC p
psoriasis 1.800 1.9e-04
pancreatic ductal adenocarcinoma liver m... -1.351 7.5e-03
intraductal papillary-mucinous neoplasm ... 1.200 1.4e-02
colon cancer -1.100 4.0e-03
subependymal giant cell astrocytoma 1.843 2.6e-02
ulcerative colitis -1.300 8.6e-06
ovarian cancer 2.000 5.3e-06

Protein-protein Interaction (1)

Gene RIF (50)

PMID Text
26874509 polymorphism may be associated with severity of EV71 infection
26041663 CPT2 is active inside the mitochondrial matrix to recover acyl-CoA from a process generally known as the carnitine shuttle. This protein is expressed in a constitutive way in all cells and tissues.
25781464 CPT II deficiency induces an energy crisis of the fatty acid metabolic pathway.
25361188 The rs2229291 and rs1799821 variants in CPT II gene might be one of the predisposing factors of acute encephalitis.
25335471 L-carnitine deficiency participates in the pathogenesis of endometrial cancer by means of a mechanism which is unrelated with obesity and increased amount of fat in human body.
24398345 The data indicate that within the muscle form of CPT II deficiency, the various genotypes have only marginal influence on the clinical and biochemical phenotype.
23969168 The F352C CPT2 variant might be a genetic risk factor for sudden unexpected death in infancy
23566841 The homozygous genotype (AA) of CPT2 variant V368I had significantly less blood carnitine in acute myocardial infarction patients.
23475205 The present study shows that screening for second mutations in patients that are heterozygote for the common p.S113L is justified although rare symptomatic heterozygotes.
23322164 CPT2 and CACT are crucial for mitochondrial acylcarnitine formation and export to the extracellular fluids in mitochondrial fatty acid beta-oxidation disorders.
21913903 Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency
21697855 Data demonstrated the thermolabile CPT-II variants in demonstrated the thermolabile CPT-II variants in patients with viral infection-associated encephalopathy in Chinese population.
21641254 A homozygous mutation (c.534_558del25bpinsT) of CPT2 in a case of neonatal CPT II deficiency associated with Dandy-Walker syndrome and sudden death at 13 days of life.
21277129 the thermolabile F352C CPT II variant, found only in Japanese, might be one of the predisposing factors to trigger the pathomechanism of acute encephalopathy in the Japanese population
20952238 Analyzed potential rhabdomyolysis-susceptibility genes (RYR 1, CPT II, VLCAD and CYP 2D6) from autopsy samples of methamphetamine abusers; no obvious relationship between the genetic mutations observed in this study and rhabdomyolysis was seen.
20934285 Results revealed that having at least one carnitine palmitoyl transferase II CIM allele is a risk factor for the onset of acute encephalopathy, regardless of its antecedent infections.
20934285 Observational study of gene-disease association. (HuGE Navigator)
20877624 Observational study of gene-disease association. (HuGE Navigator)
20810031 We found a high frequency of the common p.Ser113Leu mutation, the recurrence of the rare p.Arg631Cys mutation , and identified four novel mutations, in patients with muscle type CPT II deficiency.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20602615 Observational study of gene-disease association. (HuGE Navigator)
20370797 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19762733 Case Report: Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation.
19362304 Patient with adult-onset carnitine palmitoyl transferase II deficiency was able to have a successful pregnancy outcomes after fertilization in vitro.
18996102 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18645163 The triheptanoin diet seems to be an effective therapy for adult-onset carnitine palmitoyltransferase II deficiency.
18550408 Two mutations in the CPT2 gene were identified in lethal neonatal or severe infantile diseases.
18363739 study identified p.F383Y mutations in 6 of 7 Japanese patients with CPT II deficiency & 2 novel variants of the coding gene: p.Y408fsX420 & p.V605L; data suggest that the p.F383Y mutation is significant in Japanese patients with CPT II deficiency
18306170 unstable CPT II variants with decreased enzymatic activity may bring mitochondrial fuel utilization below the phenotypic threshold during high fever, and thus may play an important role in development of brain edema of influenza-associated encephalopathy
18024217 It was not possible to repair the CPT-2 gene under a variety of conditions, this approach is of little value until cellular DNA repair mechanisms are much better understood.
17936304 our data expand the spectrum of CPT II mutations and help to evaluate possible correlations between genotypes and phenotypes
17709715 We report a Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation causing myalgia and rhabdomyolysis.
17651973 Our data evidenced that R631C mutation is not exclusively detected in the infantile form but it may be present in a wider spectrum of CPT2 phenotypes. These findings suggest that other modulators may influence clinical severity of CPT2 deficiency.
17179390 acute overexpression of CPT I in muscle leads to a repartitioning of FAs away from esterification and toward oxidation and highlight the importance of CPT I in regulating muscle fatty acid metabolism.
16996287 Within the CPT2 gene there were identified 16 novel deasese-causing mutations.
16671104 Observational study of gene-disease association. (HuGE Navigator)
16670153 In conclusion, the findings from this study indicate that exercise training alters the localization of FAT/CD36 and increases its association with CPT I, which may help augment fat oxidation.
16168441 A patient had an episode of acute renal failure with myoglobinuria, myalgias, and weakness. Carnitine palmitoyl-transferase II (CPT II) deficiency was documented both biochemically and genetically.
15754283 A novel variant of CPT II was found in a patient with rhabdomyolysis & acute renal failure: a deletion of cytosine & thymine at codon 408, resulting in a stop signal at 420, & an Arg631Cys mutation. The frame shift at 408 has never been described before.
15647998 Observational study of gene-disease association. (HuGE Navigator)
15642848 The phenotype of muscle CPT II deficiency might be influenced by the underlying mutation,analysis of S113L ,P50H and Q413fs-F448L mutations
15622536 These results indicate that mutation of CPT II patient not to increase fatty acid oxidation during exercise. And also suggest that single CPT2 gene mutations may exert a dominant-negative effect on the tetrameric CPT II protein.
12971426 Very high activity of CPT2 and VCLAD, involved in the metabolism of long-chain fatty acids. Fatty acid oxidation may play role in energy generation in placenta, and deficiency in may result in placental dysfunction and gestational complications.
12707442 3 described mutations (S113L, P50H, & F448L) & two novel mutations (M214T & Y479F)OF cpt2 were modeled. A structure could be identified anchoring the protein in the membrane. Only Y479F is located within this region.
12408750 5'-flanking region of this gene is transcriptionally active and binds PPARalpha , we characterized the peroxisome proliferator-responsive element in the proximal promoter of the CPT II gene, which appears to be a novel PPRE.
11994355 genetic CPT II deficiency is characterized by insulin resistance, which is not explained by increased intramyomellular lipids. Homozygote.
11855939 New allele (515del14)leads to a frameshift that results in a stop codon 15 codons upstream.
11095714 HIV-1 envelope glycoprotein (gp160) contains two palmitoylated cysteine residues C764 and C837; removal of both palmitoylation sites results in the formation of virus with low levels of gp160 incorporation, as well as a decrease in viral infectivity
11001805 Human CPT1A, CPT1B, CPT2, CROT and CRAT are known to encode active carnitine acyltransferases. Earlier pfam annotations refer to the non-existing compound CARNITATE. In 2000 this has been changed to CARNITINE.

AA Sequence

MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKP      1 - 70
LLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPD     71 - 140
PKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAY    141 - 210
PLDMSQYFRLFNSTRLPKPSRDELFTDDKARHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDS    211 - 280
SPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNR    281 - 350
WFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELT    351 - 420
DALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYGQTVATYESCS    421 - 490
TAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALR    491 - 560
HLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPG    561 - 630
RNAREFLQCVEKALEDMFDALEGKSIKS                                              631 - 658
//

Text Mined References (80)

PMID Year Title
26874509 2016 Carnitine palmitoyl transferase 2 polymorphism may be associated with enterovirus 71 severe infection in a Chinese population.
26041663 2015 The Carnitine Palmitoyl Transferase (CPT) System and Possible Relevance for Neuropsychiatric and Neurological Conditions.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25781464 2015 Abbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblasts.
25361188 2014 Association of CPT II gene with risk of acute encephalitis in Chinese children.
25335471 2015 L-Carnitine: a new insight into the pathogenesis of endometrial cancer.
24816252 2014 An atlas of genetic influences on human blood metabolites.
24398345 2014 Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23969168 2014 Carnitine palmitoyltransferase 2 gene polymorphism is a genetic risk factor for sudden unexpected death in infancy.
23566841 2013 Single nucleotide polymorphism in CPT1B and CPT2 genes and its association with blood carnitine levels in acute myocardial infarction patients.
23475205 2013 Expanding mutation spectrum in CPT II gene: identification of four novel mutations.
23322164 2013 Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines.
21913903 2012 Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT-II deficiency.
21697855 2011 Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
21641254 2011 Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.
21277129 2012 Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children.
21269460 2011 Initial characterization of the human central proteome.
20952238 2011 Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers.
20934285 2011 Carnitine palmitoyl transferase II polymorphism is associated with multiple syndromes of acute encephalopathy with various infectious diseases.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20810031 2011 Genotype-phenotype correlations in a large series of patients with muscle type CPT II deficiency.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20602615 2010 Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol?
20370797 2010 High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19762733 2009 Malignant hyperthermia-like syndrome and carnitine palmitoyltransferase II deficiency with heterozygous R503C mutation.
19362304 2009 Mitochondrial fatty acid transport enzyme deficiency--implications for in vitro fertilization.
18996102 2009 Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
18645163 2008 Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy.
18550408 2008 CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
18363739 2008 Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
18306170 2008 Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18024217 2008 Failure to repair the c.338C>T mutation in carnitine palmitoyl transferase 2 deficient skin fibroblasts using chimeraplasty.
17936304 2008 Clinical features and new molecular findings in Carnitine Palmitoyltransferase II (CPT II) deficiency.
17709715 2007 A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.
17651973 2007 Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
17488105 2007 Detection and validation of non-synonymous coding SNPs from orthogonal analysis of shotgun proteomics data.
17179390 2007 Overexpression of carnitine palmitoyltransferase I in skeletal muscle in vivo increases fatty acid oxidation and reduces triacylglycerol esterification.
16996287 2006 Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16671104 2006 Genetic risk factors associated with lipid-lowering drug-induced myopathies.
16670153 2006 Coimmunoprecipitation of FAT/CD36 and CPT I in skeletal muscle increases proportionally with fat oxidation after endurance exercise training.
16168441 2005 A case of CPT deficiency, homoplasmic mtDNA mutation and ragged red fibers at muscle biopsy.
16054041 2005 AMP-activated protein kinase: ancient energy gauge provides clues to modern understanding of metabolism.
15811315 2005 Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy.
15754283 2005 Carnitine palmitoyltransferase II deficiency due to a novel gene variant in a patient with rhabdomyolysis and ARF.
15647998 2005 Haplotype analysis of carnitine transporters and left ventricular mass in human essential hypertension.
15642848 2005 Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.
15622536 2005 Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14615409 2003 Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review.
14605500 2003 Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
12971426 2003 High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease.
12707442 2003 Carnitine palmitoyltransferase II deficiency: molecular and biochemical analysis of 32 patients.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12410208 2002 Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
12408750 2003 Control of human carnitine palmitoyltransferase II gene transcription by peroxisome proliferator-activated receptor through a partially conserved peroxisome proliferator-responsive element.
11477613 2001 Antenatal presentation of carnitine palmitoyltransferase II deficiency.
11257506 2001 Molecular enzymology of carnitine transfer and transport.
11001805 Genomics of the human carnitine acyltransferase genes.
10607472 1999 Carnitine palmitoyltransferase deficiencies.
10090476 1999 Novel mutations associated with carnitine palmitoyltransferase II deficiency.
9758712 1998 Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
9600456 1998 Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
8651281 1996 Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression.
8499929 1993 Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene.
8358442 1993 Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.
8086471 1994 Identification of 5' regulatory regions of the human carnitine palmitoyltransferase II gene.
7896283 1994 Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.
7892212 1995 Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.
7711730 1995 Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.
2174799 1990 Purification, characterization and partial amino acid sequences of carnitine palmitoyl-transferase from human liver.
1988962 1991 cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.
1961767 1991 cDNA cloning, sequence analysis, and chromosomal localization of human carnitine palmitoyltransferase.
1528846 1992 Molecular characterization of inherited carnitine palmitoyltransferase II deficiency.