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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CPT2 Gene

protein-coding   GIFtS: 69
GCID: GC01P053662

Carnitine Palmitoyltransferase 2

(Previous name: carnitine palmitoyltransferase II)
(Previous symbol: CPT1)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Carnitine Palmitoyltransferase 21 2     EC 2.3.1.213 8
Carnitine Palmitoyltransferase II1 2 3     CPTASE2
CPT11 2 3     IIAE42
CPT II2 3     Carnitine O-Palmitoyltransferase 2, Mitochondrial2

External Ids:    HGNC: 23301   Entrez Gene: 13762   Ensembl: ENSG000001571847   OMIM: 6006505   UniProtKB: P237863   

Export aliases for CPT2 gene to outside databases

Previous GC identifers: GC01P053297 GC01P052551 GC01P053020 GC01P053032 GC01P053374 GC01P053434 GC01P051777


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 carnitine palmitoyltransferase ii deficiency, and fatty acid oxidation disorders, and among its related super-pathways are Fatty Acid Beta Oxidation and Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). GO annotations related to this gene include carnitine O-palmitoyltransferase activity.

Gene Wiki entry for CPT2 (Carnitine palmitoyltransferase II) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CPT2 gene promoter:
         c-Fos   LHX3b/Lhx3b   AP-1   HTF   FosB   AREB6   POU2F1   POU2F1a   LHX3a/Lhx3a   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CPT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CPT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CPT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32

CPT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CPT2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P053662:  view genomic region     (about GC identifiers)

Start:
53,662,101 bp from pter      End:
53,679,869 bp from pter
Size:
17,769 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CPT2_HUMAN, P23786 (See protein sequence)
Recommended Name: Carnitine O-palmitoyltransferase 2, mitochondrial precursor  
Size: 658 amino acids; 73777 Da
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Secondary accessions: B2R6S0 Q5SW68 Q9BQ26

Explore the universe of human proteins at neXtProt for CPT2: NX_P23786

Explore proteomics data for CPT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P23786

  • 4/17 DME Specific Peptides for CPT2 (P23786) (see all 17)
     AQLAFQM  RWFDKSF  DRHLFAL  PWFDMYL 

    CPT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CPT2 Protein Expression
    REFSEQ proteins: NP_000089.1  
    ENSEMBL proteins: 
     ENSP00000360541  
    Reactome Protein details: P23786
    Human Recombinant Protein Products for CPT2: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CPT2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005739mitochondrion IDA--
    GO:0005743mitochondrial inner membrane TAS--

    CPT2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000542 Carn_acyl_trans

    Graphical View of Domain Structure for InterPro Entry P23786

    ProtoNet protein and cluster: P23786

    1 Blocks protein domain: IPB000542 Acyltransferase ChoActase/COT/CPT

    UniProtKB/Swiss-Prot: CPT2_HUMAN, P23786
    Similarity: Belongs to the carnitine/choline acetyltransferase family


    CPT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CPT2_HUMAN, P23786
    Catalytic activity: Palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine

         Genatlas biochemistry entry for CPT2:
    carnitine palmitoyltransferase of the inner mitochondrial membrane 2,liver isoform,malonyl CoA
    insensitive,converting palmitoylcarnitine into palmitoyl-CoA (palmitoyl-CoA shuttle system)

         Enzyme Number (IUBMB): EC 2.3.1.211 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004095carnitine O-palmitoyltransferase activity NAS1988962
    GO:0016746transferase activity, transferring acyl groups ----
         
    CPT2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CPT2:
     Decreased POU5F1-GFP protein e 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CPT2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CPT2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CPT2 
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    SwitchGear 3'UTR luciferase reporter plasmidCPT2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CPT2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    2Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.74
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    4PPAR signaling pathway
    PPAR signaling pathway
    5Import of palmitoyl-CoA into the mitochondrial matrix
    Import of palmitoyl-CoA into the mitochondrial matrix

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CPT2
        AMPK Enzyme Complex Pathway

    3 BioSystems Pathways for CPT2
        Fatty Acid Beta Oxidation
    mitochondrial L-carnitine shuttle pathway
    Mitochondrial LC-Fatty Acid Beta-Oxidation

    5/6        Reactome Pathways for CPT2 (see all 6)
        Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Import of palmitoyl-CoA into the mitochondrial matrix
    Metabolism
    PPARA Activates Gene Expression
    Fatty acid, triacylglycerol, and ketone body metabolism


    2         Kegg Pathways  (Kegg details for CPT2):
        Fatty acid degradation
    PPAR signaling pathway

    UniProtKB/Swiss-Prot: CPT2_HUMAN, P23786
    Pathway: Lipid metabolism; fatty acid beta-oxidation


    CPT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CPT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/279 Interacting proteins for CPT2 (P237862, 3 ENSP000003605414) via UniProtKB, MINT, STRING, and/or I2D (see all 279)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATP5BP065762, 3, ENSP000002620304MINT-8079030 I2D: score=1 STRING: ENSP00000262030
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    ACADVLP497482, ENSP000003253954MINT-8079030 STRING: ENSP00000325395
    ATP6V0D1P614213I2D: score=4 
    AARSP495883I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006635fatty acid beta-oxidation NAS--
    GO:0006853carnitine shuttle TAS--
    GO:0044255cellular lipid metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    CPT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CPT2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CPT2

    10/128 HMDB Compounds for CPT2 (see all 128)    About this table
    CompoundSynonyms CAS #PubMed Ids
    4,8 dimethylnonanoyl carnitine4,8-dimethylnonanoylcarnitine ----
    Capric acid1-Nonanecarboxylate (see all 25)334-48-5--
    Caproic acid1-Hexanoate (see all 26)142-62-1--
    Caprylic acid1-Heptanecarboxylate (see all 21)124-07-2--
    Coenzyme AAcetoacetyl coenzyme A sodium salt (see all 21)85-61-0--
    Dodecanoic acid1-Undecanecarboxylate (see all 28)143-07-7--
    Glycerol1,2,3-Trihydroxypropane (see all 22)56-81-5--
    L-Carnitine(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)541-15-1--
    L-PalmitoylcarnitinePalmitoyl d-carnitine (see all 16)2364-67-2--
    Palmityl-CoAPalmityl-CoA (see all 13)1763-10-6--

    2 DrugBank Compounds for CPT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Carnitine(-)-Carnitine (see all 6)541-15-1target--12684219 12662154 12445488 12408750 12464674
    Perhexiline(-)-2-(2,2-Dicyclohexylethyl)piperidine (see all 7)6621-47-2targetinhibitor8694852 16306812 11117381

    10/29 Novoseek inferred chemical compound relationships for CPT2 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine 95.2 300 16636033 (4), 1999498 (3), 19335026 (3), 8201482 (3) (see all 99)
    fatty acid 75.1 35 14605500 (2), 10331465 (1), 15642848 (1), 16307905 (1) (see all 30)
    s-adenosylmethionine 74.4 18 7654220 (2), 10217622 (1), 18306170 (1), 14615409 (1) (see all 12)
    oxfenicine 71.5 2 11788422 (1), 17149674 (1)
    acyl-coa 70.2 13 16617370 (1), 18067086 (1), 9266372 (1), 10553013 (1) (see all 6)
    pristanic acid 69.9 2 9469587 (1)
    etomoxir 65.4 4 14634285 (1), 16545538 (1), 17149674 (1)
    malonyl-coa 60.5 10 15356215 (4), 10212840 (1)
    palmitate 51.5 8 11788422 (5), 18706397 (1), 17960559 (1)
    lipid 46.8 18 10331465 (1), 10398218 (1), 17828388 (1), 7711730 (1) (see all 14)

    Search CenterWatch for drugs/clinical trials and news about CPT2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CPT2 gene: 
    NM_000098.2  

    Unigene Cluster for CPT2:

    Carnitine palmitoyltransferase 2
    Hs.713535  [show with all ESTs]
    Unigene Representative Sequence: NM_000098
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371486(uc001cvb.4) ENST00000468572
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK223052.1 AK312687.1 BC002445.2 BC005172.2 M58581.1 U09648.1 

    15 DOTS entries:

    DT.91759958  DT.95125466  DT.91759962  DT.100784735  DT.317688  DT.100743554  DT.100706716  DT.100784733 
    DT.101969476  DT.121327699  DT.99947606  DT.101956172  DT.303703  DT.317276  DT.91759963 

    24/138 AceView cDNA sequences (see all 138):

    BF939459 BU552787 BU931477 BM829569 BI759433 BQ218031 AI494182 BU167554 
    BM457066 AA758131 BG830129 CR598552 AI872000 CB960675 AA179663 M58581 
    BQ890386 BQ887542 BU553443 BM765154 D19885 AU121876 BQ223733 AU127755 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CPT2    About this scheme

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


    ECgene alternative splicing isoforms for CPT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CPT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCTATAAT
    CPT2 Expression
    About this image


    See CPT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CPT2

    SOURCE GeneReport for Unigene cluster: Hs.713535
        SABiosciences Expression via Pathway-Focused PCR Arrays including CPT2 (see all 7): 
              Fatty Acid Metabolism in human mouse rat
              Mitochondria in human mouse rat
              Cancer PathwayFinder in human mouse rat
              Signal Transduction PathwayFinder in human mouse rat
              Fatty Liver in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CPT2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for CPT2 gene from 8/21 species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cpt21 , 5 carnitine palmitoyltransferase 21, 5 86.32(n)1
    87.23(a)1
      4 (50.18 cM)5
    128961  NM_009949.21  NP_034079.21 
     1079039815 
    chicken
    (Gallus gallus)
    Aves CPT21 carnitine palmitoyltransferase 2 73.31(n)
    76.58(a)
      424649  XM_001234342.1  XP_001234343.1 
    lizard
    (Anolis carolinensis)
    Reptilia CPT26
    --
    Uncharacterized protein
    72(a)
    54(a)
    1 ↔ 1
    possible ortholog
    4(115022801-115033281)
    2(25947450-25958048)
    African clawed frog
    (Xenopus laevis)
    Amphibia cg2107-prov2 carnitine palmitoyltransferase II 73.64(n)    BC045036.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ616409.12   -- 74.95(n)   334779  BQ616409.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG21071 , 3 carnitine O-palmitoyltransferase3
    CG21071
    46(a)3
    53.43(n)1
    47.27(a)1
      63A23
    383551  NM_139499.21  NP_647756.11 
    worm
    (Caenorhabditis elegans)
    Secernentea cpt-21 Protein CPT-2 50.66(n)
    46.38(a)
      178025  NM_001047512.1  NP_001040977.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes YAT1(YAR035W)4
    YAT11
    Outer mitochondrial carnitine acetyltransferase, minor more4
    Yat1p1
    45.35(n)1
    35.7(a)1
      1(190193-192256)4
    8512851, 4  NP_009420.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CPT2 gene
    1 SIMAP similar gene for CPT2 using alignment to 1 protein entry:     CPT2_HUMAN:
    CRAT

    CPT2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for CPT2
    PGOHUM00000244726


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/449 SNPs in CPT2 are shown (see all 449)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0379764
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0379762 D G mis40--------
    VAR_0079684
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0079682 F L mis40--------
    VAR_0205404
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0205402 R Q mis40--------
    VAR_0079674
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0079672 P L mis40--------
    VAR_0013994
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0013992 R C mis40--------
    VAR_0205454
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0205452 P S mis40--------
    VAR_0205434
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0205432 Q R mis40--------
    VAR_0079664
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0079662 M T mis40--------
    VAR_0079694
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0079692 Y F mis40--------
    VAR_0205424
    Carnitine palmitoyltransferase 2 deficiency late-onset (CPT2D)4--see VAR_0205422 R Q mis40--------

    HapMap Linkage Disequilibrium report for CPT2 (53662101 - 53679869 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for CPT2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2422213CNV Duplication17116639
    nsv829871CNV Loss17160897


    Human Gene Mutation Database (HGMD): CPT2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CPT2
    DNA2.0 Custom Variant and Variant Library Synthesis for CPT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600650   
    OMIM disorders: 255110  600649  608836  
    UniProtKB/Swiss-Prot: CPT2_HUMAN, P23786
  • 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. 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. 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. 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. 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)

  • 20/38 diseases for CPT2 (see all 38):    About MalaCards
    carnitine palmitoyltransferase ii deficiency    fatty acid oxidation disorders    cpt deficiency, hepatic, type ii    myopathy due to cpt ii deficiency
    cpt ii deficiency, lethal neonatal    dandy-walker syndrome    carnitine-acylcarnitine translocase deficiency    myoglobinuria recurrent
    encephalopathy, acute necrotizing 1    malignant hyperthermia    malignant hyperthermia susceptibility    glycogen storage disease v
    abetalipoproteinemia    renal dysplasia    brain edema    glycogen storage disease
    protein s deficiency    respiratory failure    morbid obesity    hypoglycemia

    3 diseases from the University of Copenhagen DISEASES database for CPT2:
    Systemic primary carnitine deficiency disease     Dandy-Walker syndrome     Glycogen storage disease V

    CPT2 for disorders           About GeneDecksing

    10/23 Novoseek inferred disease relationships for CPT2 gene (see all 23)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine palmitoyltransferase ii deficiency 99.1 63 16636033 (4), 1999498 (2), 8815169 (2), 18987586 (2) (see all 53)
    myoglobinuria, recurrent 86.6 5 15776096 (1), 8201482 (1), 8815169 (1), 16225172 (1)
    rhabdomyolysis 74.2 20 18471680 (4), 15754283 (3), 7593992 (1), 16636033 (1) (see all 12)
    enzyme deficiency 66.6 4 10217622 (1), 10451074 (1), 8795843 (1)
    mcardles disease 65.2 2 16540825 (1), 16671104 (1)
    glycogen storage disease type iv 63.7 1 10331465 (1)
    myopathy 59 9 10398218 (1), 18430572 (1), 10451074 (1), 10873395 (1) (see all 6)
    hypoglycemia 53.9 5 18471680 (3), 1999498 (1), 12410208 (1)
    abetalipoproteinemia 50.9 1 16297647 (1)
    metabolic disorder 45.5 2 17638024 (1), 17445541 (1)

    Genatlas disease: CPT2
    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

    GeneTests: CPT2
    GeneReviews: CPT2
    Genetic Association Database (GAD): CPT2
    Human Genome Epidemiology (HuGE) Navigator: CPT2 (12 documents)

    Export disorders for CPT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CPT2 gene, integrated from 9 sources (see all 218):
    (articles sorted by number of sources associating them with CPT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. (PubMed id 9600456)1, 2, 9 Wataya K.... Narisawa K. (1998)
    2. Novel mutations associated with carnitine palmitoyltransferase II deficiency. (PubMed id 10090476)1, 2, 9 Taggart R.T.... Vladutiu G.D. (1999)
    3. Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. (PubMed id 14605500)1, 2, 9 Olpin S.E.... Pollitt R.J. (2003)
    4. Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. (PubMed id 7711730)1, 2, 9 Verderio E.... Taroni F. (1995)
    5. Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. (PubMed id 15622536)1, 2, 9 Oerngreen M.C.... Vissing J. (2005)
    6. Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. (PubMed id 9758712)1, 2, 9 Yang B.-Z.... Roe C. (1998)
    7. Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. (PubMed id 14615409)1, 2, 9 Sigauke E.... Bennett M.J. (2003)
    8. Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy. (PubMed id 18306170)1, 2, 9 Yao D....Kido H. (2008)
    9. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. (PubMed id 1988962)1, 2, 9 Finocchiaro G.... Didonato S. (1991)
    10. Antenatal presentation of carnitine palmitoyltransferase II deficiency. (PubMed id 11477613)1, 2, 9 Elpeleg O.N.... Nadjari M. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1376 HGNC: 2330 AceView: CPT2 Ensembl:ENSG00000157184 euGenes: HUgn1376
    ECgene: CPT2 Kegg: 1376 H-InvDB: CPT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CPT2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CPT2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CPT2 gene:
    Search GeneIP for patents involving CPT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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