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    CPT2 carnitine palmitoyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 1376, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CPT2provided by HGNC
    Official Full Name
    carnitine palmitoyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:2330
    See related
    Ensembl:ENSG00000157184 MIM:600650; AllianceGenome:HGNC:2330
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CPT1; IIAE4; CPTASE
    Summary
    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]
    Expression
    Ubiquitous expression in liver (RPKM 19.1), colon (RPKM 17.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CPT2 in Genome Data Viewer
    Location:
    1p32.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (53196824..53214197)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (53078266..53095633)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (53662496..53679869)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 1 member 7 Neighboring gene uncharacterized LOC105379783 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:53580852-53581834 Neighboring gene VISTA enhancer hs2585 Neighboring gene uncharacterized LOC105378724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1041 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 902 Neighboring gene carnitine palmitoyltransferase 2 pseudogene 1 Neighboring gene MPRA-validated peak232 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:53685707-53686208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 904 Neighboring gene CXXC motif containing zinc binding protein Neighboring gene CZIB divergent transcript Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:53703843-53704484 Neighboring gene mago homolog, exon junction complex subunit

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Carnitine Palmitoyltransferase II Deficiency. Adam MP, et al. , 1993. PMID 20301431
    2. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency. Isackson PJ, et al. Mol Genet Metab, 2006 Dec. PMID 16996287
    3. Overexpression of carnitine palmitoyltransferase I in skeletal muscle in vivo increases fatty acid oxidation and reduces triacylglycerol esterification. Bruce CR, et al. Am J Physiol Endocrinol Metab, 2007 Apr. PMID 17179390
    4. Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency. Musumeci O, et al. Neuromuscul Disord, 2007 Dec. PMID 17651973
    5. A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation. Aoki J, et al. Neurology, 2007 Aug 21. PMID 17709715

    See all (125) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription.
      Title: GBA3 promotes fatty acid oxidation and alleviates non-alcoholic fatty liver by increasing CPT2 transcription.
    2. Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.
      Title: Myopathy due to carnitine palmitoyltransferase II deficiency: updating genetic aspects of the first publication in Brazil.
    3. SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer.
      Title: SGMS1-AS1/MicroRNA-106a-5p/CPT2 Axis as a Novel Target for Regulating Lactate Metabolism in Colon Cancer.
    4. Role of PPAR-related genes in chronic heart failure: evidence from large populations.
      Title: Role of PPAR-related genes in chronic heart failure: evidence from large populations.
    5. Identification of CPT2 as a prognostic biomarker by integrating the metabolism-associated gene signature in colorectal cancer.
      Title: Identification of CPT2 as a prognostic biomarker by integrating the metabolism-associated gene signature in colorectal cancer.
    6. Downregulation of CPT2 promotes proliferation and inhibits apoptosis through p53 pathway in colorectal cancer.
      Title: Downregulation of CPT2 promotes proliferation and inhibits apoptosis through p53 pathway in colorectal cancer.
    7. Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
      Title: Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.
    8. Kinetics of Serum Carnitine Fractions in Patients with Chronic Kidney Disease Not on Dialysis.
      Title: Kinetics of Serum Carnitine Fractions in Patients with Chronic Kidney Disease Not on Dialysis.
    9. HRD1 inhibits fatty acid oxidation and tumorigenesis by ubiquitinating CPT2 in triple-negative breast cancer.
      Title: HRD1 inhibits fatty acid oxidation and tumorigenesis by ubiquitinating CPT2 in triple-negative breast cancer.
    10. Successful orthotopic heart transplantation in CPTII deficiency.
      Title: Successful orthotopic heart transplantation in CPTII deficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (62)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Carnitine palmitoyl transferase II deficiency, myopathic form
    MedGen: C1833508 OMIM: 255110 GeneReviews: Carnitine Palmitoyltransferase II Deficiency
    		Compare labs
    Carnitine palmitoyl transferase II deficiency, neonatal form
    MedGen: C1833518 OMIM: 608836 GeneReviews: Carnitine Palmitoyltransferase II Deficiency
    		Compare labs
    Carnitine palmitoyl transferase II deficiency, severe infantile form
    MedGen: C1833511 OMIM: 600649 GeneReviews: Carnitine Palmitoyltransferase II Deficiency
    		Compare labs
    Carnitine palmitoyltransferase II deficiency
    MedGen: C0342790 GeneReviews: Carnitine Palmitoyltransferase II Deficiency
    		Compare labs
    Encephalopathy, acute, infection-induced, susceptibility to, 4
    MedGen: C3280160 OMIM: 614212 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env 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 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables carnitine O-octanoyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables carnitine O-palmitoyltransferase activity EXP
    Inferred from Experiment
    more info
    		 PubMed 
    enables carnitine O-palmitoyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables carnitine O-palmitoyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables carnitine O-palmitoyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in carnitine metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in carnitine shuttle TAS
    Traceable Author Statement
    more info
    		  
    involved_in fatty acid beta-oxidation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in fatty acid beta-oxidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in long-chain fatty acid metabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    carnitine O-palmitoyltransferase 2, mitochondrial
    Names
    CPT II
    carnitine palmitoyltransferase II
    testicular secretory protein Li 13
    NP_000089.1
    NP_001317518.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008035.1 RefSeqGene

      Range
      5396..22769
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000098.3 → NP_000089.1  carnitine O-palmitoyltransferase 2, mitochondrial isoform 1 precursor

      See identical proteins and their annotated locations for NP_000089.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BU629852, U09648
      Consensus CDS
      CCDS575.1
      UniProtKB/Swiss-Prot
      B2R6S0, P23786, Q5SW68, Q9BQ26
      UniProtKB/TrEMBL
      A0A140VK13, A0A1B0GVF3
      Related
      ENSP00000360541.3, ENST00000371486.4
      Conserved Domains (1) summary
      pfam00755
      Location:49 → 648
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    2. NM_001330589.2 → NP_001317518.1  carnitine O-palmitoyltransferase 2, mitochondrial isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AL606760
      Consensus CDS
      CCDS81326.1
      UniProtKB/TrEMBL
      A0A1B0GTB8, A0A1B0GWC0
      Related
      ENSP00000489631.1, ENST00000636867.1
      Conserved Domains (1) summary
      pfam00755
      Location:49 → 625
      Carn_acyltransf; Choline/Carnitine o-acyltransferase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      53196824..53214197
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      53078266..53095633
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P23786.2 GenPept UniProtKB/Swiss-Prot:P23786

    Gene LinkOut

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