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CPT2 carnitine palmitoyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 1376, updated on 2-Nov-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
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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

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

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

Genotypes

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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