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Gene

CPT2

carnitine palmitoyltransferase 2

Summary

Cytogenetic location
1p32.3
Coordinates
Chromosome 1: 53,196,824–53,214,197 (GRCh38)
Exons
5 exons across 17.4 kb
Protein
658 amino acids
Inheritance
Autosomal recessive
Also known as
CPTASE
Previous symbols
CPT1
MANE Select transcript
ENST00000371486.4NM_000098.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Fatty Acid Oxidation & Carnitine Cycle Disorders

    • Carnitine Palmitoyltransferase II DeficiencyAutosomal recessive

      Caused by variants in CPT2; the common adult form causes episodes of muscle pain and muscle breakdown (rhabdomyolysis) after prolonged exercise, fasting, cold or illness, while rare infantile forms are severe.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing helps avoid triggers, guides safe exercise and fasting habits, and supports fast treatment of muscle breakdown to protect the kidneys.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CPT2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where CPT2 sits. CPT2 and 12 genes near it on chromosome 1, from 52,705,511 to 53,705,510.Chromosome 11p32.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4452.8 Mb53 Mb53.2 Mb53.4 Mb53.6 MbZYG11B: 52,726,390–52,827,336, forward strandZYG11BZYG11A: 52,842,511–52,894,998, forward strandZYG11AECHDC2: 52,895,910–52,927,212, reverse strandECHDC2SCP2: 52,927,255–53,051,708, forward strandSCP2PODN: 53,061,293–53,093,681, forward strandPODNSLC1A7: 53,087,179–53,142,638, reverse strandSLC1A7CPT2: 53,196,824–53,214,197, forward strandCPT2CZIB: 53,214,099–53,220,657, reverse strandCZIBMAGOH: 53,226,638–53,238,626, reverse strandMAGOHLRP8: 53,242,364–53,328,469, reverse strandLRP8: 53,413,149–53,440,018, reverse strandDMRTB1: 53,459,391–53,467,488, forward strandDMRTB1GLIS1: 53,506,232–53,739,225, reverse strandGLIS1Diagram of CPT2: 5 exons on the forward strand of chromosome 1Exon 1: 19 known disease-causing sitesExon 2: 11 known disease-causing sitesExon 3: 10 known disease-causing sitesExon 4: 131 known disease-causing sitesExon 5: 32 known disease-causing sitesExon 1: 53,196,824–53,197,095, 272 basesExon 2: 53,200,719–53,200,799, 81 basesExon 3: 53,202,323–53,202,429, 107 basesExon 4: 53,210,015–53,211,319, 1,305 basesExon 5: 53,213,264–53,214,197, 934 bases123455′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.7 kb of the gene's 17.4 kb; 1,977 of those bases code for the protein.

How a genome test reads CPT2

209

positions in CPT2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 17.4 kb of CPT2, introns included, not only the 2.7 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CPT2 gene: carnitine palmitoyltransferase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/cpt2

Vancouver

Dante Labs. CPT2 gene: carnitine palmitoyltransferase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cpt2

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