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Gene

CPE

carboxypeptidase E

Summary

Cytogenetic location
4q32.3
Coordinates
Chromosome 4: 165,379,008–165,498,547 (GRCh38)
Exons
9 exons across 119.5 kb
Protein
476 amino acids
MANE Select transcript
ENST00000402744.9NM_001873.4
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

  • Hypogonadotropic Hypogonadism

    • Abnormal ovarian or testicular function due to insufficient hormonal stimulation from the hypothalamic-pituitary axis.

      • 1 GenCC submitter rates it definitive or strong

How CPE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where CPE sits. CPE and 8 genes near it on chromosome 4, from 164,938,778 to 165,938,777.Chromosome 44q32.3p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2165 Mb165.2 Mb165.4 Mb165.6 Mb165.8 MbTRIM61: 164,954,446–164,977,681, reverse strandTRIM61TRIM60: 165,016,458–165,041,749, forward strandTRIM60TRIM75: 165,053,866–165,060,554, forward strandTRIM75TMEM192: 165,070,608–165,208,549, reverse strandTMEM192KLHL2: 165,207,470–165,323,157, forward strandKLHL2GK3: 165,277,807–165,279,704, reverse strandGK3MSMO1: 165,327,660–165,343,318, forward strandMSMO1CPE: 165,379,008–165,498,547, forward strandCPETLL1: 165,873,058–166,105,178, forward strandTLL1Diagram of CPE: 9 exons on the forward strand of chromosome 4Exon 2: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 1: 165,379,008–165,379,528, 521 basesExon 2: 165,464,390–165,464,586, 197 basesExon 3: 165,467,688–165,467,855, 168 basesExon 4: 165,482,242–165,482,359, 118 basesExon 5: 165,484,422–165,484,604, 183 basesExon 6: 165,487,438–165,487,577, 140 basesExon 7: 165,493,171–165,493,270, 100 basesExon 8: 165,495,559–165,495,677, 119 basesExon 9: 165,497,512–165,498,547, 1,036 bases1234567895′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 2.6 kb of the gene's 119.5 kb; 1,431 of those bases code for the protein.

How a genome test reads CPE

2

positions in CPE 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 119.5 kb of CPE, introns included, not only the 2.6 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.). CPE gene: carboxypeptidase E. Retrieved 16 October 2026, from https://dantelabs.com/genes/cpe

Vancouver

Dante Labs. CPE gene: carboxypeptidase E [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cpe

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