Gene
PEPD
peptidase D
- HGNC 8840↗(opens in a new tab)
- Ensembl gene ENSG00000124299↗(opens in a new tab)
- NCBI Gene 5184↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.11
- Coordinates
- Chromosome 19: 33,386,950–33,521,791 (GRCh38)
- Exons
- 15 exons across 134.8 kb
- Protein
- 493 amino acids
- MANE Select transcript
- ENST00000244137.12NM_000285.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads PEPD yet. The test sequences your whole genome, so your data includes it all the same.
How PEPD is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 1.9 kb of the gene's 134.8 kb; 1,482 of those bases code for the protein.
How a genome test reads PEPD
20
positions in PEPD 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 134.8 kb of PEPD, introns included, not only the 1.9 kb of exons.
Traits linked to PEPD
The Human Phenotype Ontology lists these as features of the rare conditions PEPD can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Depressed nasal bridge
- Prominent forehead
- Abnormal facial shape
- Dental cavities
- Flat nose
- Little lower jaw
- Low frontal hairline
- Cheekbone underdevelopment
Show 4 more traits
External links
Gene records
Transcript
Protein
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.
- 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
Dante Labs. (n.d.). PEPD gene: peptidase D. Retrieved 16 October 2026, from https://dantelabs.com/genes/pepd
Dante Labs. PEPD gene: peptidase D [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pepd
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