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Gene

PDE4D

phosphodiesterase 4D

Summary

Cytogenetic location
5q11.2-q12.1
Coordinates
Chromosome 5: 58,969,038–59,893,726 (GRCh38)
Exons
15 exons across 924.7 kb
Protein
809 amino acids
Inheritance
Autosomal dominant
Previous symbols
DPDE3
MANE Select transcript
ENST00000340635.11NM_001104631.2
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

  • Pseudohypoparathyroidism & GNAS-Inactivation Disorders

    • AcrodysostosisAutosomal dominant

      A skeletal condition with short hands and feet and facial differences, sometimes with hormone resistance, caused by PRKAR1A or PDE4D variants.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PDE4D is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where PDE4D sits. PDE4D and 5 genes near it on chromosome 5, from 58,044,349 to 60,818,415.Chromosome 55q11.2-q12.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.358.5 Mb59 Mb59.5 Mb60 Mb60.5 MbPLK2: 58,453,091–58,460,139, reverse strandPLK2GAPT: 58,491,428–58,497,090, forward strandGAPTRAB3C: 58,582,221–58,859,394, forward strandRAB3CPDE4D: 58,969,038–59,893,726, reverse strandPDE4DDEPDC1B: 60,596,912–60,700,199, reverse strandDEPDC1BELOVL7: 60,751,791–60,844,589, reverse strandELOVL7Diagram of PDE4D: 15 exons on the reverse strand of chromosome 5Exon 15: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 7: 3 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 1 known disease-causing siteExon 15: 58,969,038–58,975,080, 6,043 basesExon 14: 58,975,657–58,975,839, 183 basesExon 13: 58,976,350–58,976,472, 123 basesExon 12: 58,977,191–58,977,345, 155 basesExon 11: 58,988,493–58,988,592, 100 basesExon 10: 58,989,755–58,989,919, 165 basesExon 9: 58,990,804–58,990,902, 99 basesExon 8: 58,991,832–58,992,004, 173 basesExon 7: 58,993,372–58,993,465, 94 basesExon 6: 59,038,859–59,038,971, 113 basesExon 5: 59,180,595–59,180,644, 50 basesExon 4: 59,185,189–59,185,262, 74 basesExon 3: 59,193,500–59,193,536, 37 basesExon 2: 59,215,777–59,215,968, 192 basesExon 1: 59,893,168–59,893,726, 559 bases1515′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 8.2 kb of the gene's 924.7 kb; 2,430 of those bases code for the protein.

How a genome test reads PDE4D

8

positions in PDE4D 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 924.7 kb of PDE4D, introns included, not only the 8.2 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.). PDE4D gene: phosphodiesterase 4D. Retrieved 17 October 2026, from https://dantelabs.com/genes/pde4d

Vancouver

Dante Labs. PDE4D gene: phosphodiesterase 4D [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pde4d

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