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Gene

PDE8B

phosphodiesterase 8B

Summary

Cytogenetic location
5q13.3
Coordinates
Chromosome 5: 77,210,680–77,428,256 (GRCh38)
Exons
22 exons across 217.6 kb
Protein
885 amino acids
Inheritance
Autosomal dominant
MANE Select transcript
ENST00000264917.10NM_003719.5
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

  • Carney Complex & Hereditary Adrenal Cushing Syndrome

    • Primary pigmented nodular adrenocortical diseaseAutosomal dominant

      Small pigmented adrenal nodules that produce cortisol independently of ACTH, causing Cushing syndrome, either alone or as part of Carney complex.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Biochemical screening for cortisol excess allows Cushing syndrome to be recognised and treated early.

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 PDE8B 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 PDE8B sits. PDE8B and 9 genes near it on chromosome 5, from 76,819,468 to 77,819,467.Chromosome 55q13.3p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.377 Mb77.2 Mb77.4 Mb77.6 Mb77.8 MbF2RL1: 76,818,933–76,836,611, forward strandF2RL1S100Z: 76,850,001–76,936,332, forward strandS100ZCRHBP: 76,952,857–76,981,315, forward strandCRHBPAGGF1: 77,029,251–77,065,234, forward strandAGGF1: 77,030,902–77,152,155, forward strandZBED3: 77,072,072–77,087,361, reverse strandZBED3PDE8B: 77,210,680–77,428,256, forward strandPDE8BWDR41: 77,424,462–77,620,611, reverse strandWDR41OTP: 77,628,712–77,638,713, reverse strandOTPTBCA: 77,690,172–77,868,780, reverse strandTBCADiagram of PDE8B: 22 exons on the forward strand of chromosome 5Exon 12: 1 known disease-causing siteExon 1: 77,210,680–77,211,264, 585 basesExon 2: 77,311,994–77,312,053, 60 basesExon 3: 77,325,539–77,325,729, 191 basesExon 4: 77,328,998–77,329,057, 60 basesExon 5: 77,331,402–77,331,459, 58 basesExon 6: 77,337,227–77,337,315, 89 basesExon 7: 77,344,853–77,344,931, 79 basesExon 8: 77,349,419–77,349,559, 141 basesExon 9: 77,351,065–77,351,153, 89 basesExon 10: 77,353,346–77,353,406, 61 basesExon 11: 77,400,248–77,400,290, 43 basesExon 12: 77,404,720–77,404,797, 78 basesExon 13: 77,407,381–77,407,457, 77 basesExon 14: 77,408,893–77,409,057, 165 basesExon 15: 77,411,676–77,411,721, 46 basesExon 16: 77,412,100–77,412,235, 136 basesExon 17: 77,413,111–77,413,309, 199 basesExon 18: 77,418,229–77,418,446, 218 basesExon 19: 77,419,767–77,419,887, 121 basesExon 20: 77,421,821–77,421,988, 168 basesExon 21: 77,425,767–77,425,896, 130 basesExon 22: 77,426,445–77,428,256, 1,812 bases15101520225′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 4.6 kb of the gene's 217.6 kb; 2,658 of those bases code for the protein.

How a genome test reads PDE8B

1

position in PDE8B 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 217.6 kb of PDE8B, introns included, not only the 4.6 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.). PDE8B gene: phosphodiesterase 8B. Retrieved 17 October 2026, from https://dantelabs.com/genes/pde8b

Vancouver

Dante Labs. PDE8B gene: phosphodiesterase 8B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pde8b

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