Gene
PDE11A
phosphodiesterase 11A
- HGNC 8773↗(opens in a new tab)
- Ensembl gene ENSG00000128655↗(opens in a new tab)
- NCBI Gene 50940↗(opens in a new tab)
Summary
- Cytogenetic location
- 2q31.2
- Coordinates
- Chromosome 2: 177,623,244–178,072,777 (GRCh38)
- Exons
- 20 exons across 449.5 kb
- Protein
- 933 amino acids
- Inheritance
- Autosomal dominant
- MANE Select transcript
- ENST00000286063.11NM_016953.4
- 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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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 PDE11A 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 9.3 kb of the gene's 449.5 kb; 2,802 of those bases code for the protein.
How a genome test reads PDE11A
11
positions in PDE11A 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 449.5 kb of PDE11A, introns included, not only the 9.3 kb of exons.
Genes linked to the same conditions
Traits linked to PDE11A
The Human Phenotype Ontology lists these as features of the rare conditions PDE11A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the integument
- Atypical nevi in non-sun exposed areas
- Blue nevus
- Cutaneous myxoma
- Liver spots
- Multiple birthmarks
- Spotty increased pigmentation
- Buffalo hump
- Excessive hairiness
Show 2 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.
- 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
Dante Labs. (n.d.). PDE11A gene: phosphodiesterase 11A. Retrieved 17 October 2026, from https://dantelabs.com/genes/pde11a
Dante Labs. PDE11A gene: phosphodiesterase 11A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pde11a
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