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PDE11A

Chr 2q31.2

phosphodiesterase 11A

MANE:
ENST00000286063.11

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary pigmented nodular adrenocortical disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • primary pigmented nodular adrenocortical disease

    0.63
  • myopia

    0.47
  • refractive error

    0.42
  • smoking initiation

    0.39
  • Carney complex

    0.39
  • Progressive visual loss

    0.38
  • sleep apnea syndrome

    0.36
  • substance-related disorder

    0.31
  • radiculitis

    0.29
  • Abnormality of refraction

    0.28

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A

Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP (PubMed:10725373, PubMed:10906126, PubMed:11050148, PubMed:16330539). Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively (PubMed:10725373, PubMed:10906126, PubMed:11050148)

Curated MONDO disease pages that list PDE11A among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.