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PDE8B

Chr 5q13.3

phosphodiesterase 8B

MANE:
ENST00000264917.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Primary pigmented nodular adrenocortical disease

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Parkinson Disease and Complex Parkinsonism

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • autosomal dominant striatal neurodegeneration type 1

    0.59
  • coronary artery disorder

    0.54
  • stroke disorder

    0.53
  • pigmented nodular adrenocortical disease, primary, 3

    0.52
  • hypothyroidism

    0.51
  • dysuria

    0.46
  • thyroid gland disorder

    0.46
  • hyperthyroidism

    0.46
  • thyrotoxicosis

    0.45
  • nodular goiter

    0.44

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

Protein function (UniProt)

High affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B

Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in specific signaling in the thyroid gland

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.