Skip to content
GenoLensGenoLens

PDYN

Chr 20p13

prodynorphin

Aliases:
PENKB, ADCA
MANE:
ENST00000217305.3

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ataxia and cerebellar anomalies - narrow panel

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Hereditary ataxia

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Hereditary neuropathy or pain disorder

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Childhood onset dystonia, chorea or related movement disorder

  • Hereditary neuropathy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Adult onset neurodegenerative disorder

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Hereditary ataxia with onset in adulthood

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • spinocerebellar ataxia type 23

    0.79
  • rectosigmoid junction neoplasm

    0.29
  • neurodegenerative disease

    0.26
  • hereditary disease

    0.19
  • thrombocytopenia 4

    0.14
  • hemorrhagic disease

    0.13
  • Anxiety

    0.10
  • polycystic ovary syndrome

    0.08
  • alcohol dependence

    0.07
  • alcohol drinking

    0.07

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

Protein function (UniProt)

Proenkephalin-B

Leu-enkephalins compete with and mimic the effects of opiate drugs. They play a role in a number of physiologic functions, including pain perception and responses to stress (By similarity)

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.