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PRKAR1B

Chr 7p22.3

protein kinase cAMP-dependent type I regulatory subunit beta

MANE:
ENST00000537384.6
OMIM: 176911 ↗NCBI: 5575 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • Marbach-Schaaf neurodevelopmental syndrome

    0.65

  • primary ciliary dyskinesia

    0.54

  • neurodegenerative disease

    0.33

  • esophageal disorder

    0.26

  • mixed connective tissue disease

    0.26

  • Varicose veins

    0.25

  • anaphylaxis

    0.24

  • alcohol drinking

    0.24

  • stroke disorder

    0.24

  • oropharynx cancer

    0.21

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

Protein function (UniProt)

cAMP-dependent protein kinase type I-beta regulatory subunit

Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells

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.