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PPP2R5C

Chr 14q32.31

protein phosphatase 2 regulatory subunit B'gamma

Aliases:
B56G, PR61G, B56gamma
MANE:
ENST00000694906.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Early onset or syndromic epilepsy

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

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • Houge-Janssens syndrome 4

    0.53
  • cancer

    0.53
  • neurodegenerative disease

    0.48
  • complex neurodevelopmental disorder

    0.42
  • chronic myelogenous leukemia, BCR-ABL1 positive

    0.39
  • vertebral column disorder

    0.29
  • Intellectual disability

    0.27
  • restless legs syndrome

    0.24
  • Alzheimer disease

    0.24
  • transient ischemic attack

    0.23

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

Protein function (UniProt)

Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit gamma isoform

The B regulatory subunit might modulate substrate selectivity and catalytic activity, and might also direct the localization of the catalytic enzyme to a particular subcellular compartment. The PP2A-PPP2R5C holoenzyme may specifically dephosphorylate and activate TP53 and play a role in DNA damage-induced inhibition of cell proliferation. PP2A-PPP2R5C may also regulate the ERK signaling pathway through ERK dephosphorylation

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.