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PPP2R2B

Chr 5q32

protein phosphatase 2 regulatory subunit Bbeta

Aliases:
PR55-BETA, PR52B, B55beta
MANE:
ENST00000394411.9

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Intellectual disability

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

    Other
  • Adult onset neurodegenerative disorder

    Other
  • Ataxia and cerebellar anomalies - narrow panel

    Other
  • Childhood onset dystonia, chorea or related movement disorder

    Other
  • DDG2P

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

    Other

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Disease associations (Open Targets)

  • neurodegenerative disease

    0.50
  • spinocerebellar ataxia type 12

    0.48
  • schizophrenia

    0.36
  • rheumatic disorder

    0.33
  • placental abruption

    0.30
  • sialadenitis

    0.30
  • premature birth

    0.30
  • jaw disease

    0.29
  • digestive system neoplasm

    0.29
  • dermatophytosis

    0.27

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

Protein function (UniProt)

Serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta 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. Within the PP2A holoenzyme complex, isoform 2 is required to promote proapoptotic activity (By similarity). Isoform 2 regulates neuronal survival through the mitochondrial fission and fusion balance (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.