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PPP2R3C

Chr 14q13.2

protein phosphatase 2 regulatory subunit B''gamma

Aliases:
FLJ20644, G4-1, G5PR
MANE:
ENST00000261475.10

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy

    0.70
  • neurodegenerative disease

    0.51
  • Gonadal dysgenesis, XY type - associated anomalies

    0.37
  • XY type gonadal dysgenesis-associated anomalies syndrome

    0.37
  • male infertility due to globozoospermia

    0.37
  • atopic eczema

    0.29
  • Eczematoid dermatitis

    0.24
  • premature birth

    0.24
  • dermatitis

    0.21
  • Abnormality of the skeletal system

    0.20

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

Protein function (UniProt)

Serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma

May regulate MCM3AP phosphorylation through phosphatase recruitment (By similarity). May act as a negative regulator of ABCB1 expression and function through the dephosphorylation of ABCB1 by TFPI2/PPP2R3C complex (PubMed:24333728). May play a role in the activation-induced cell death of B-cells (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.