PPP5Cprotein phosphatase 5 catalytic subunit
Autism Reports / Total Reports2 / 2
Rare Variants / Common Variants3 / 0
AliasesPPP5C, PP5, PPP5, PPT
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Three de novo missense variants that were predicted to be possibly damaging (defined as 1 MPC 2) were identified in the PPP5C gene in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (Iossifov et al., 2014; Satterstrom et al., 2020). TADA analysis of de novo variants from the Simons Simplex Collection and the Autism Sequencing Consortium and protein-truncating variants from iPSYCH in Satterstrom et al., 2020 identified PPP5C as a candidate gene with a false discovery rate (FDR) between 0.05 and 0.1 (0.05 < FDR 0.1).
This gene encodes a serine/threonine phosphatase which is a member of the protein phosphatase catalytic subunit family. Proteins in this family participate in pathways regulated by reversible phosphorylation at serine and threonine residues; many of these pathways are involved in the regulation of cell growth and differentiation. The product of this gene has been shown to participate in signaling pathways in response to hormones or cellular stress, and elevated levels of this protein may be associated with breast cancer development.
Reports related to PPP5C (2 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||The contribution of de novo coding mutations to autism spectrum disorder||Iossifov I et al. (2014)||Yes||-|
|2||Recent recommendation||Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism||Satterstrom FK et al. (2020)||Yes||-|
Rare Variants (3)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.1057G>A||p.Gly353Arg||missense_variant||De novo||NA||Simplex||25363768||Iossifov I et al. (2014)|
|c.1420C>T||p.His474Tyr||missense_variant||De novo||NA||Simplex||25363768||Iossifov I et al. (2014)|
|c.847G>A||p.Glu283Lys||missense_variant||De novo||NA||Simplex||31981491||Satterstrom FK et al. (2020)|
No common variants reported.