Human Gene Module / Chromosome 19 / PPP5C

PPP5Cprotein phosphatase 5 catalytic subunit

Score
1
High Confidence Criteria 1.1
Autism Reports / Total Reports
2 / 2
Rare Variants / Common Variants
3 / 0
Aliases
PPP5C, PP5,  PPP5,  PPT
Associated Syndromes
-
Genetic Category
Rare Single Gene Mutation
Chromosome Band
19q13.32
Associated Disorders
-
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).

Molecular Function

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)
Common Variants  

No common variants reported.

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SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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