protein
Serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit delta isoform
Gene
PPP2R5D
Organism
Homo sapiens(9606)
Length
602 aa
Mass
69,992 Da
PPP2R5D encodes a 56 kDa regulatory subunit delta isoform of protein phosphatase 2A (PP2A). As a B regulatory subunit, it functions to modulate substrate selectivity and catalytic activity of the PP2A holoenzyme, and likely directs localization of the catalytic enzyme to specific subcellular compartments (UniProt: Q14738).
PPP2R5D is widely expressed across tissues and operates within cellular phosphorylation regulation pathways. Mutations in this gene cause Houge-Janssens syndrome 1 (HJS1), an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, hypotonia, intellectual disability of variable severity, speech impairment, and dysmorphic facial features, with some individuals exhibiting macrocephaly and seizures (UniProt: Q14738).
PPP2R5D is classified by SFARI as a category 2 gene with syndromic autism association (SFARI Cat 2), indicating evidence linking mutations to autism spectrum disorder within the context of broader neurodevelopmental syndromes.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
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
Disease associations
Houge-Janssens syndrome 1HJS1
An autosomal dominant disorder characterized by global developmental delay, hypotonia, variably impaired intellectual development, poor speech, and dysmorphic facial features. Additional more variable features may include macrocephaly and seizures.
Sources
Last updated 5/6/2026, 5:23:56 AM