PAK2p21 (RAC1) activated kinase 2
Autism Reports / Total Reports1 / 4
Rare Variants / Common Variants3 / 0
AliasesPAK2, PAK65, PAKgamma
Associated Syndromes3q29 microdeletion syndrome
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
Pak2 +/- mice were found to exhibit reduced spine density, defective long-term potentiation, impaired actin polymerization, and autism-related behaviors, including increased stereotypic behavior and reduced social interactions (Wang et al., 2018); in the same report, a rare de novo nonsense variant and inherited damaging missense variants in the PAK2 gene were identified in Han Chinese ASD probands. PAK2 resides within the 1.5-Mb region on chromosome 3q29 that defines the 3q29 microdeletion syndrome (OMIM 609425) and may contribute to the phenotypes observed in affected individuals, including autism/autistic features and schizophrenia in some individuals (Willatt et al., 2015; Mulle et al., 2010; Quintero-Rivera et al., 2010).
The PAK2 gene encodes a serine/threonine protein kinase that plays a role in a variety of different signaling pathways including cytoskeleton regulation, cell motility, cell cycle progression, apoptosis or proliferation, and that acts as downstream effector of the small GTPases CDC42 and RAC1.
Reports related to PAK2 (4 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Support||3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.||Willatt L , et al. (2005)||No||-|
|2||Support||Microdeletions of 3q29 confer high risk for schizophrenia.||Mulle JG , et al. (2010)||No||-|
|3||Support||Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.||Quintero-Rivera F , et al. (2010)||No||-|
|4||Primary||PAK2 Haploinsufficiency Results in Synaptic Cytoskeleton Impairment and Autism-Related Behavior.||Wang Y , et al. (2018)||Yes||-|
Rare Variants (3)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|c.1435C>T||p.Arg479Ter||stop_gained||De novo||-||Simplex||30134165||Wang Y , et al. (2018)|
|c.931G>A||p.Asp311Asn||missense_variant||Familial||Paternal||Simplex||30134165||Wang Y , et al. (2018)|
|c.1570C>T||p.Arg524Cys||missense_variant||Familial||Maternal||Simplex||30134165||Wang Y , et al. (2018)|
No common variants reported.
CNVs associated with PAK2(1 CNVs)
|3q29||53||Deletion-Duplication||86 / 431|