Human Gene Module / Chromosome 3 / PAK2

PAK2p21 (RAC1) activated kinase 2

Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
1 / 4
Rare Variants / Common Variants
3 / 0
Aliases
PAK2, PAK65,  PAKgamma
Associated Syndromes
3q29 microdeletion syndrome
Genetic Category
Rare Single Gene Mutation
Chromosome Band
3q29
Associated Disorders
-
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).

Molecular Function

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)
Common Variants  

No common variants reported.

CNVs associated with PAK2(1 CNVs)
3q29 53 Deletion-Duplication 86  /  431
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