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Relevance to Autism

De novo missense variants in the PRKD2 gene were identified in two ASD probands (De Rubeis et al., 2014; Hashimoto et al., 2016); functional analysis in Matsumura et al., 2019 demonstrated that both ASD-associated missense variants caused statistically significant decreases in PKD2 autophosphorylation and ERK1/2 phosphorylation.

Molecular Function

The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder.
ASD
Recent Recommendation
Autism-associated protein kinase D2 regulates embryonic cortical neuron development.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1128R001 
 missense_variant 
 c.694C>T 
 p.Arg232Cys 
 De novo 
 NA 
  
 GEN1128R002 
 missense_variant 
 c.548G>A 
 p.Ser183Asn 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 13
 
19
Duplication
 2
 

No Animal Model Data Available

 

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