Aliases: HSPC187, PKD2, nPKC-D2
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant-
ASD Reports: 3
Recent Reports: 1
Annotated variants: 2
Associated CNVs: 2
Evidence score: 3
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.
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.