PRKD2
Homo sapiens
Gene Name: protein kinase D2
Aliases: HSPC187, PKD2, nPKC-D2
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant-
Aliases: HSPC187, PKD2, nPKC-D2
Chromosome No: 19
Chromosome Band: 19q13.32
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 2
Evidence score: 3
ASD Reports: 4
Recent Reports: 1
Annotated variants: 4
Associated CNVs: 2
Evidence score: 3
| Associated Disorders: |
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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.
