PDE1C
Homo sapiens
Gene Name: phosphodiesterase 1C
Aliases: Hcam3, cam-PDE 1C, hCam-3
Chromosome No: 7
Chromosome Band: 7p14.3
Genetic Category: Rare Single Gene variant-Genetic association
Aliases: Hcam3, cam-PDE 1C, hCam-3
Chromosome No: 7
Chromosome Band: 7p14.3
Genetic Category: Rare Single Gene variant-Genetic association
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 6
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 6
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
An intronic SNP in the PDE1C gene was found to associate with ASD (P-value < 1.0E-04) in a GWAS meta-analysis of 7387 ASD cases and 8567 controls (Autism Spectrum Disorders Working Group of the Psychiatric Genomics Consortium 2017). Inherited missense variants in the PDE1C gene have been identified in ASD probands in two reports (Vaags et al., 2012; Krupp et al., 2017).
Molecular Function
Cyclic nucleotide phosphodiesterases (PDEs) catalyze hydrolysis of the cyclic nucleotides cAMP and cGMP to the corresponding nucleoside 5-prime-monophosphates. Members of the PDE1 family, such as PDE1C, are calmodulin-dependent PDEs (CaM-PDEs) that are stimulated by a calcium-calmodulin complex.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
ASD
Positive Association
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with ...
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN309C001
intron_variant
rs11976985
c.1892-4045A>G;c.1891+14727A>G;c.2071+14727A>G;c.2072-4045A>G;c.2297-4045A>G;c.1894+14727A>G;c.1864+
7387 ASD cases and 8567 controls from Autism Center of Excellence Network (ACE), Autism Genetic Resource Exchange (AGRE), Autism Genome Project (AGP), Finnish Case-Control ASD Collection, NIMH Repository and Montreal/Boston (MonBos) Collection, Population-Based Autism Genetics and Environment Study (PAGES), Simons Simplex Collection (SSC), and Weiss Laboratory Autism Collection
Discovery