Aliases: HcGIP1, cGIPDE1
Chromosome No: 11
Chromosome Band: 11p15.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 8
Recent Reports: 0
Annotated variants: 24
Associated CNVs: 2
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A de novo non-coding variant that was predicted to target the PDE3B gene via chromatin interactions was identified in a Korean ASD proband from a simplex family in Kim et al., 2022; functional analysis n human induced pluripotent stem cells derived from the proband and the proband's parents demonstrated that this variant resulted in significantly reduced levels of PDE3B expression in patient-derived hiPSCs compared to parent-derived hiPSCs. Additional rare de novo non-coding variants in this gene have been identified in ASD probands from the Simons Simplex Collection and the MSSNG cohort (Turner et al., 2016; Yuen et al., 2016; Yuen et al., 2017; Turner et al, 2017); while a paternally-inherited frameshift variant in PDE3B was identified in two of three ASD-affected siblings from a multiplex family from the iHART cohort (Ruzzo et al., 2019).
Molecular Function
Enables 3',5'-cyclic-nucleotide phosphodiesterase activity. Involved in negative regulation of angiogenesis; negative regulation of cell adhesion; and negative regulation of lipid catabolic process. Located in membrane. Part of guanyl-nucleotide exchange factor complex.
External Links
