Aliases: BAI1, GDAIF
Chromosome No: 8
Chromosome Band: 8q24.3
Genetic Category: Rare single gene variant-Functional
ASD Reports: 11
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 8
Evidence score: 3
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Relevance to Autism
Two de novo missense variants with CADD scores > 30 were identified in the ADGRB1 gene in a Korean ASD proband in Kim et al., 2024; this gene was subsequently classified as an ASD candidate gene in males following a combined TADA analysis consisting of the Korean ASD cohort described in Kim et al., 2024 in addition to the Simons Simplex Collection and the SPARK cohort. A de novo loss-of-function variant in ADGRB1 was identified in an SSC proband, and two additional de novo missense variants with CADD scores > 30 were identified in this gene in ASD probands from the Autism Sequencing Consortium and SPARK (Iossifov et al., 2014; Satterstrom et al., 2020; Zhou et al., 2022). De novo missense variants in ADGRB1 have also been identified in ASD probands from Japanese and Chinese cohorts (Takata et al., 2018; Yuan et al., 2023; Wang et al., 2023).
Molecular Function
Inhibits MDM2-mediated ubiquitination and degradation of DLG4/PSD95, promoting DLG4 stability and regulating synaptic plasticity. Required for the formation of dendritic spines by ensuring the correct localization of PARD3 and TIAM1.
External Links
