Aliases:
Chromosome No: 19
Chromosome Band: 19p13.11
Genetic Category: Rare single gene variant-Syndromic
ASD Reports: 6
Recent Reports: 1
Annotated variants: 15
Associated CNVs: 5
Evidence score: 3
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Relevance to Autism
De novo missense variants in the SIN3B gene have been identified in ASD probands from the Simons Simplex Collection (Iossifov et al., 2014) and the Autism Sequencing Consortium (Satterstrom et al., 2020), while an inherited protein-truncating variant in this gene was observed in an ASD proband from the iHART cohort (Ruzzo et al., 2019). Latypova et al., 2021 identified nine individuals with heterozygous SIN3B deletions or single-nucleotide variants who presented with a syndrome hallmarked by intellectual disability, developmental delay, and dysmorphic facial features with variably penetrant autism spectrum disorder, congenital malformations, corpus callosum defects, and impaired growth.
Molecular Function
Acts as a transcriptional repressor. Interacts with MXI1 to repress MYC responsive genes and antagonize MYC oncogenic activities. Interacts with MAD-MAX heterodimers by binding to MAD. The heterodimer then represses transcription by tethering SIN3B to DNA. Also forms a complex with FOXK1 which represses transcription. With FOXK1, regulates cell cycle progression probably by repressing cell cycle inhibitor genes expression.
External Links
