Aliases: PTBLP, brPTB, nPTB
Chromosome No: 1
Chromosome Band: 1p21.3
Genetic Category: Rare single gene variant-Genetic association-Functional-Rare single gene variant/Functional
ASD Reports: 9
Recent Reports: 2
Annotated variants: 8
Associated CNVs: 8
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A previously unreported 5 bp indel variant located in a human accelerated region (HAR) between the DPYD and PTBP2 genes was homozygous in two brothers with ASD and ID from a consanguineous family; 4C-seq in human SH-SY5Y cell suggested an interaction between this HAR and the PTBP2 promoter, and luciferase reporter assays demonstrated that this indel variant reduced activity in N2A cells co-transfected with DN-REST and in primary mouse neurospheres (Doan et al., 2016). A de novo predicted damaging missense variant in PTBP2 was observed in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014). Masson et al., 2025 described two unrelated male individuals with de novo PTBP2 variants that were experimentally shown in transfected NIH-3T3 cells to result in cytoplasmic retention and colocalization with processing bodies; both individuls presented with ASD, ADHD, developmental delay, and intellectual disability.
Molecular Function
The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain.
External Links
