GSPT2G1 to S phase transition 2
Autism Reports / Total Reports
1 / 5Rare Variants / Common Variants
7 / 0Aliases
-Associated Syndromes
-Chromosome Band
Xp11.22Associated Disorders
-Relevance to Autism
Wei et al., 2025 described six individuals from six unrelated Chinese families carrying hemizygous missense variants in the GSPT2 gene presenting with severe intellectual disability/learning disability (5/5), developmental delay with severely delayed speech development (5/5), autism spectrum disorder (3/5), ADHD (3/5), seizures (3/5), and brain malformations (3/5); functional assessment of these variants by Western blot analysis of GSPT2-deficient H4 neuroglioma cells transfected with wild-type or mutant HA-GSPT2 demonstrated either reduced or increased protein expression compared to wild-type. Furthermore, Wei et al., 2025 found that GSPT2-deficient H4 cells displayed a slower growth rate and downregulation of cell proliferation and neurodevelopmental markers compared to wild-type cells. A maternally-inherited hemizygous missense variant in GSPT2 was previously identified in a male ASD proband from a simplex family of Middle Eastern ancestry (Gogate et al., 2024), while copy number variation affecting the GSPT2 gene has been previously reported in individuals presenting with syndromic and non-syndromic intellectual disability (Whibley et al., 2010; Grau et al., 2017; Al-Shehhi et al., 2019).
Molecular Function
This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.
External Links
SFARI Genomic Platforms
Reports related to GSPT2 (5 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Support | Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability | Whibley AC , et al. (2010) | No | - |
| 2 | Support | - | Christina Grau et al. (2017) | No | - |
| 3 | Support | - | Halima Al-Shehhi et al. (2019) | No | - |
| 4 | Support | - | Ashlesha Gogate et al. (2024) | Yes | - |
| 5 | Primary | - | Yuda Wei et al. (2026) | No | ASD, ADHD, epilepsy/seizures |
Rare Variants (7)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| c.186C>A | p.Asn62Lys | missense_variant | Familial | Maternal | Simplex | 41420448 | Wangfang Xie et al. () | |
| c.449G>T | p.Trp150Leu | missense_variant | Familial | Maternal | Simplex | 41420448 | Wangfang Xie et al. () | |
| c.665A>G | p.Gln222Arg | missense_variant | Familial | Maternal | Simplex | 41420448 | Wangfang Xie et al. () | |
| c.1413A>C | p.Glu471Asp | missense_variant | Familial | Maternal | Simplex | 41420448 | Wangfang Xie et al. () | |
| c.1477A>C | p.Ile493Leu | missense_variant | Familial | Maternal | Simplex | 41420448 | Wangfang Xie et al. () | |
| c.1817T>G | p.Phe606Cys | missense_variant | Familial | Maternal | Simplex | 41420448 | Wangfang Xie et al. () | |
| c.584C>T | p.Pro195Leu | missense_variant | Familial | Maternal | Simplex | 39632905 | Ashlesha Gogate et al. (2024) |
Common Variants
No common variants reported.