GSPT2
G1 to S Phase Transition 2
Gene Information Card
| Symbol | GSPT2 |
|---|---|
| Full Name | G1 to S Phase Transition 2 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.22 |
| NCBI Gene ID | 23708 ncbi.nlm.nih.gov/gene/23708 |
| Ensembl ID | ENSG00000189337 |
| UniProt ID | Q8IYD1 |
| OMIM ID | 300578 |
| HGNC ID | 4622 |
| Aliases | eRF3b, GSTP2, FLJ10980 |
Description
GSPT2 (G1 to S Phase Transition 2) encodes a member of the GTP-binding elongation factor family, eukaryotic peptide chain release factor GTP-binding subunit eRF3b. This protein is involved in translation termination by stimulating the activity of the eukaryotic release factor eRF1. GSPT2 is expressed in various tissues and plays a role in cell cycle progression and protein synthesis fidelity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual developmental disorder, X-linked 107 (MRX107) | Loss-of-function mutations in GSPT2 impair translation termination, leading to neurodevelopmental defects. | ClinVar, OMIM |
| Autism spectrum disorder (ASD) | Rare variants in GSPT2 have been associated with ASD risk, possibly through altered translational control. | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Moderate expression |
| HeLa | 10.8 | Low expression |
| K562 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Premature stop, loss of function |
| c.1573G>A (p.Gly525Arg) | Missense | Rare | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated or absent eRF3b protein.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • translation termination factor activity | • GTP binding |
| • GTPase activity | • cytoplasm |
| • ribosome |
Pathways
• Eukaryotic translation termination
• nonsense-mediated decay (NMD)
Protein Summary
The GSPT2 protein (eRF3b) is a GTPase that forms a complex with eRF1 to mediate translation termination. It binds GTP and hydrolyzes it to GDP, facilitating stop codon recognition and polypeptide release. eRF3b is essential for accurate protein synthesis and is implicated in cell cycle control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSPT2 Knockout HEK293 Cell Line | EDJ-KQ8121 | Human | 23708 | Details Get a Quote |
| GSPT2 Knockout A-549 Cell Line | EDJ-KQ34006 | Human | 23708 | Details Get a Quote |
| GSPT2 Knockout HeLa Cell Line | EDJ-KQ55796 | Human | 23708 | Details Get a Quote |
| GSPT2 Knockout HCT 116 Cell Line | EDJ-KQ72741 | Human | 23708 | Details Get a Quote |
