GSPT2

Chr Xp11.22

G1 to S phase transition 2

Aliases:: eRF3b, FLJ10441
MANE:: ENST00000340438.6

OMIM: 300418 ↗NCBI: 23708 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GSPT2 · Q8IYD1

v62025-08-01

Predicted Aligned Error matrix for GSPT2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.2/ 100

Confident

628 residues

Confidence breakdown

Very high(≥ 90)48%
Confident(70–90)21%
Low(50–70)4%
Very low(< 50)28%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

autism
0.33
Seizure
0.33
Delayed speech and language development
0.33
cancer
0.12
hepatocellular carcinoma
0.04
endometrial cancer
0.04
spinal muscular atrophy
0.03
neoplasm
0.03
laryngotracheoesophageal cleft
0.03
Atrophy/Degeneration affecting the central nervous system
0.03

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Eukaryotic peptide chain release factor GTP-binding subunit ERF3B

GTPase component of the eRF1-eRF3-GTP ternary complex, a ternary complex that mediates translation termination in response to the termination codons UAA, UAG and UGA (PubMed:11524954, PubMed:15987998, PubMed:17562865). GSPT2/ERF3B mediates ETF1/ERF1 delivery to stop codons: The eRF1-eRF3-GTP complex binds to a stop codon in the ribosomal A-site (PubMed:15987998). GTP hydrolysis by GSPT2/ERF3B induces a conformational change that leads to its dissociation, permitting ETF1/ERF1 to accommodate fully in the A-site (PubMed:15987998). Component of the transient SURF complex which recruits UPF1 to stalled ribosomes in the context of nonsense-mediated decay (NMD) of mRNAs containing premature stop codons (PubMed:19417104)