GSPT2

Chr X

G1 to S phase transition 2

Also known as: ERF3B, GST2

NCBI Gene: 23708 ENSG00000189369 UniProt: Q8IYD1 OMIM: 300418

The protein is a GTPase that forms a complex with eukaryotic release factor 1 to mediate translation termination at stop codons and plays a role in nonsense-mediated mRNA decay. Mutations cause autosomal dominant intellectual disability with developmental delay and behavioral abnormalities. This gene is highly constrained against loss-of-function variants (pLI = 0.98, LOEUF = 0.24), indicating that haploinsufficiency is likely not tolerated in the general population.

OMIM ResearchSummary from RefSeq, UniProt

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.[provided by RefSeq, Mar 2010]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· G2P