PRPS2

Chr X

phosphoribosyl pyrophosphate synthetase 2

Also known as: PRSII

NCBI Gene: 5634ENSG00000101911UniProt: P11908OMIM: 311860

This gene encodes phosphoribosyl pyrophosphate synthetase, which catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) essential for purine and pyrimidine nucleotide synthesis. Mutations cause X-linked intellectual disability, often with additional features affecting the nervous system. The gene is highly constrained against loss-of-function variants and follows X-linked inheritance.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.34
Clinical Summary— PRPS2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.94). One damaged copy is likely sufficient to cause disease.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.935
Z-score 2.73
OE 0.00 (0.00–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.05Z-score
OE missense 0.28 (0.21–0.36)
39 obs / 140.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.00 (0.00–0.34)
0≤0.351.4
Missense OE0.28 (0.21–0.36)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 0 / 8.7Missense obs/exp: 39 / 140.9Syn Z: 0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRPS2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Pseudoginsenoside F11 enhances YBX1-mediated transcriptional repression of PRPS2 to inhibit the stemness and pulmonary metastasis of triple- negative breast cancer.
Xu K et al.·Phytomedicine
2026
MtfA, a C2H2 transcriptional regulator, negatively regulates PRPS2-mediated biosynthesis of the adenosine analogue acadesine in Fusarium solani.
Chen Q et al.·Mycology
2026Open Access
PRPS2 enhances RNA m6A methylation by stimulating SAM synthesis through enzyme-dependent and independent mechanisms.
Zhang L et al.·Nat Commun
2025Open AccessFunctional
Host protein PRPS2 interact with the non-structural protein p17 of Avian Reovirus and promote viral replication.
Xiaomiao H et al.·Poult Sci
2025Open Access
PRPS2-mediated modulation of the antitumor immune response in lung cancer through CCL2-mediated tumor-associated macrophages and myeloid-derived suppressor cells.
Liu Q et al.·Thorac Cancer
2024Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients