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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PRPS2
phosphoribosyl pyrophosphate synthetase 2
Chromosome X · Xp22.2
NCBI Gene: 5634Ensembl: ENSG00000101911.14HGNC: HGNC:9465UniProt: A0A140VK41
107PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
identical protein bindingprotein bindingcytoplasmprotein homodimerization activitysystemic lupus erythematosusneurodegenerative diseaseCOVID-19severe acute respiratory syndrome
✦AI Summary

PRPS2 (phosphoribosyl pyrophosphate synthetase 2) is an X-linked enzyme that catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP), a crucial intermediate in nucleotide biosynthesis 1. Located at Xp22.2-p22.3, PRPS2 shares 95% sequence identity with PRPS1 but exhibits distinct regulatory properties 2. Unlike PRPS1, PRPS2 is less sensitive to allosteric inhibition due to four non-conserved residues that bypass typical ADP/GDP feedback inhibition, enabling sustained ATP production 3. The enzyme forms hexameric structures that can polymerize into filaments, with polymerization being essential for catalytic activity 2. PRPS2 demonstrates significant clinical relevance across multiple cancers. In acute lymphoblastic leukemia, therapy-induced PRPS2 mutations contribute to drug resistance and relapse 4. In lung cancer, PRPS2 is upregulated and promotes proliferation, migration, and invasion while inhibiting apoptosis 5. The enzyme also stabilizes MAT2A to enhance SAM synthesis for RNA m6A methylation, linking nucleotide metabolism to epigenetic regulation 3. In osteosarcoma, elevated PRPS2 expression correlates with poor prognosis and tumor recurrence 6. Additionally, PRPS2 upregulation in Sertoli-cell only syndrome inhibits apoptosis through p53/Bcl-2/caspase signaling pathways 7. These findings establish PRPS2 as both a potential biomarker and therapeutic target across various malignancies.

Sources cited
1
PRPS2 is X-linked and located at Xp22.2-p22.3, sharing 80% sequence homology with PRPS1
PMID: 1962753
2
PRPS2 shares 95% sequence identity with PRPS1 but is less sensitive to allosteric inhibition and forms hexameric filament structures
PMID: 37248548
3
PRPS2 bypasses ADP/GDP feedback inhibition via four non-conserved residues and stabilizes MAT2A for RNA m6A methylation
PMID: 40295500
4
Therapy-induced PRPS2 mutations contribute to drug resistance in acute lymphoblastic leukemia relapse
PMID: 31697823
5
PRPS2 is upregulated in lung cancer and promotes proliferation, migration, and invasion while inhibiting apoptosis
PMID: 38736292
6
Elevated PRPS2 expression in osteosarcoma correlates with poor prognosis and tumor recurrence
PMID: 33589531
7
PRPS2 upregulation in Sertoli-cell only syndrome inhibits apoptosis through p53/Bcl-2/caspase signaling pathways
PMID: 26004865
Disease Associationsⓘ20
systemic lupus erythematosusOpen Targets
0.29Weak
neurodegenerative diseaseOpen Targets
0.24Weak
COVID-19Open Targets
0.13Weak
severe acute respiratory syndromeOpen Targets
0.13Weak
neoplasmOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
acute lymphoblastic leukemiaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
lymphomaOpen Targets
0.07Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.05Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.05Suggestive
immune deficiency, familial variableOpen Targets
0.05Suggestive
immunodeficiency 86Open Targets
0.04Suggestive
hyper-IgM syndrome type 3Open Targets
0.04Suggestive
Sertoli Cell-Only SyndromeOpen Targets
0.04Suggestive
MHC class II deficiency 5Open Targets
0.04Suggestive
hyper-IgM syndrome type 2Open Targets
0.04Suggestive
hyper-IgM syndrome type 5Open Targets
0.04Suggestive
immunodeficiency, common variable, 14Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MSMBProtein interaction99%NUDT5Protein interaction98%GARTProtein interaction96%TKTL2Protein interaction96%PPATProtein interaction93%UMPSProtein interaction93%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
46%
Brain
20%
Liver
13%
Lung
10%
Heart
6%
Gene Interaction Network
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PRPS2MSMBNUDT5GARTTKTL2PPATUMPS
PROTEIN STRUCTURE
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PDB8YPY · 2.74 Å · X-ray
View on RCSB ↗
RankingsWhere PRPS2 stands among ~20K protein-coding genes
  • #4,455of 20,598
    Most Researched107 · top quartile
Genes detectedPRPS2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Therapy-induced mutations drive the genomic landscape of relapsed acute lymphoblastic leukemia.
PMID: 31697823
Blood · 2020
1.00
2
PRPS2 enhances RNA m
PMID: 40295500
Nat Commun · 2025
0.90
3
Structural basis of human PRPS2 filaments.
PMID: 37248548
Cell Biosci · 2023
0.80
4
Regulatory mechanism and expression level of PRPS2 in lung cancer.
PMID: 38736292
Thorac Cancer · 2024
0.70
5
Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.
PMID: 1962753
Genomics · 1990
0.60