Gene Gene information from NCBI Gene database.
Entrez ID 5634
Gene name Phosphoribosyl pyrophosphate synthetase 2
Gene symbol PRPS2
Synonyms (NCBI Gene)
PRSII
Chromosome X
Chromosome location Xp22.2
Summary This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate
miRNA miRNA information provided by mirtarbase database.
227
miRTarBase ID miRNA Experiments Reference
MIRT024389 hsa-miR-215-5p Microarray 19074876
MIRT026537 hsa-miR-192-5p Microarray 19074876
MIRT029585 hsa-miR-26b-5p Microarray 19088304
MIRT1266009 hsa-miR-103a CLIP-seq
MIRT1266010 hsa-miR-107 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000287 Function Magnesium ion binding IEA
GO:0004749 Function Ribose phosphate diphosphokinase activity IBA
GO:0004749 Function Ribose phosphate diphosphokinase activity IEA
GO:0004749 Function Ribose phosphate diphosphokinase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
311860 9465 ENSG00000101911
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P11908
Protein name Ribose-phosphate pyrophosphokinase 2 (EC 2.7.6.1) (PPRibP) (Phosphoribosyl pyrophosphate synthase II) (PRS-II)
Protein function Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
PDB 7YK1 , 8YI9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13793 Pribosyltran_N 4 120 N-terminal domain of ribose phosphate pyrophosphokinase Domain
PF14572 Pribosyl_synth 200 314 Phosphoribosyl synthetase-associated domain Domain
Sequence
Sequence length 318
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pentose phosphate pathway
Purine metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
  5-Phosphoribose 1-diphosphate biosynthesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SYSTEMIC LUPUS ERYTHEMATOSUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Burkitt Lymphoma Associate 32391636
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 30908912
★☆☆☆☆
Found in Text Mining only
Graves Ophthalmopathy Associate 37884559
★☆☆☆☆
Found in Text Mining only
Melanoma Associate 18677108
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 23807417, 27448979, 28811348
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Associate 27448979
★☆☆☆☆
Found in Text Mining only