• Gene id: 5634

Gene Summary

• Gene Symbol: PRPS2   Gene   UCSC   Ensembl
• Aliases: PRSII
• Gene name: phosphoribosyl pyrophosphate synthetase 2
• Alternate names: ribose-phosphate pyrophosphokinase 2, PPRibP synthetase, PRS-II, phosphoribosyl pyrophosphate synthase II, ribose-phosphate diphosphokinase 2, testicular secretory protein Li 41,
• Gene location: Xp22.2 (92900320: 93028006)     Exons: 39     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 311860

Protein Summary

• Protein general information: P11908  
  • Name: Ribose phosphate pyrophosphokinase 2 (EC 2.7.6.1) (PPRibP) (Phosphoribosyl pyrophosphate synthase II) (PRS II)
  • Length: 318  
  • Mass: 34,769
• Sequence:

  MPNIVLFSGSSHQDLSQRVADRLGLELGKVVTKKFSNQETSVEIGESVRGEDVYIIQSGCGEINDNLMELLIMIN
  ACKIASSSRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDIPVDNLYAEPA
  VLQWIRENIAEWKNCIIVSPDAGGAKRVTSIADRLNVEFALIHKERKKANEVDRMVLVGDVKDRVAILVDDMADT
  CGTICHAADKLLSAGATKVYAILTHGIFSGPAISRINNAAFEAVVVTNTIPQEDKMKHCTKIQVIDISMILAEAI
  RRTHNGESVSYLFSHVPL

• Structural information:
  • Interpro: IPR000842  IPR029099  IPR000836  IPR029057  IPR005946   IPR037515  
  • Prosite: PS00114
  • CDD: cd06223
  • STRING: ENSP00000381504
• Other Databases: GeneCards:  PRPS2  Malacards:  PRPS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	ISS	molecular function
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process	IEA	biological process
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0009156	ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009165	nucleotide biosynthetic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	IEA	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	IEA	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	ISS	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	ISS	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006015	5-phosphoribose 1-diphosphate biosynthetic process	IEA	biological process
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0009156	ribonucleoside monophosphate biosynthetic process	IEA	biological process
GO:0009165	nucleotide biosynthetic process	IEA	biological process
GO:0009165	nucleotide biosynthetic process	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0044249	cellular biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0070062	extracellular exosome	IDA	cellular component
GO:0004749	ribose phosphate diphosphokinase activity	ISS	molecular function
GO:0004749	ribose phosphate diphosphokinase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	ISS	molecular function
GO:0006139	nucleobase-containing compound metabolic process	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids

Diseases

Associated diseases	References
Sertoli cell only syndrome (SCOS)	MIK: 26004865
Sertoli-Cell Only Syndrome	MIK: 26004865
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26004865	Sertoli-Cell Only Syndrome				Male infertility
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)