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    PRPS2 phosphoribosyl pyrophosphate synthetase 2 [ Homo sapiens (human) ]

    Gene ID: 5634, updated on 28-Oct-2024

    Summary

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    Official Symbol
    PRPS2provided by HGNC
    Official Full Name
    phosphoribosyl pyrophosphate synthetase 2provided by HGNC
    Primary source
    HGNC:HGNC:9465
    See related
    Ensembl:ENSG00000101911 MIM:311860; AllianceGenome:HGNC:9465
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRSII
    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 splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
    Expression
    Broad expression in testis (RPKM 94.5), adrenal (RPKM 26.5) and 22 other tissues See more
    Orthologs
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    Genomic context

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    See PRPS2 in Genome Data Viewer
    Location:
    Xp22.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (12791412..12824222)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (12372896..12405716)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (12809531..12842341)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene FERM and PDZ domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29411 Neighboring gene ribosomal protein L17 pseudogene 49 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:12597924-12599123 Neighboring gene RN7SK pseudogene 290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20663 Neighboring gene MED14-independent group 3 enhancer GRCh37_chrX:12837926-12839125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29412 Neighboring gene mitochondrial ribosomal protein L35 pseudogene 4 Neighboring gene proteasome subunit alpha 6 pseudogene 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus. Zhang Y, et al. Hum Mol Genet, 2015 Jan 1. PMID 25149475
    2. Deduced amino acid sequence from human phosphoribosylpyrophosphate synthetase subunit II cDNA. Iizasa T, et al. Adv Exp Med Biol, 1989. PMID 2560337
    3. Molecular cloning and sequencing of human cDNA for phosphoribosyl pyrophosphate synthetase subunit II. Iizasa T, et al. FEBS Lett, 1989 Feb 13. PMID 2538352
    4. Role of PRPS2 as a prognostic and therapeutic target in osteosarcoma. Luo Y, et al. J Clin Pathol, 2021 May. PMID 33589531
    5. [Expression of phosphoribosyl pyrophosphate synthase 2 in human testis tissue]. Lei B, et al. Zhonghua Nan Ke Xue, 2020 Feb. PMID 33346415

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness.
      Title: PRPS1-mediated purine biosynthesis is critical for pluripotent stem cell survival and stemness.
    2. Role of PRPS2 as a prognostic and therapeutic target in osteosarcoma.
      Title: Role of PRPS2 as a prognostic and therapeutic target in osteosarcoma.
    3. Molecular mechanism of c-Myc and PRPS1/2 against thiopurine resistance in Burkitt's lymphoma.
      Title: Molecular mechanism of c-Myc and PRPS1/2 against thiopurine resistance in Burkitt's lymphoma.
    4. [Expression of phosphoribosyl pyrophosphate synthase 2 in human testis tissue].
      Title: [Expression of phosphoribosyl pyrophosphate synthase 2 in human testis tissue].
    5. PRPS2 promotes the migration and invasion of cultured colorectal cancer cells through regulating the activity of MMP-9 and the expression of E-cadherin.
      Title: Targeted Quantitative Kinome Analysis Identifies PRPS2 as a Promoter for Colorectal Cancer Metastasis.
    6. PRPS2 expression correlates with Sertoli-cell only syndrome and inhibits the apoptosis of TM4 Sertoli cells via the p53/Bcl-2/caspases signaling pathway.
      Title: PRPS2 Expression Correlates with Sertoli-Cell Only Syndrome and Inhibits the Apoptosis of TM4 Sertoli Cells.
    7. Meta-analysis of genome-wide association studies identifies a novel variant in PRPS2 on Xp22.3 as susceptibility locus for systemic lupus erythematosus.
      Title: Meta-analysis of GWAS on two Chinese populations followed by replication identifies novel genetic variants on the X chromosome associated with systemic lupus erythematosus.
    8. The expression of different genes encoding subunits of PRPS enzyme is affected by hypoxia in tumor glioma cells, but the effect of hypoxia is modified by suppression of endoplasmic reticulum stress signaling enzyme ERN1.
      Title: Expression of phosphoribosyl pyrophosphate synthetase genes in U87 glioma cells with ERN1 knockdown: effect of hypoxia and endoplasmic reticulum stress.
    9. Analysis of in vivo C-MYC interactions with TS, IMPDH2 and PRPS2 genes confirmed that they are direct C-MYC targets.
      Title: Direct role of nucleotide metabolism in C-MYC-dependent proliferation of melanoma cells.
    10. increased activity of this gene leads to gout
      Title: [Increased activity of PRPP synthetase].
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables magnesium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables ribose phosphate diphosphokinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ribose phosphate diphosphokinase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in 5-phosphoribose 1-diphosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in 5-phosphoribose 1-diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in nucleobase-containing compound metabolic process TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in pentose-phosphate shunt IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in purine nucleotide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribonucleoside monophosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ribose phosphate diphosphokinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ribose-phosphate pyrophosphokinase 2
    Names
    PPRibP synthetase
    PRS-II
    phosphoribosyl pyrophosphate synthase II
    ribose-phosphate diphosphokinase 2
    testicular secretory protein Li 41
    NP_001034180.1
    NP_002756.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016717.1 RefSeqGene

      Range
      5058..37868
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001039091.3 → NP_001034180.1  ribose-phosphate pyrophosphokinase 2 isoform 1

      See identical proteins and their annotated locations for NP_001034180.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC110875, BC119662, BU675363, DA478574
      Consensus CDS
      CCDS43918.1
      UniProtKB/TrEMBL
      A0A140VK41, B2R860
      Related
      ENSP00000381504.2, ENST00000398491.6
      Conserved Domains (1) summary
      COG0462
      Location:1 → 316
      PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]

    2. NM_002765.5 → NP_002756.1  ribose-phosphate pyrophosphokinase 2 isoform 2

      See identical proteins and their annotated locations for NP_002756.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      BC110875, BU675363, DA478574
      Consensus CDS
      CCDS14150.1
      UniProtKB/Swiss-Prot
      P11908, Q0VDH9, Q0VDI0, Q15245, Q2TAK7
      UniProtKB/TrEMBL
      B2R860
      Related
      ENSP00000370043.5, ENST00000380668.10
      Conserved Domains (1) summary
      COG0462
      Location:1 → 313
      PrsA; Phosphoribosylpyrophosphate synthetase [Nucleotide transport and metabolism, Amino acid transport and metabolism]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      12791412..12824222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      12372896..12405716
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P11908.2 GenPept UniProtKB/Swiss-Prot:P11908

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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