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

Gene ID: 5634, updated on 14-Nov-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. [Expression of phosphoribosyl pyrophosphate synthase 2 in human testis tissue]. Lei B, et al. Zhonghua Nan Ke Xue, 2020 Feb. PMID 33346415
  3. Role of PRPS2 as a prognostic and therapeutic target in osteosarcoma. Luo Y, et al. J Clin Pathol, 2021 May. PMID 33589531
  4. Deduced amino acid sequence from human phosphoribosylpyrophosphate synthetase subunit II cDNA. Iizasa T, et al. Adv Exp Med Biol, 1989. PMID 2560337
  5. Molecular cloning and sequencing of human cDNA for phosphoribosyl pyrophosphate synthetase subunit II. Iizasa T, et al. FEBS Lett, 1989 Feb 13. PMID 2538352

See all (94) 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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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)

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 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
  

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

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