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Aliases for PRPSAP2 Gene

Aliases for PRPSAP2 Gene

  • Phosphoribosyl Pyrophosphate Synthetase Associated Protein 2 2 3 5
  • 41 KDa Phosphoribosypyrophosphate Synthetase-Associated Protein 3 4
  • PRPP Synthase-Associated Protein 2 3 4
  • PAP41 3 4
  • Phosphoribosyl Pyrophosphate Synthetase-Associated Protein 2 2
  • Phosphoribosyl Pyrophosphate Synthase-Associated Protein 2 3

External Ids for PRPSAP2 Gene

Previous GeneCards Identifiers for PRPSAP2 Gene

  • GC17P019014
  • GC17P020422
  • GC17P018686
  • GC17P018962
  • GC17P018702
  • GC17P018334
  • GC17P018842

Summaries for PRPSAP2 Gene

Entrez Gene Summary for PRPSAP2 Gene

  • This gene encodes a protein that associates with the enzyme phosphoribosylpyrophosphate synthetase (PRS). PRS catalyzes the formation of phosphoribosylpyrophosphate which is a substrate for synthesis of purine and pyrimidine nucleotides, histidine, tryptophan and NAD. PRS exists as a complex with two catalytic subunits and two associated subunits. This gene encodes a non-catalytic associated subunit of PRS. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]

GeneCards Summary for PRPSAP2 Gene

PRPSAP2 (Phosphoribosyl Pyrophosphate Synthetase Associated Protein 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and ribose phosphate diphosphokinase activity. An important paralog of this gene is PRPSAP1.

UniProtKB/Swiss-Prot for PRPSAP2 Gene

  • Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.

Gene Wiki entry for PRPSAP2 Gene

Additional gene information for PRPSAP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPSAP2 Gene

Genomics for PRPSAP2 Gene

GeneHancer (GH) Regulatory Elements for PRPSAP2 Gene

Promoters and enhancers for PRPSAP2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J018857 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 688 +19.3 19285 3.8 HDGF PKNOX1 MLX ARID4B SIN3A IRF4 YY1 ETS1 ZNF121 GLIS2 PRPSAP2 TVP23B FOXO3B ENSG00000264273 RN7SL627P LOC101929141
GH17J018855 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 686.5 +16.2 16190 1.6 HDGF SMAD1 ARID4B SIN3A YY1 POLR2B ZNF143 FOS SP3 NFYC PRPSAP2 ENSG00000264273 RN7SL627P LOC101929141
GH17J018899 Enhancer 1.2 FANTOM5 Ensembl ENCODE 34.1 +60.7 60743 3.1 HDGF PKNOX1 RB1 BATF IRF4 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 PRPSAP2 TVP23B ENSG00000212618 GC17P018891 LOC100419620
GH17J018866 Enhancer 0.8 ENCODE 36.3 +27.9 27908 3 ELF3 FOXA2 DMAP1 RARA YY1 EGR1 RUNX3 HMG20B ZNF362 RXRA PRPSAP2 TVP23B PIR39879 GC17P018890
GH17J018181 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.6 -655.0 -655005 8 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 CBX5 ALKBH5 ENSG00000266677 PIR34966 SMCR8 MYO15A MIEF2 NOS2P2 FOXO3B SHMT1 TBC1D3P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRPSAP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRPSAP2 gene promoter:
  • FOXO4
  • FAC1
  • MZF-1
  • FOXF2
  • POU3F2 (N-Oct-5b)
  • POU3F2 (N-Oct-5a)
  • POU3F2
  • FOXD1
  • POU2F1a

Genomic Locations for PRPSAP2 Gene

Genomic Locations for PRPSAP2 Gene
91,203 bases
Plus strand
91,184 bases
Plus strand

Genomic View for PRPSAP2 Gene

Genes around PRPSAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPSAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPSAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPSAP2 Gene

Proteins for PRPSAP2 Gene

  • Protein details for PRPSAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Phosphoribosyl pyrophosphate synthase-associated protein 2
    Protein Accession:
    Secondary Accessions:
    • B4E1M8
    • B4E329
    • B7ZKZ1
    • E7EMY2
    • Q6IAS2

    Protein attributes for PRPSAP2 Gene

    369 amino acids
    Molecular mass:
    40926 Da
    Quaternary structure:
    • Binds to PRPS1 and PRPS2.

    Three dimensional structures from OCA and Proteopedia for PRPSAP2 Gene

    Alternative splice isoforms for PRPSAP2 Gene


neXtProt entry for PRPSAP2 Gene

Post-translational modifications for PRPSAP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PRPSAP2 Gene

Domains & Families for PRPSAP2 Gene

Gene Families for PRPSAP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PRPSAP2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ribose-phosphate pyrophosphokinase family.
  • Belongs to the ribose-phosphate pyrophosphokinase family.
genes like me logo Genes that share domains with PRPSAP2: view

Function for PRPSAP2 Gene

Molecular function for PRPSAP2 Gene

UniProtKB/Swiss-Prot Function:
Seems to play a negative regulatory role in 5-phosphoribose 1-diphosphate synthesis.
GENATLAS Biochemistry:
phosphoribosylpyrophosphate synthetase-associated protein,41kDa

Phenotypes From GWAS Catalog for PRPSAP2 Gene

Gene Ontology (GO) - Molecular Function for PRPSAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000287 magnesium ion binding IEA --
GO:0004749 ribose phosphate diphosphokinase activity IEA --
GO:0004857 enzyme inhibitor activity TAS 9545573
GO:0005515 protein binding IPI 26496610
genes like me logo Genes that share ontologies with PRPSAP2: view
genes like me logo Genes that share phenotypes with PRPSAP2: view

Animal Models for PRPSAP2 Gene

MGI Knock Outs for PRPSAP2:
  • Prpsap2 Prpsap2<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPSAP2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for PRPSAP2 Gene

Localization for PRPSAP2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRPSAP2 gene
Compartment Confidence
cytosol 4
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PRPSAP2 Gene

Pathways & Interactions for PRPSAP2 Gene

SuperPathways for PRPSAP2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRPSAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006139 nucleobase-containing compound metabolic process TAS 9545573
GO:0009116 nucleoside metabolic process IEA --
GO:0009165 nucleotide biosynthetic process IEA --
GO:0043086 negative regulation of catalytic activity IEA --
GO:0060348 bone development IEA --
genes like me logo Genes that share ontologies with PRPSAP2: view

No data available for Pathways by source and SIGNOR curated interactions for PRPSAP2 Gene

Drugs & Compounds for PRPSAP2 Gene

No Compound Related Data Available

Transcripts for PRPSAP2 Gene

Unigene Clusters for PRPSAP2 Gene

Phosphoribosyl pyrophosphate synthetase-associated protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPSAP2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRPSAP2 Gene

No ASD Table

Relevant External Links for PRPSAP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRPSAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRPSAP2 Gene

Protein differential expression in normal tissues from HIPED for PRPSAP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PRPSAP2 Gene

Protein tissue co-expression partners for PRPSAP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRPSAP2 Gene:


SOURCE GeneReport for Unigene cluster for PRPSAP2 Gene:


mRNA Expression by UniProt/SwissProt for PRPSAP2 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PRPSAP2 Gene

  • Nervous system(4.8)
  • Liver(4.3)
genes like me logo Genes that share expression patterns with PRPSAP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PRPSAP2 Gene

Orthologs for PRPSAP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PRPSAP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PRPSAP2 34 33
  • 99.55 (n)
(Monodelphis domestica)
Mammalia PRPSAP2 34
  • 96 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 96 (a)
(Canis familiaris)
Mammalia PRPSAP2 34 33
  • 91.78 (n)
(Rattus norvegicus)
Mammalia Prpsap2 33
  • 91.78 (n)
(Mus musculus)
Mammalia Prpsap2 16 34 33
  • 90.79 (n)
(Bos Taurus)
Mammalia PRPSAP2 34 33
  • 89.25 (n)
(Gallus gallus)
Aves PRPSAP2 34 33
  • 83.56 (n)
(Anolis carolinensis)
Reptilia PRPSAP2 34
  • 89 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia prpsap2 33
  • 79.93 (n)
(Danio rerio)
Actinopterygii prpsap2 34 33
  • 78.06 (n)
Dr.20729 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000954 33
  • 65.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2246 34 35 33
  • 63.93 (n)
(Caenorhabditis elegans)
Secernentea CELE_W04G3.5 33
  • 62 (n)
W04G3.5 34 35
  • 60 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRS3 34
  • 43 (a)
PRS2 34
  • 43 (a)
PRS4 34
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 66 (a)
Cin.2032 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2032 33
Species where no ortholog for PRPSAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PRPSAP2 Gene

Gene Tree for PRPSAP2 (if available)
Gene Tree for PRPSAP2 (if available)
Evolutionary constrained regions (ECRs) for PRPSAP2: view image

Paralogs for PRPSAP2 Gene

Paralogs for PRPSAP2 Gene

(5) SIMAP similar genes for PRPSAP2 Gene using alignment to 16 proteins:

  • B4E329_HUMAN
  • C9K0K7_HUMAN
  • E7EW35_HUMAN
  • I3L0S1_HUMAN
  • I3L164_HUMAN
  • I3L1T1_HUMAN
  • I3L275_HUMAN
  • I3L2J4_HUMAN
  • I3L331_HUMAN
  • I3L3B8_HUMAN
  • I3L4G9_HUMAN
genes like me logo Genes that share paralogs with PRPSAP2: view

Variants for PRPSAP2 Gene

Sequence variations from dbSNP and Humsavar for PRPSAP2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000061135 -- 18,923,355(+) C/T intron_variant
rs1000072113 -- 18,930,853(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000117383 -- 18,863,691(+) C/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000127493 -- 18,897,450(+) GTGGTG/GTG intron_variant
rs1000173733 -- 18,859,505(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PRPSAP2 Gene

Variant ID Type Subtype PubMed ID
dgv1427n106 CNV deletion 24896259
dgv5491n54 CNV gain 21841781
dgv565e214 CNV gain 21293372
esv1041467 CNV deletion 17803354
esv2279916 CNV deletion 18987734
esv2533862 CNV deletion 19546169
esv2671076 CNV deletion 23128226
esv2672748 CNV deletion 23128226
esv2673960 CNV deletion 23128226
esv2677608 CNV deletion 23128226
esv2758678 CNV gain+loss 17122850
esv3160456 CNV deletion 24192839
esv33572 CNV gain 17666407
esv3554226 CNV deletion 23714750
esv3640167 CNV loss 21293372
esv3640168 CNV loss 21293372
nsv1055999 CNV gain 25217958
nsv1057803 CNV loss 25217958
nsv112111 CNV deletion 16902084
nsv1134606 CNV deletion 24896259
nsv1153683 CNV deletion 26484159
nsv2000 CNV insertion 18451855
nsv428336 CNV gain+loss 18775914
nsv457699 CNV gain 19166990
nsv512479 CNV loss 21212237
nsv523721 CNV gain 19592680
nsv525221 CNV gain 19592680
nsv574552 CNV gain 21841781
nsv833390 CNV loss 17160897
nsv833391 CNV loss 17160897
nsv9504 CNV gain+loss 18304495
nsv955392 CNV deletion 24416366
nsv978382 CNV duplication 23825009

Variation tolerance for PRPSAP2 Gene

Residual Variation Intolerance Score: 29.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.36; 8.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRPSAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPSAP2 Gene

Disorders for PRPSAP2 Gene

Additional Disease Information for PRPSAP2

No disorders were found for PRPSAP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PRPSAP2 Gene

Publications for PRPSAP2 Gene

  1. Assignment of the human phosphoribosylpyrophosphate synthetase-associated protein 41 gene (PRPSAP2) to 17p11.2-p12. (PMID: 9806849) Katashima R … Itakura M (Genomics 1998) 2 3 22 58
  2. Molecular cloning of a human cDNA for the 41-kDa phosphoribosylpyrophosphate synthetase-associated protein. (PMID: 9545573) Katashima R … Itakura M (Biochimica et biophysica acta 1998) 3 4 22 58
  3. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for PRPSAP2 Gene

Sources for PRPSAP2 Gene

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