Aliases for UPP2 Gene

Aliases for UPP2 Gene

  • Uridine Phosphorylase 2 2 3 4 5
  • UrdPase 2 3 4
  • UPase 2 3 4
  • Liver-Specific Uridine Phosphorylase 3
  • EC 2.4.2.3 4
  • UDRPASE2 3
  • UPASE2 3
  • UP2 3

External Ids for UPP2 Gene

Previous GeneCards Identifiers for UPP2 Gene

  • GC02P158815
  • GC02P159054
  • GC02P158677
  • GC02P158559
  • GC02P150739
  • GC02P158736

Summaries for UPP2 Gene

GeneCards Summary for UPP2 Gene

UPP2 (Uridine Phosphorylase 2) is a Protein Coding gene. Among its related pathways are Metabolism of nucleotides and Fluoropyrimidine Activity. Gene Ontology (GO) annotations related to this gene include uridine phosphorylase activity. An important paralog of this gene is UPP1.

UniProtKB/Swiss-Prot Summary for UPP2 Gene

  • Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Shows substrate specificity and accept uridine, deoxyuridine, and thymidine as well as the two pyrimidine nucleoside analogs 5-fluorouridine and 5-fluoro-2(')-deoxyuridine as substrates.

Additional gene information for UPP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UPP2 Gene

Genomics for UPP2 Gene

GeneHancer (GH) Regulatory Elements for UPP2 Gene

Promoters and enhancers for UPP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J157874 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -1.0 -1001 3.8 HNRNPK ZNF217 EP300 CTCF NRF1 POLR2G SP1 FOS ZFX ZIC2 ACVR1 ENSG00000270557 LOC105373714 UPP2 ENSG00000234584
GH02J158101 Promoter 0.8 EPDnew 500.1 +225.2 225155 0.1 KDM6A ZKSCAN8 FOXA2 SAP130 MIER3 CREM ZGPAT RAD21 RXRA RARA UPP2 UPP2-IT1 lnc-PKP4-6 PTP4A1P1
GH02J158411 Enhancer 0.8 FANTOM5 Ensembl ENCODE 2.5 +536.9 536889 3.6 TEAD1 GATA3 RCOR1 RBM39 NANOG CEBPB CCDC148 UPP2 HNRNPDLP2 lnc-PKP4-4 lnc-ACVR1-4 piR-54765-004
GH02J157951 Enhancer 0.2 FANTOM5 4.7 +74.9 74908 0.3 UPP2 lnc-ACVR1-2 ENSG00000228937 ENSG00000271320
GH02J157880 Enhancer 0.6 Ensembl 0.7 +4.2 4199 1 FOXA2 FOS ZBTB33 JUND FOSL2 RAD21 RXRA MAX HNF4A REST ENSG00000270557 LOC105373714 UPP2 RF00026-588 RNU6-436P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UPP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UPP2

Top Transcription factor binding sites by QIAGEN in the UPP2 gene promoter:
  • AML1a
  • FOXF2
  • FOXJ2
  • FOXJ2 (long isoform)
  • GATA-1
  • Hlf
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1b

Genomic Locations for UPP2 Gene

Genomic Locations for UPP2 Gene
chr2:157,876,702-158,136,154
(GRCh38/hg38)
Size:
259,453 bases
Orientation:
Plus strand
chr2:158,733,214-158,992,666
(GRCh37/hg19)
Size:
259,453 bases
Orientation:
Plus strand

Genomic View for UPP2 Gene

Genes around UPP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UPP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UPP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UPP2 Gene

Proteins for UPP2 Gene

  • Protein details for UPP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95045-UPP2_HUMAN
    Recommended name:
    Uridine phosphorylase 2
    Protein Accession:
    O95045
    Secondary Accessions:
    • B3KV87

    Protein attributes for UPP2 Gene

    Size:
    317 amino acids
    Molecular mass:
    35527 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH33529.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for UPP2 Gene

    Alternative splice isoforms for UPP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for UPP2 Gene

Post-translational modifications for UPP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for UPP2 Gene

No data available for DME Specific Peptides for UPP2 Gene

Domains & Families for UPP2 Gene

Gene Families for UPP2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UPP2 Gene

Blocks:
  • Purine and other phosphorylases, family 1
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UPP2 Gene

GenScript: Design optimal peptide antigens:
  • Uridine phosphorylase 2 (UPP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95045

UniProtKB/Swiss-Prot:

UPP2_HUMAN :
  • Belongs to the PNP/UDP phosphorylase family.
Family:
  • Belongs to the PNP/UDP phosphorylase family.
genes like me logo Genes that share domains with UPP2: view

Function for UPP2 Gene

Molecular function for UPP2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the reversible phosphorylytic cleavage of uridine and deoxyuridine to uracil and ribose- or deoxyribose-1-phosphate. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis. Shows substrate specificity and accept uridine, deoxyuridine, and thymidine as well as the two pyrimidine nucleoside analogs 5-fluorouridine and 5-fluoro-2(')-deoxyuridine as substrates.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=phosphate + uridine = alpha-D-ribose 1-phosphate + uracil; Xref=Rhea:RHEA:24388, ChEBI:CHEBI:16704, ChEBI:CHEBI:17568, ChEBI:CHEBI:43474, ChEBI:CHEBI:57720; EC=2.4.2.3;.
UniProtKB/Swiss-Prot EnzymeRegulation:
A conditional disulfide bridge can form within the protein that dislocates a critical phosphate-coordinating arginine Arg-100 away from the active site, disabling the enzyme.

Enzyme Numbers (IUBMB) for UPP2 Gene

Phenotypes From GWAS Catalog for UPP2 Gene

Gene Ontology (GO) - Molecular Function for UPP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004850 uridine phosphorylase activity IDA 12849978
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0016763 transferase activity, transferring pentosyl groups IEA --
genes like me logo Genes that share ontologies with UPP2: view
genes like me logo Genes that share phenotypes with UPP2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for UPP2

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for UPP2 Gene

Localization for UPP2 Gene

Subcellular locations from

COMPARTMENTS
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 UPP2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
mitochondrion 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1
plasma membrane 0

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for UPP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0045098 type III intermediate filament IDA 11278417
genes like me logo Genes that share ontologies with UPP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for UPP2 Gene

Pathways & Interactions for UPP2 Gene

genes like me logo Genes that share pathways with UPP2: view

UniProtKB/Swiss-Prot O95045-UPP2_HUMAN

  • Pathway: Pyrimidine metabolism; UMP biosynthesis via salvage pathway; uracil from uridine (phosphorylase route): step 1/1.

Gene Ontology (GO) - Biological Process for UPP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009116 nucleoside metabolic process NAS 12849978
GO:0009166 nucleotide catabolic process IEA --
GO:0043097 pyrimidine nucleoside salvage TAS --
GO:0044206 UMP salvage IEA --
GO:0046108 uridine metabolic process NAS 11278417
genes like me logo Genes that share ontologies with UPP2: view

No data available for SIGNOR curated interactions for UPP2 Gene

Drugs & Compounds for UPP2 Gene

(5) Drugs for UPP2 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fluorouracil Approved Pharma Enzyme, substrate RNA processing inhibitor and thymidylate synthase inhibitor 2258
Phosphoric acid Approved Pharma 0
5-fluorouridine Experimental Pharma 0
Uracil Experimental, Investigational Pharma 0
Uridine Experimental, Investigational Pharma 0

(1) Additional Compounds for UPP2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ribose 1-phosphate
  • 1-O-phosphono-alpha-D-Ribofuranose
  • 1-phospho-alpha-D-Ribofuranose
  • D-Ribose 1-phosphate
  • 1-O-phosphono-a-D-Ribofuranose
  • 1-O-phosphono-α-D-ribofuranose
14075-00-4
genes like me logo Genes that share compounds with UPP2: view

Transcripts for UPP2 Gene

mRNA/cDNA for UPP2 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for UPP2 Gene

No ASD Table

Relevant External Links for UPP2 Gene

GeneLoc Exon Structure for
UPP2

Expression for UPP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UPP2 Gene

mRNA differential expression in normal tissues according to GTEx for UPP2 Gene

This gene is overexpressed in Kidney - Cortex (x11.8) and Liver (x8.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UPP2

SOURCE GeneReport for Unigene cluster for UPP2 Gene:

Hs.128427

mRNA Expression by UniProt/SwissProt for UPP2 Gene:

O95045-UPP2_HUMAN
Tissue specificity: Predominantly expressed in kidney.

Evidence on tissue expression from TISSUES for UPP2 Gene

  • Kidney(4.4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with UPP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for UPP2 Gene

Orthologs for UPP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for UPP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UPP2 31 30
  • 99.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UPP2 31 30
  • 88.96 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Upp2 17 31 30
  • 86.12 (n)
rat
(Rattus norvegicus)
Mammalia Upp2 30
  • 84.56 (n)
oppossum
(Monodelphis domestica)
Mammalia UPP2 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves UPP2 31 30
  • 68.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UPP2 31
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia upp2 30
  • 68.68 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2084 30
zebrafish
(Danio rerio)
Actinopterygii upp2 31 30
  • 67.11 (n)
OneToOne
zgc55883 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000188 30
  • 55.29 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6330 31 30
  • 54.33 (n)
ManyToMany
CG17224 31
  • 41 (a)
ManyToMany
CG3788 31
  • 36 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea upp-1 31 30
  • 52.45 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
ManyToMany
CSA.9869 31
  • 40 (a)
ManyToMany
CSA.9473 31
  • 37 (a)
ManyToMany
Species where no ortholog for UPP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 UPP2 Gene

ENSEMBL:
Gene Tree for UPP2 (if available)
TreeFam:
Gene Tree for UPP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UPP2: view image

Paralogs for UPP2 Gene

Paralogs for UPP2 Gene

(1) SIMAP similar genes for UPP2 Gene using alignment to 1 proteins:

  • UPP2_HUMAN
genes like me logo Genes that share paralogs with UPP2: view

Variants for UPP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UPP2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
778012 Benign: not provided 158,115,152(+) A/C MISSENSE_VARIANT
783344 Benign: not provided 158,121,416(+) A/C SYNONYMOUS_VARIANT
rs6710480 - p.Arg10Ser
rs7561584 - p.Met78Leu

Additional dbSNP identifiers (rs#s) for UPP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for UPP2 Gene

Variant ID Type Subtype PubMed ID
esv2659902 CNV deletion 23128226
esv2673444 CNV deletion 23128226
esv3560414 CNV deletion 23714750
esv3584118 CNV loss 25503493
esv3593066 CNV loss 21293372
esv3593067 CNV loss 21293372
esv3593068 CNV loss 21293372
esv3593069 CNV loss 21293372
nsv2991 CNV insertion 18451855
nsv477802 CNV novel sequence insertion 20440878
nsv517458 CNV loss 19592680
nsv519147 CNV loss 19592680
nsv834433 CNV gain 17160897
nsv979365 CNV deletion 23825009

Variation tolerance for UPP2 Gene

Residual Variation Intolerance Score: 67.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.62; 78.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UPP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
UPP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UPP2 Gene

Disorders for UPP2 Gene

Additional Disease Information for UPP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for UPP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UPP2 Gene

Publications for UPP2 Gene

  1. Identification of a novel human uridine phosphorylase. (PMID: 12849978) Johansson M (Biochemical and biophysical research communications 2003) 2 3 4 23 54
  2. A novel structural mechanism for redox regulation of uridine phosphorylase 2 activity. (PMID: 21855639) Roosild TP … Pizzorno G (Journal of structural biology 2011) 3 4 54
  3. Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study. (PMID: 20932310) Han MR … Alzheimer's Disease Neuroimaging Initiative (BMC neurology 2010) 3 41 54
  4. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E … IMGSAC (Molecular psychiatry 2010) 3 41 54
  5. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54

Products for UPP2 Gene

Sources for UPP2 Gene