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    UPP2 uridine phosphorylase 2 [ Homo sapiens (human) ]

    Gene ID: 151531, updated on 27-Nov-2024

    Summary

    Official Symbol
    UPP2provided by HGNC
    Official Full Name
    uridine phosphorylase 2provided by HGNC
    Primary source
    HGNC:HGNC:23061
    See related
    Ensembl:ENSG00000007001 MIM:617340; AllianceGenome:HGNC:23061
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    UP2; UPASE2; UDRPASE2
    Summary
    Enables deoxyuridine phosphorylase activity; identical protein binding activity; and uridine phosphorylase activity. Involved in dCMP catabolic process and uridine catabolic process. Located in type III intermediate filament. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward kidney (RPKM 10.8) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See UPP2 in Genome Data Viewer
    Location:
    2q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (157995179..158136154)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (158452010..158592948)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (158851691..158992666)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MTA3 pseudogene 1 Neighboring gene RNA, U6 small nuclear 932, pseudogene Neighboring gene PTP4A1 pseudogene 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:158969881-158971080 Neighboring gene CCDC148 antisense RNA 1 Neighboring gene MPRA-validated peak3909 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16679 Neighboring gene MPRA-validated peak3910 silencer Neighboring gene coiled-coil domain containing 148 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:159079757-159080256 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:159251719-159251872 Neighboring gene HNRNPDL pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: 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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association reveals genetic effects on human Aβ42 and τ protein levels in cerebrospinal fluids: a case control study.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • AC005539.4

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables deoxyuridine phosphorylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables uridine phosphorylase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables uridine phosphorylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in UMP salvage IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dCMP catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in nucleoside metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in uridine catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in uridine catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in uridine metabolic process NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in type III intermediate filament IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    uridine phosphorylase 2
    Names
    UPase 2
    liver-specific uridine phosphorylase
    urdPase 2
    NP_001128570.1
    NP_775491.1
    XP_016858973.1
    XP_054196792.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    mRNA and Protein(s)

    1. NM_001135098.2NP_001128570.1  uridine phosphorylase 2 isoform b

      See identical proteins and their annotated locations for NP_001128570.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and includes two additional exons in the 5' coding region, compared to variant 1. The resulting isoform (b) is longer at the N-terminus, compared to isoform a.
      Source sequence(s)
      AC005539, AW771260, BC033529
      Consensus CDS
      CCDS46435.1
      UniProtKB/Swiss-Prot
      O95045
      Related
      ENSP00000474090.1, ENST00000605860.5
      Conserved Domains (1) summary
      cl00303
      Location:86371
      PNP_UDP_1; Phosphorylase superfamily
    2. NM_173355.4NP_775491.1  uridine phosphorylase 2 isoform a

      See identical proteins and their annotated locations for NP_775491.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript but encodes the shorter isoform (a).
      Source sequence(s)
      AC005539
      Consensus CDS
      CCDS2207.1
      UniProtKB/Swiss-Prot
      B3KV87, O95045
      UniProtKB/TrEMBL
      A0A0S2Z634, A0A0S2Z698
      Related
      ENSP00000005756.5, ENST00000005756.5
      Conserved Domains (1) summary
      cl00303
      Location:29314
      PNP_UDP_1; Phosphorylase superfamily

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      157995179..158136154
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017003484.2XP_016858973.1  uridine phosphorylase 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      158452010..158592948
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340817.1XP_054196792.1  uridine phosphorylase 2 isoform X1