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    UPP2 uridine phosphorylase 2 [ Homo sapiens (human) ]

    Gene ID: 151531, updated on 5-Mar-2024

    Summary

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    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, Apr 2022]
    Expression
    Restricted expression toward kidney (RPKM 10.8) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    2q24.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (157995179..158136154)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (158452010..158592948)
    105.20220307 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Allowing for sex differences increases power in a GWAS of multiplex Autism families. Lu AT, et al. Mol Psychiatry, 2012 Feb. PMID 21151189
    2. Identification of a novel human uridine phosphorylase. Johansson M. Biochem Biophys Res Commun, 2003 Jul 18. PMID 12849978
    3. Uridine phosphorylase association with vimentin. Intracellular distribution and localization. Russell RL, et al. J Biol Chem, 2001 Apr 20. PMID 11278417
    4. Cloning and expression of human uridine phosphorylase. Watanabe S, et al. Biochem Biophys Res Commun, 1995 Nov 2. PMID 7488099
    5. A novel structural mechanism for redox regulation of uridine phosphorylase 2 activity. Roosild TP, et al. J Struct Biol, 2011 Nov. PMID 21855639, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. This study demonistrated that use joint test to identified that UPP2 association to Autism Spectrum Disorder.
      Title: Allowing for sex differences increases power in a GWAS of multiplex Autism families.
    2. A novel structural mechanism for redox regulation of uridine phosphorylase 2 activity
      Title: A novel structural mechanism for redox regulation of uridine phosphorylase 2 activity.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: 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.
    4. identification of the novel human uridine phosphorylase, UDPase 2, with broad substrate specificity; UPase-2 gene was mapped to chromosome 2q24.1 and the 2.2-kb mRNA was predominantly expressed in kidney
      Title: Identification of a novel human uridine phosphorylase.
    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

    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

    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

    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

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    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)

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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.

    mRNA and Protein(s)

    1. NM_001135098.2 → NP_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:86 → 371
      PNP_UDP_1; Phosphorylase superfamily

    2. NM_173355.4 → NP_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:29 → 314
      PNP_UDP_1; Phosphorylase superfamily

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_017003484.2 → XP_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_054340817.1 → XP_054196792.1  uridine phosphorylase 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O95045.1 GenPept UniProtKB/Swiss-Prot:O95045

    Gene LinkOut

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

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