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UPP2 uridine phosphorylase 2 [ Homo sapiens (human) ]

Gene ID: 151531, updated on 27-Nov-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, Nov 2024]
Expression
Restricted expression toward kidney (RPKM 10.8) See more
Orthologs
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Genomic context

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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

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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. Cloning and expression of human uridine phosphorylase. Watanabe S, et al. Biochem Biophys Res Commun, 1995 Nov 2. PMID 7488099
  4. Uridine phosphorylase association with vimentin. Intracellular distribution and localization. Russell RL, et al. J Biol Chem, 2001 Apr 20. PMID 11278417
  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)

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_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_017003484.2 → 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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