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UPP2 uridine phosphorylase 2 [ Homo sapiens (human) ]

Gene ID: 151531, updated on 5-Aug-2022

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

See UPP2 in Genome Data Viewer
Location:
2q24.1
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (157995179..158136154)
110 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 CCDC148 antisense RNA 1 Neighboring gene coiled-coil domain containing 148 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

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

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
PubMed 
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
PubMed 
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
PubMed 
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

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_001135098.2NP_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
    Related
    ENSP00000005756.5, ENST00000005756.5
    Conserved Domains (1) summary
    cl00303
    Location:29314
    PNP_UDP_1; Phosphorylase superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)