UPP2 (uridine phosphorylase 2)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 151531
• Gene name: Uridine phosphorylase 2
• Gene symbol: UPP2
• Synonyms (NCBI Gene): UDRPASE2, UP2, UPASE2
• Chromosome: 2
• Chromosome location: 2q24.1

miRNA Show/Hide all (40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052364	hsa-let-7a-5p	CLASH	23622248
MIRT539579	hsa-miR-4778-5p	PAR-CLIP	21572407
MIRT539578	hsa-miR-26a-1-3p	PAR-CLIP	21572407
MIRT539577	hsa-miR-26a-2-3p	PAR-CLIP	21572407
MIRT539576	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT539575	hsa-miR-134-3p	PAR-CLIP	21572407
MIRT539579	hsa-miR-4778-5p	PAR-CLIP	21572407
MIRT539578	hsa-miR-26a-1-3p	PAR-CLIP	21572407
MIRT539577	hsa-miR-26a-2-3p	PAR-CLIP	21572407
MIRT539576	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT539575	hsa-miR-134-3p	PAR-CLIP	21572407
MIRT539579	hsa-miR-4778-5p	PAR-CLIP	21572407
MIRT539578	hsa-miR-26a-1-3p	PAR-CLIP	21572407
MIRT539577	hsa-miR-26a-2-3p	PAR-CLIP	21572407
MIRT539576	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT539575	hsa-miR-134-3p	PAR-CLIP	21572407
MIRT539579	hsa-miR-4778-5p	PAR-CLIP	21572407
MIRT539578	hsa-miR-26a-1-3p	PAR-CLIP	21572407
MIRT539577	hsa-miR-26a-2-3p	PAR-CLIP	21572407
MIRT539576	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT539575	hsa-miR-134-3p	PAR-CLIP	21572407
MIRT1476432	hsa-miR-155	CLIP-seq
MIRT1476433	hsa-miR-515-3p	CLIP-seq
MIRT1476434	hsa-miR-519e	CLIP-seq
MIRT1476435	hsa-miR-550a	CLIP-seq
MIRT1476436	hsa-miR-136	CLIP-seq
MIRT1476437	hsa-miR-1913	CLIP-seq
MIRT1476438	hsa-miR-3074-5p	CLIP-seq
MIRT1476439	hsa-miR-3189-5p	CLIP-seq
MIRT1476440	hsa-miR-324-3p	CLIP-seq
MIRT1476441	hsa-miR-4722-3p	CLIP-seq
MIRT1476442	hsa-miR-4758-3p	CLIP-seq
MIRT1476433	hsa-miR-515-3p	CLIP-seq
MIRT1476434	hsa-miR-519e	CLIP-seq
MIRT1476435	hsa-miR-550a	CLIP-seq
MIRT1476433	hsa-miR-515-3p	CLIP-seq
MIRT1476434	hsa-miR-519e	CLIP-seq
MIRT1476435	hsa-miR-550a	CLIP-seq
MIRT2143536	hsa-miR-3163	CLIP-seq
MIRT2143537	hsa-miR-4517	CLIP-seq

Gene ontology (GO) Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004850	Function	Uridine phosphorylase activity	IBA
GO:0004850	Function	Uridine phosphorylase activity	IDA	12849978, 21855639
GO:0004850	Function	Uridine phosphorylase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 26871637, 32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	NAS	11278417
GO:0005829	Component	Cytosol	TAS
GO:0006218	Process	Uridine catabolic process	IBA
GO:0006218	Process	Uridine catabolic process	IDA	12849978, 21855639
GO:0006218	Process	Uridine catabolic process	IEA
GO:0006248	Process	CMP catabolic process	IEA
GO:0006249	Process	DCMP catabolic process	IDA	12849978
GO:0009116	Process	Nucleoside metabolic process	IEA
GO:0009116	Process	Nucleoside metabolic process	NAS	12849978
GO:0009166	Process	Nucleotide catabolic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016763	Function	Pentosyltransferase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	21855639, 25416956, 26871637, 29892012, 31515488, 32296183
GO:0044206	Process	UMP salvage	IEA
GO:0045098	Component	Type III intermediate filament	IDA	11278417
GO:0046050	Process	UMP catabolic process	IEA
GO:0046108	Process	Uridine metabolic process	NAS	11278417
GO:0047847	Function	Deoxyuridine phosphorylase activity	IDA	12849978
GO:0047847	Function	Deoxyuridine phosphorylase activity	IEA

Other IDs

• MIM: 617340
• HGNC: 23061
• e!Ensembl: ENSG00000007001

Protein

• UniProt ID: O95045
• Protein name: Uridine phosphorylase 2 (UPase 2) (UrdPase 2) (EC 2.4.2.3)
• Protein function: Catalyzes the reversible phosphorylytic cleavage of uridine to uracil and ribose-1-phosphate which can then be utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis (PubMed:12849978, PubMed:21855639)
• PDB: 2XRF , 3P0E , 3P0F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01048	PNP_UDP_1	60 → 310	Phosphorylase superfamily	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in kidney. {ECO:0000269|PubMed:12849978}.
• Sequence:

  MASVIPASNRSMRSDRNTYVGKRFVHVKNPYLDLMDEDILYHLDLGTKTHNLPAMFGDVK
  FVCVGGSPNRMKAFALFMHKELGFEEAEEDIKDICAGTDRYCMYKTGPVLAISHGMGIPS
  ISIMLHELIKLLHHARCCDVTIIRIGTSGGIGIAPGTVVITDIAVDSFFKPRFEQVILDN
  IVTRSTELDKELSEELFNCSKEIPNFPTLVGHTMCTYDFYEGQGRLDGALCSFSREKKLD
  YLKRAFKAGVRNIEMESTVFAAMCGLCGLKAAVVCVTLLDRLDCDQINLPHDVLVEYQQR
  PQLLISNFIRRRLGLCD

• Sequence length: 317

Pathways

KEGG Pathway	Reactome Pathway
Pyrimidine metabolism	Pyrimidine salvage
Drug metabolism - other enzymes	Pyrimidine catabolism
Metabolic pathways
Nucleotide metabolism

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	21151189	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL LEFT-SIDED HEART LESIONS	—	GWAS catalog	28468790	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	38469033	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38374256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (12)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorders	Autism Spectrum Disorder	CTD_human_DG	21151189		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26781567		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	21151189		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29021814		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29021814		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28448891		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	25897834		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10955799		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	31842742	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10955799		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	9515818		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	10404304, 9515818		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

C16orf95 2 shared diseasesCongenital left-sided heart lesions, Psychiatric disorders 2 shared evidence sourcesGWAS catalog (Congenital left-sided heart lesions), GWAS catalog (Psychiatric disorders) Related via 2 shared diseases including Congenital left-sided heart lesions, Psychiatric disorders — evidence mostly GWAS catalog. SYNPR 2 shared diseasesCongenital left-sided heart lesions, Psychiatric disorders 2 shared evidence sourcesGWAS catalog (Congenital left-sided heart lesions), GWAS catalog (Psychiatric disorders) Related via 2 shared diseases including Congenital left-sided heart lesions, Psychiatric disorders — evidence mostly GWAS catalog. UPP1 5 shared pathwaysPyrimidine metabolism, Drug metabolism - other enzymes, Nucleotide metabolism, Pyrimidine salvage, Pyrimidine catabolism Related via 5 shared pathways including Pyrimidine metabolism, Drug metabolism - other enzymes. HIVEP3 2 shared diseasesCongenital left-sided heart lesions, Psychiatric disorders 2 shared evidence sourcesGWAS catalog (Congenital left-sided heart lesions), GWAS catalog (Psychiatric disorders) Related via 2 shared diseases including Congenital left-sided heart lesions, Psychiatric disorders — evidence mostly GWAS catalog. TYMP 5 shared pathwaysPyrimidine metabolism, Drug metabolism - other enzymes, Nucleotide metabolism, Pyrimidine salvage, Pyrimidine catabolism Related via 5 shared pathways including Pyrimidine metabolism, Drug metabolism - other enzymes.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
C16orf95	2	["Congenital left-sided heart lesions","Psychiatric disorders"]	0	[]	2	["GWAS catalog (Congenital left-sided heart lesions)","GWAS catalog (Psychiatric disorders)"]
SYNPR	2	["Congenital left-sided heart lesions","Psychiatric disorders"]	0	[]	2	["GWAS catalog (Congenital left-sided heart lesions)","GWAS catalog (Psychiatric disorders)"]
UPP1	0	[]	5	["Pyrimidine metabolism","Drug metabolism - other enzymes","Nucleotide metabolism","Pyrimidine salvage","Pyrimidine catabolism"]	0	[]
HIVEP3	2	["Congenital left-sided heart lesions","Psychiatric disorders"]	0	[]	2	["GWAS catalog (Congenital left-sided heart lesions)","GWAS catalog (Psychiatric disorders)"]
TYMP	0	[]	5	["Pyrimidine metabolism","Drug metabolism - other enzymes","Nucleotide metabolism","Pyrimidine salvage","Pyrimidine catabolism"]	0	[]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 2 of 5 related genesC16orf95, SYNPR Breast cancer Linked via 2 of 5 related genesC16orf95, HIVEP3 Hypertension Linked via 2 of 5 related genesC16orf95, HIVEP3 Color vision deficiency Linked via 2 of 5 related genesSYNPR, HIVEP3 Cardiac embolism Linked via 1 of 5 related genesC16orf95

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	2	["C16orf95","SYNPR"]
Breast cancer	2	["C16orf95","HIVEP3"]
Hypertension	2	["C16orf95","HIVEP3"]
Color vision deficiency	2	["SYNPR","HIVEP3"]
Cardiac embolism	1	["C16orf95"]