Entity Details

Primary name UGP2
Entity type gene
Source Source Link

Details

PrimaryID7360
RefseqGene
SymbolUGP2
NameUDP-glucose pyrophosphorylase 2
Chromosome2
Location2p15
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1995-12-18
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsUGPA_HUMAN

GO terms

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GOName
GO:0003983 UTP:glucose-1-phosphate uridylyltransferase activity
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005977 glycogen metabolic process
GO:0005978 glycogen biosynthetic process
GO:0006011 UDP-glucose metabolic process
GO:0006065 UDP-glucuronate biosynthetic process
GO:0007420 brain development
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
618744 OMIMDevelopmental and epileptic encephalopathy 83 (DEE83)A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE83 is an autosomal recessive form characterized by onset of frequent, intractable seizures in the first days to months of life. Affected individuals have profound developmental delay with no motor or language skill acquisition, and poor or absent visual tracking. Many patients die in the first years of life. The disease is caused by variants affecting the gene represented in this entry. A recurrent, pathogenic variant affecting the translation initiation codon of isoform 2 has been found in multiple DEE83 families. The variant results in the absence of isoform 2 and leads to reduced levels of functional UGP2 enzyme in neural stem cells. The absence of isoform 2 is compensated by an increased abundance of a functional isoform 1, carrying variant p.Met12Val, which may explain the survival of the patients. A complete absence of functional UGP2 in all cells would be embryonic lethal.

Interactions

66 interactions

InteractorPartnerSourcesPublicationsLink
UGP2ARIH2BioGRID, HPRD, IntAct16189514 25416956 32296183 details
UGP2UGP2BioGRID, HPRD, IntAct16169070 16189514 16501559 21988832 25416956 32296183 details
UGP2PCBP1BioGRID, HPRD, IntAct16713569 details
UGP2GRB2IntAct17474147 details
UGP2CBSLIntAct21988832 details
UGP2CBSBioGRID, IntAct21988832 details
UGP2TTNBioGRID, IntAct23414517 details
UGP2GLRX3BioGRID, IntAct25416956 details
UGP2PLEKHF2BioGRID, IntAct32296183 details
UGP2KLF11IntAct32814053 details
UGP2ABCA1BioGRID, HPRD12054535 details
UGP2PUF60BioGRID, IntAct17353931 22863883 details
UGP2GTF2E2BioGRID, IntAct28514442 details
UGP2SUN2BioGRID, IntAct28514442 details
UGP2DCAF15BioGRID, IntAct26186194 28514442 details
UGP2SNX24BioGRID, IntAct26186194 28514442 details
UGP2GPSM1BioGRID, IntAct26186194 28514442 details
UGP2HDAC7BioGRID, IntAct26186194 28514442 details
UGP2L1TD1MINT25702638 details
UGP2APPBioGRID, UniProt25959826 details
UGP2CSAG3MINT32761762 details
UGP2CDK2BioGRID21319273 details
UGP2DNPEPBioGRID22939629 details
UGP2ISG15BioGRID22939629 details
UGP2MROH2BBioGRID22939629 details
UGP2LYNBioGRID23503679 details
UGP2CUL1BioGRID22863883 details
UGP2FARSBBioGRID22863883 details
UGP2GARTBioGRID22863883 details
UGP2HIRIP3BioGRID22863883 details
UGP2HSPH1BioGRID22863883 details
UGP2ILKBioGRID22863883 details
UGP2NUDCBioGRID22863883 details
UGP2NUSAP1BioGRID22863883 details
UGP2PACSIN2BioGRID22863883 details
UGP2PAPOLABioGRID22863883 details
UGP2PARVABioGRID22863883 details
UGP2PLOD2BioGRID22863883 details
UGP2PPM1GBioGRID22863883 details
UGP2PPP2R5CBioGRID22863883 details
UGP2RANBP3BioGRID22863883 details
UGP2SETBioGRID22863883 details
UGP2TARS1BioGRID22863883 details
UGP2RO60BioGRID22863883 details
UGP2BUB1BBioGRID22863883 details
UGP2CARM1BioGRID22863883 details
UGP2CC2D1BBioGRID22863883 details
UGP2CSDE1BioGRID22863883 details
UGP2FAF1BioGRID22863883 details
UGP2PTPN12BioGRID22863883 details
UGP2USP15BioGRID22863883 details
UGP2VASNBioGRID22863883 details
UGP2ZYXBioGRID22863883 details
UGP2ALDH16A1BioGRID26344197 details
UGP2GK2BioGRID26344197 details
UGP2HSPE1BioGRID26344197 details
UGP2KHKBioGRID26344197 details
UGP2GCKBioGRID26344197 details
UGP2PAICSBioGRID26344197 details
UGP2NTRK1BioGRID25921289 details
UGP2MCM2BioGRID25963833 details
UGP2UBCBioGRID27182664 details
UGP2PLEKHA4BioGRID31091453 details
UGP2UNKBioGRID25737280 details
UGP2APEX1BioGRID28986522 details
UGP2HNRNPH1BioGRID26760575 details