Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7360
Gene name Gene Name - the full gene name approved by the HGNC.
UDP-glucose pyrophosphorylase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
UGP2
Synonyms (NCBI Gene) Gene synonyms aliases
DEE83, EIEE83, SVUGP2, UDPG, UDPGP, UDPGP2, UGP1, UGPP1, UGPP2, pHC379
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DEE83
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p15
Summary Summary of gene provided in NCBI Entrez Gene.
The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct p
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs768305634 A>G Pathogenic 5 prime UTR variant, missense variant, upstream transcript variant, coding sequence variant, genic upstream transcript variant, initiator codon variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000916 hsa-miR-15a-5p Microarray 18362358
MIRT000915 hsa-miR-16-5p Microarray 18362358
MIRT016507 hsa-miR-193b-3p Proteomics 21512034
MIRT028292 hsa-miR-32-5p Sequencing 20371350
MIRT044323 hsa-miR-106b-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003983 Function UTP:glucose-1-phosphate uridylyltransferase activity IBA 21873635
GO:0003983 Function UTP:glucose-1-phosphate uridylyltransferase activity IDA 31820119
GO:0003983 Function UTP:glucose-1-phosphate uridylyltransferase activity TAS 8354390
GO:0005515 Function Protein binding IPI 16189514, 17474147, 25416956, 32296183, 32814053
GO:0005634 Component Nucleus HDA 21630459
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
191760 12527 ENSG00000169764
Protein
UniProt ID Q16851
Protein name UTP--glucose-1-phosphate uridylyltransferase (EC 2.7.7.9) (UDP-glucose pyrophosphorylase) (UDPGP) (UGPase)
Protein function UTP--glucose-1-phosphate uridylyltransferase catalyzing the conversion of glucose-1-phosphate into UDP-glucose, a crucial precursor for the production of glycogen. {ECO:0000269|PubMed:31820119, ECO:0000269|PubMed:8354390, ECO:0000269|PubMed:8631
PDB 3R2W , 3R3I , 4R7P
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01704 UDPGP 55 473 UTP--glucose-1-phosphate uridylyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in various brain regions. Expressed in amygdala, anterior cingulate cortex, caudate, cerebellar hemisphere, cerebellum, cortex, frontal cortex, hippocampus, hypothalamus, nucleus accumbens, putamen, spinal cord and sub
Sequence
Sequence length 508
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Pentose and glucuronate interconversions
Galactose metabolism
Starch and sucrose metabolism
Amino sugar and nucleotide sugar metabolism
Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of cofactors
Biosynthesis of nucleotide sugars
  Formation of the active cofactor, UDP-glucuronate
Glycogen synthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
31820119
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
31820119
Unknown
Disease term Disease name Evidence References Source
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Brain Neoplasms Associate 29347944
Carcinoma Hepatocellular Associate 29371291, 32733617
Carcinoma Non Small Cell Lung Associate 37450292
Carcinoma Pancreatic Ductal Associate 29347944
Diabetes Mellitus Type 1 Associate 37174719
Hyperplasia Associate 29347944
Lymphatic Metastasis Associate 29347944
Neoplasm Metastasis Associate 29371291
Neoplasms Associate 21999571, 32733617
Pancreatic Diseases Associate 29347944