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 precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The euk... See more...

Aliases for UGP2 Gene

Aliases for UGP2 Gene

  • UDP-Glucose Pyrophosphorylase 2 2 3 5
  • UTP--Glucose-1-Phosphate Uridylyltransferase 2 3 4
  • UDP-Glucose Pyrophosphorylase 1 2 3
  • EC 4 51
  • SVUGP2 2 3
  • UDPGP 3 4
  • UGPP1 2 3
  • UGP1 3 4
  • UTP--Glucose-1-Phosphate Uridylyltransferase 2 3
  • Uridyl Diphosphate Glucose Pyrophosphorylase-1 3
  • Uridyl Diphosphate Glucose Pyrophosphorylase 2 3
  • Testis Tissue Sperm-Binding Protein Li 58p 3
  • UTP-Glucose-1-Phosphate Uridyltransferase 3
  • UDP-Glucose Pyrophosphorylase 4
  • UDP-Glucose Diphosphorylase 3
  • UGPase 2 3
  • EIEE83 3
  • UDPGP2 3
  • PHC379 3
  • UGPase 4
  • DEE83 3
  • UGPP2 3
  • UDPG 3
  • UGP2 5

External Ids for UGP2 Gene

Previous HGNC Symbols for UGP2 Gene

  • UGP1

Previous GeneCards Identifiers for UGP2 Gene

  • GC02P064197
  • GC02P064025
  • GC02P064042
  • GC02P063979
  • GC02P063921
  • GC02P063807
  • GC02P064068

Summaries for UGP2 Gene

Entrez Gene Summary for UGP2 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 precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for UGP2 Gene

UGP2 (UDP-Glucose Pyrophosphorylase 2) is a Protein Coding gene. Diseases associated with UGP2 include Developmental And Epileptic Encephalopathy 83 and Galactosemia I. Among its related pathways are Cytochrome P450 - arranged by substrate type and Galactose metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and uridylyltransferase activity. An important paralog of this gene is UAP1.

UniProtKB/Swiss-Prot Summary for UGP2 Gene

  • UTP--glucose-1-phosphate uridylyltransferase catalyzing the conversion of glucose-1-phosphate into UDP-glucose, a crucial precursor for the production of glycogen.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for UGP2 Gene

Genomics for UGP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for UGP2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J063839 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 257.6 +4.5 4505 12.1 CHD2 TBP MXD4 ZBTB10 SP1 FEZF1 CEBPA MNT BRCA1 SMAD5 UGP2 VPS54 AFTPH SERTAD2 MDH1 WDPCP ENSG00000225889 HSALNG0015441 lnc-VPS54-7 piR-41245-127
GH02J063871 Enhancer 1.2 Ensembl ENCODE dbSUPER 15.5 +30.5 30549 1.8 CEBPA HOMEZ THAP11 ZNF511 FOXA2 SMAD4 SAP130 RXRA MIER3 ZSCAN9 lnc-VPS54-2 UGP2 WDPCP MDH1 piR-56229-043 VPS54
GH02J063698 Enhancer 0.9 ENCODE 17.3 -141.9 -141864 1.8 CEBPA DEK ZNF217 CTCF THAP11 CEBPB SIN3A REST TRIM22 SAP130 UGP2 VPS54 piR-52368-070 lnc-MDH1-1 HSALNG0015436 MDH1 WDPCP lnc-VPS54-7
GH02J063819 Enhancer 1.3 Ensembl ENCODE dbSUPER 11.6 -20.7 -20651 1.8 MXD4 CEBPA ZFP64 ZIC2 HOMEZ KDM6A THAP11 FOXA2 ZNF511 SMAD4 WDPCP UGP2 ENSG00000225889 piR-58156-066 lnc-VPS54-7 MDH1
GH02J063865 Enhancer 0.7 Ensembl dbSUPER 15.6 +24.8 24849 2.4 CEBPA RXRA RBM22 TCF7 RAD21 ZNF384 MAX RUNX3 ARNT CEBPB UGP2 WDPCP lnc-VPS54-2 piR-56229-043 VPS54
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UGP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for UGP2

Top Transcription factor binding sites by QIAGEN in the UGP2 gene promoter:
  • aMEF-2
  • HFH-1
  • IRF-1
  • Lhx3a
  • LHX3b
  • MEF-2A

Genomic Locations for UGP2 Gene

Latest Assembly
50,611 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
50,592 bases
Plus strand

(GRCh37/hg19 by Ensembl)
50,623 bases
Plus strand

Genomic View for UGP2 Gene

Genes around UGP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
UGP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for UGP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for UGP2 Gene

Proteins for UGP2 Gene

  • Protein details for UGP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    UTP--glucose-1-phosphate uridylyltransferase
    Protein Accession:
    Secondary Accessions:
    • Q07131
    • Q0P6K2
    • Q86Y81
    • Q9BU15

    Protein attributes for UGP2 Gene

    508 amino acids
    Molecular mass:
    56940 Da
    Quaternary structure:
    • Homooctamer.

    Three dimensional structures from OCA and Proteopedia for UGP2 Gene

    Alternative splice isoforms for UGP2 Gene


neXtProt entry for UGP2 Gene

Selected DME Specific Peptides for UGP2 Gene


Post-translational modifications for UGP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for UGP2 Gene

Gene Families for UGP2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for UGP2 Gene

  • UTP--glucose-1-phosphate uridylyltransferase

Suggested Antigen Peptide Sequences for UGP2 Gene

GenScript: Design optimal peptide antigens:
  • UDP-glucose pyrophosphorylase 2, isoform CRA_b (D6W5E6_HUMAN)
  • UDP-glucose pyrophosphorylase (UGPA_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the UDPGP type 1 family.
  • Belongs to the UDPGP type 1 family.
genes like me logo Genes that share domains with UGP2: view

Function for UGP2 Gene

Molecular function for UGP2 Gene

UniProtKB/Swiss-Prot Function:
UTP--glucose-1-phosphate uridylyltransferase catalyzing the conversion of glucose-1-phosphate into UDP-glucose, a crucial precursor for the production of glycogen.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=alpha-D-glucose 1-phosphate + H(+) + UTP = diphosphate + UDP-alpha-D-glucose; Xref=Rhea:RHEA:19889, ChEBI:CHEBI:15378, ChEBI:CHEBI:33019, ChEBI:CHEBI:46398, ChEBI:CHEBI:58601, ChEBI:CHEBI:58885; EC=; Evidence={ECO:0000269|PubMed:31820119, ECO:0000269|PubMed:8354390, ECO:0000269|PubMed:8631325};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
[Isoform 2]: Kinetic parameters: KM=917 uM for MgUTP {ECO:0000269|PubMed:31820119}; KM=404 uM for Glc1P {ECO:0000269|PubMed:31820119}; KM=63 uM for UDP-Glc {ECO:0000269|PubMed:31820119}; KM=384 uM for MgPPi {ECO:0000269|PubMed:31820119};
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
[Isoform 1]: Kinetic parameters: KM=301 uM for MgUTP {ECO:0000269|PubMed:31820119}; KM=207 uM for Glc1P {ECO:0000269|PubMed:31820119}; KM=41 uM for UDP-Glc {ECO:0000269|PubMed:31820119};
GENATLAS Biochemistry:
UDP glucose pyrophosphorylase 2,muscle isoform,may be the same as GLAT

Enzyme Numbers (IUBMB) for UGP2 Gene

Phenotypes From GWAS Catalog for UGP2 Gene

Gene Ontology (GO) - Molecular Function for UGP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003983 UTP:glucose-1-phosphate uridylyltransferase activity IEA,TAS 8354390
GO:0005515 protein binding IPI 16189514
GO:0005536 glucose binding IEA --
GO:0016740 transferase activity IEA --
GO:0016779 nucleotidyltransferase activity IEA --
genes like me logo Genes that share ontologies with UGP2: view
genes like me logo Genes that share phenotypes with UGP2: view

Human Phenotype Ontology for UGP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGP2

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for UGP2 Gene

Localization for UGP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGP2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for UGP2 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
plasma membrane 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for UGP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with UGP2: view

Pathways & Interactions for UGP2 Gene

genes like me logo Genes that share pathways with UGP2: view

UniProtKB/Swiss-Prot Q16851-UGPA_HUMAN

  • Pathway: Glycan biosynthesis; glycogen biosynthesis.

Gene Ontology (GO) - Biological Process for UGP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005977 glycogen metabolic process IBA 21873635
GO:0005978 glycogen biosynthetic process IEA,TAS --
GO:0006011 UDP-glucose metabolic process IEA,IMP 31820119
GO:0006065 UDP-glucuronate biosynthetic process TAS --
GO:0007420 brain development IMP 31820119
genes like me logo Genes that share ontologies with UGP2: view

No data available for SIGNOR curated interactions for UGP2 Gene

Drugs & Compounds for UGP2 Gene

(4) Drugs for UGP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glucose 1-phosphate Experimental Pharma 0
Phosphate Experimental Pharma 0
Uridine diphosphate glucose Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0

(1) Additional Compounds for UGP2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
genes like me logo Genes that share compounds with UGP2: view

Transcripts for UGP2 Gene

mRNA/cDNA for UGP2 Gene

12 NCBI additional mRNA sequence :
39 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGP2

Alternative Splicing Database (ASD) splice patterns (SP) for UGP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b · 12c · 12d ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - -
SP5: - - - - - -
SP6: - - - -
SP7: - - - - - - -
SP8: - - - - -
SP9: - -
SP10: - - - - - - - - -
SP11: - - - - - -
SP12: - - - - - - - - - - - -
SP13: - - - - - - - - - - -

Relevant External Links for UGP2 Gene

GeneLoc Exon Structure for

Expression for UGP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for UGP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UGP2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for UGP2 Gene

This gene is overexpressed in Liver, secretome (16.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for UGP2 Gene

Protein tissue co-expression partners for UGP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UGP2

SOURCE GeneReport for Unigene cluster for UGP2 Gene:


mRNA Expression by UniProt/SwissProt for UGP2 Gene:

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 substantia nigra (PubMed:31820119). Also widely expressed among other tissues, including liver, heart, placenta, lung, kidney, pancreas and skeletal muscle (PubMed:8354390, PubMed:8631325).

Evidence on tissue expression from TISSUES for UGP2 Gene

  • Liver(4.9)
  • Nervous system(4.8)
  • Muscle(4.7)
  • Skin(4.7)
  • Heart(3.7)
  • Intestine(3.6)
  • Kidney(3.4)
  • Lung(3.4)
  • Blood(2.3)
  • Pancreas(2.1)
  • Lymph node(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with UGP2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for UGP2 Gene

Orthologs for UGP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for UGP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia UGP2 30 31
  • 99.74 (n)
(Monodelphis domestica)
Mammalia -- 31
  • 98 (a)
-- 31
  • 90 (a)
(Ornithorhynchus anatinus)
Mammalia UGP2 31
  • 96 (a)
(Bos Taurus)
Mammalia UGP2 30 31
  • 93.57 (n)
(Canis familiaris)
Mammalia UGP2 30 31
  • 93.44 (n)
(Mus musculus)
Mammalia Ugp2 30 17 31
  • 92.19 (n)
(Rattus norvegicus)
Mammalia Ugp2 30
  • 91.34 (n)
(Gallus gallus)
Aves UGP2 30 31
  • 81.1 (n)
(Anolis carolinensis)
Reptilia UGP2 31
  • 93 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ugp2 30
  • 75.79 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68615 30
(Danio rerio)
Actinopterygii ugp2b 31
  • 84 (a)
ugp2a 31
  • 82 (a)
wufi53h10 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10939 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4347 32
  • 63 (a)
UGP 31
  • 61 (a)
(Caenorhabditis elegans)
Secernentea K08E3.5a 32
  • 66 (a)
K08E3.5c 32
  • 66 (a)
K08E3.5b 32
  • 64 (a)
K08E3.5d 32
  • 62 (a)
K08E3.5 30 31
  • 59.96 (n)
D1005.2 32
  • 39 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UGP1 31 33
  • 53 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7436 30
(Glycine max)
eudicotyledons Gma.6257 30
(Hordeum vulgare)
Liliopsida Hv.19 30
(Oryza sativa)
Liliopsida Os.10118 30
(Triticum aestivum)
Liliopsida Ta.542 30
(Zea mays)
Liliopsida Zm.9568 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6144 31
  • 63 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4853 30
Species where no ortholog for UGP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for UGP2 Gene

Gene Tree for UGP2 (if available)
Gene Tree for UGP2 (if available)
Evolutionary constrained regions (ECRs) for UGP2: view image

Paralogs for UGP2 Gene

Paralogs for UGP2 Gene

genes like me logo Genes that share paralogs with UGP2: view

Variants for UGP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for UGP2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs768305634 Pathogenic: Developmental and epileptic encephalopathy, 83. Epileptic encephalopathy, early infantile, 83 (EIEE83) [MIM:618744] 63,856,320(+) A/Gp.Met12Val
rs1130982 - p.Met268Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for UGP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for UGP2 Gene

Variant ID Type Subtype PubMed ID
esv21925 CNV loss 19812545
esv2470969 CNV deletion 19546169
esv2658650 CNV deletion 23128226
esv2720141 CNV deletion 23290073
esv2720142 CNV deletion 23290073
esv2720143 CNV deletion 23290073
esv2720144 CNV deletion 23290073
esv2720145 CNV deletion 23290073
esv2720146 CNV deletion 23290073
esv2720147 CNV deletion 23290073
esv2741858 CNV deletion 23290073
esv3591066 CNV loss 21293372
nsv521717 CNV gain 19592680
nsv582126 CNV gain 21841781
nsv582127 CNV gain 21841781
nsv7313 OTHER inversion 18451855

Variation tolerance for UGP2 Gene

Residual Variation Intolerance Score: 12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.81; 16.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UGP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGP2 Gene

Disorders for UGP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for UGP2 Gene - From: OMI, CVR, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search UGP2 in MalaCards View complete list of genes associated with diseases


  • Epileptic encephalopathy, early infantile, 83 (EIEE83) [MIM:618744]: 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. EIEE83 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. {ECO:0000269 PubMed:31820119}. Note=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 EIEE83 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. {ECO:0000269 PubMed:31820119}.

Additional Disease Information for UGP2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with UGP2: view

No data available for Genatlas for UGP2 Gene

Publications for UGP2 Gene

  1. Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases. (PMID: 31820119) Perenthaler E … Barakat TS (Acta neuropathologica 2020) 3 4 74
  2. The crystal structure of human UDP-glucose pyrophosphorylase reveals a latch effect that influences enzymatic activity. (PMID: 22132858) Yu Q … Zheng X (The Biochemical journal 2012) 3 4
  3. Hypoxia promotes glycogen accumulation through hypoxia inducible factor (HIF)-mediated induction of glycogen synthase 1. (PMID: 20300197) Pescador N … del Peso L (PloS one 2010) 3 23
  4. Variants of organic anion transporter polypeptide 2 gene are not risk factors associated with severe neonatal hyperbilirubinemia. (PMID: 20514852) Wong FL … Wang MK (The Malaysian journal of pathology 2009) 3 41
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for UGP2 Gene

Sources for UGP2 Gene