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 2.7.7.9 4 52
  • UDPGP 3 4
  • 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
  • SVUGP2 3
  • UDPGP2 3
  • PHC379 3
  • UGPase 4
  • UGPP1 3
  • UGPP2 3
  • UDPG 3

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 Epileptic Encephalopathy, Early Infantile, 83 and Galactosemia. Among its related pathways are Porphyrin and chlorophyll metabolism 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

  • Plays a central role as a glucosyl donor in cellular metabolic pathways.

Additional gene information for UGP2 Gene

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 for UGP2 Gene

Promoters and enhancers for UGP2 Gene
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for UGP2 Gene
chr2:63,840,940-63,891,562
(GRCh38/hg38)
Size:
50,623 bases
Orientation:
Plus strand
chr2:64,068,074-64,118,696
(GRCh37/hg19)
Size:
50,623 bases
Orientation:
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:
    Q16851-UGPA_HUMAN
    Recommended name:
    UTP--glucose-1-phosphate uridylyltransferase
    Protein Accession:
    Q16851
    Secondary Accessions:
    • Q07131
    • Q0P6K2
    • Q86Y81
    • Q9BU15

    Protein attributes for UGP2 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for UGP2 Gene

Selected DME Specific Peptides for UGP2 Gene

Q16851:
  • FVSNIDNLGA
  • ADVKGGTL
  • QELELSVKKELEKILTTA
  • KFKIFNTNN
  • HVDEFKS
  • WYPPGHG
  • FNTNNLW
  • VPRSRFLPVK
  • KLNGGLG
  • LELDHLTVSGDV
  • DNLGATVDL
  • LMNSFNT
  • EHTKKDLDGFRKL

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

Blocks:
  • UTP--glucose-1-phosphate uridylyltransferase
InterPro:
ProtoNet:

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

Q16851

UniProtKB/Swiss-Prot:

UGPA_HUMAN :
  • Belongs to the UDPGP type 1 family.
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:
Plays a central role as a glucosyl donor in cellular metabolic pathways.
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=2.7.7.9;.
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 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

Animal Model Products

  • Taconic Biosciences Mouse Models for UGP2

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

Localization for UGP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for UGP2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
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
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
golgi apparatus 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 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 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

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 TAS --
GO:0006011 UDP-glucose metabolic process IBA,IEA 21873635
GO:0006065 UDP-glucuronate biosynthetic process TAS --
GO:0019255 glucose 1-phosphate metabolic process IEA --
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

(3) Drugs for UGP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Uridine diphosphate glucose Experimental Pharma 0
Uridine triphosphate Experimental, Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Glucose 1-phosphate
  • 1-O-phosphono-D-Glucopyranose
  • Cori ester
  • D-Glucose 1-phosphate
  • GLC-1-P
  • Glucose 1-phosphoric acid
2255-14-3, 59-56-3
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with UGP2: view

Transcripts for UGP2 Gene

mRNA/cDNA for UGP2 Gene

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

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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: - - - - - - - - - - -
SP14:

Relevant External Links for UGP2 Gene

GeneLoc Exon Structure for
UGP2

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:

Hs.516217

Evidence on tissue expression from TISSUES for UGP2 Gene

  • Liver(4.9)
  • Nervous system(4.8)
  • Muscle(4.7)
  • Skin(4.6)
  • Heart(3.4)
  • Kidney(3.4)
  • Intestine(3.3)
  • Lung(3.1)
genes like me logo Genes that share expression patterns with UGP2: view

No data available for mRNA Expression by UniProt/SwissProt and 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
chimpanzee
(Pan troglodytes)
Mammalia UGP2 31 30
  • 99.74 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 98 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia UGP2 31
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia UGP2 31 30
  • 93.57 (n)
OneToOne
dog
(Canis familiaris)
Mammalia UGP2 31 30
  • 93.44 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ugp2 17 31 30
  • 92.19 (n)
rat
(Rattus norvegicus)
Mammalia Ugp2 30
  • 91.34 (n)
chicken
(Gallus gallus)
Aves UGP2 31 30
  • 81.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UGP2 31
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ugp2 30
  • 75.79 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68615 30
zebrafish
(Danio rerio)
Actinopterygii ugp2b 31
  • 84 (a)
OneToMany
ugp2a 31
  • 82 (a)
OneToMany
wufi53h10 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10939 30
fruit fly
(Drosophila melanogaster)
Insecta CG4347 32
  • 63 (a)
UGP 31
  • 61 (a)
OneToOne
worm
(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 31 30
  • 59.96 (n)
OneToOne
D1005.2 32
  • 39 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes UGP1 33 31
  • 53 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7436 30
soybean
(Glycine max)
eudicotyledons Gma.6257 30
wheat
(Triticum aestivum)
Liliopsida Ta.542 30
corn
(Zea mays)
Liliopsida Zm.9568 30
rice
(Oryza sativa)
Liliopsida Os.10118 30
barley
(Hordeum vulgare)
Liliopsida Hv.19 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6144 31
  • 63 (a)
OneToOne
Cin.4853 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4853 30
Species where no ortholog for UGP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

ENSEMBL:
Gene Tree for UGP2 (if available)
TreeFam:
Gene Tree for UGP2 (if available)
Aminode:
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
805980 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 83 63,856,320(+) A/G INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT
rs1130982 - p.Met268Ile

Additional dbSNP identifiers (rs#s) for UGP2 Gene

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
UGP2

SNP Genotyping and Copy Number Assay Products

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: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 83
  • eiee83
galactosemia
  • galk deficiency
chediak-higashi syndrome
  • chs
- elite association - COSMIC cancer census association via MalaCards
Search UGP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for UGP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with UGP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for UGP2 Gene

Publications for UGP2 Gene

  1. 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 54
  2. 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 54
  3. 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 54
  4. 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 54
  5. Sequence differences between human muscle and liver cDNAs for UDPglucose pyrophosphorylase and kinetic properties of the recombinant enzymes expressed in Escherichia coli. (PMID: 8631325) Duggleby RG … Chang HY (European journal of biochemistry 1996) 3 4 54

Products for UGP2 Gene

Sources for UGP2 Gene