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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 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
External Ids for UGP2 Gene
- HGNC: 12527
- NCBI Entrez Gene: 7360
- Ensembl: ENSG00000169764
- OMIM®: 191760
- UniProtKB/Swiss-Prot: Q16851
Previous HGNC Symbols for UGP2 Gene
- UGP1
Previous GeneCards Identifiers for UGP2 Gene
- GC02P064197
- GC02P064025
- GC02P064042
- GC02P063979
- GC02P063921
- GC02P063807
- GC02P064068
Summaries 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.
Additional gene information for UGP2 Gene
- HGNC (12527)
- NCBI Entrez Gene (7360)
- Ensembl (ENSG00000169764)
- OMIM® (191760)
- UniProtKB/Swiss-Prot (Q16851)
- Open Targets Platform(ENSG00000169764)
- Search for UGP2 at DataMed
- Search for UGP2 at HumanCyc
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
- 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
- chr2:63,840,952-63,891,562
- (GRCh38/hg38)
- Size:
- 50,611 bases
- Orientation:
- Plus strand
Previous Assembly
- chr2:64,068,103-64,118,694
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 50,592 bases
- Orientation:
- Plus strand
- chr2:64,068,074-64,118,696
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 2p15 by HGNC
- 2p15 by Entrez Gene
- 2p15 by Ensembl
UGP2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q07131
- Q0P6K2
- Q86Y81
- Q9BU15
Protein attributes for UGP2 Gene
- Size:
- 508 amino acids
- Molecular mass:
- 56940 Da
- Quaternary structure:
-
- Homooctamer.
Protein Expression 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
Other Protein References for UGP2 Gene
- ENSEMBL proteins:
-
- ENSP00000418375
- ENSP00000418619
- ENSP00000419548
- ENSP00000420793
- ENSP00000377939
- ENSP00000418179
- ENSP00000417286
- ENSP00000482043
- ENSP00000417801
- ENSP00000418206
- ENSP00000504663
- ENSP00000504265
- ENSP00000486008
- ENSP00000502898
- ENSP00000419019
- ENSP00000504593
- ENSP00000419551
- ENSP00000503329
- ENSP00000503051
- ENSP00000338703
- ENSP00000419442
- ENSP00000486332
- ENSP00000420131
- ENSP00000411803
- ENSP00000420760
- ENSP00000418642
- ENSP00000419335
- ENSP00000417358
- ENSP00000420342
- ENSP00000419238
- ENSP00000504563
- Q16851.175
- REFSEQ proteins:
Antibodies for research
- GeneTex Anti-UGP2 antibody [N3C3-2] and Anti-UGP2 antibody [N1C1]
-
Custom Antibody ServicesOriGene Antibodies for UGP2
- Novus Biologicals Antibodies for UGP2
- Invitrogen Antibodies for UGP2 (AFLGC-UGP2)
-
Biorbyt antibodies for UGP2
-
Custom Antibody ServicesProSci Antibodies for UGP2
-
Santa Cruz Biotechnology (SCBT) Antibodies for UGP2
- Sino Biological Antibodies for UGP2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for UGP2
- Origene Custom Protein Services for UGP2
- ProSpec Recombinant Proteins for UGP2
-
Abcam proteins for UGP2
Assay products for research
- antibodies-online: Search results for available UGP2 related products ranked by validation data
Domains & Families for UGP2 Gene
Gene Families for UGP2 Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for UGP2 Gene
- InterPro:
- Blocks:
-
- UTP--glucose-1-phosphate uridylyltransferase
- 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- Family:
-
- Belongs to the UDPGP type 1 family.
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=2.7.7.9; 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
| 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 | -- |
Phenotypes for UGP2 Gene
- GenomeRNAi human phenotypes for UGP2:
-
- no effect
- Increased shRNA abundance (Z-score > 2)
- shRNA abundance <= 25%
- Increased epidermal growth factor (EGF) endocytosis, decreased transferrin (TF) endocytosis
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased vesicular stomatitis virus (VSV) infection
- Transferrin accumulation in the perinuclear area
- Decreased shRNA abundance
- Decreased viability of wild-type and TP53 knockout cells
- Decreased viability
- Decreased shRNA abundance (Z-score < -2)
- Decreased telomerase activity
Animal Models for research
-
Taconic Biosciences Mouse Models for UGP2
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for UGP2 - Starting at $85 >
- * UGP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for UGP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UGP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for UGP2
miRNA for UGP2 Gene
- miRTarBase miRNAs that target UGP2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UGP2
- Browse OriGene Inhibitory RNA Products For UGP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGP2
Clone products for research
- Applied Biological Materials (abm): Clones for UGP2 - Starting at $45 >
- * UGP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG207977
- MG208169
- MR207977
- MR207977L3
- MR207977L4
- MR208169
- MR208169L3
- MR208169L4
- MR230242
- RC200246
- RC200246L3
- RC200246L4
- RC208376
- RC208376L1
- RC208376L2
- RC208376L3
- RC208376L4
- RG200246
- RG208376
- RR214730
- RR214730L3
- RR214730L4
- MR207977L3V
- MR207977L4V
- MR208169L3V
- MR208169L4V
- RC200246L3V
- RC200246L4V
- RC208376L1V
- RC208376L2V
- RC208376L3V
- RC208376L4V
- RR214730L3V
- RR214730L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for UGP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UGP2
Cell Lines for research
-
Horizon Cell Lines 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
- Cytoplasm.
| 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 |
- Centrosome (2)
- Mitochondria (2)
- Nucleoplasm (2)
| 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 |
Pathways & Interactions for UGP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Galactose metabolism |
Glycogen metabolism
.01
|
|
| 2 | Porphyrin and chlorophyll metabolism |
.67
.67
|
|
| 3 | Glucose metabolism | ||
| 4 | Metabolism |
.40
|
|
| 5 | Cytochrome P450 - arranged by substrate type | ||
Pathways by source for UGP2 Gene
4 BioSystems pathways for UGP2 Gene
8 Reactome pathways for UGP2 Gene
6 KEGG pathways for UGP2 Gene
1 GeneGo (Thomson Reuters) pathway for UGP2 Gene
- Glycogen metabolism
UniProtKB/Swiss-Prot Q16851-UGPA_HUMAN
- Pathway: Glycan biosynthesis; glycogen biosynthesis.
Interacting Proteins for UGP2 Gene
Selected Interacting proteins:
Q16851-UGPA_HUMAN
ENSP00000338703
for UGP2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for UGP2
| 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 |
No data available for SIGNOR curated interactions for UGP2 Gene
Drugs & Compounds for UGP2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for UGP2 Gene
mRNA/cDNA for UGP2 Gene
- 8 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 39 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000337130 2150 nts (view in UCSC)
- ENST00000394417 2105 nts (view in UCSC)
- ENST00000445915 1955 nts (view in UCSC)
- ENST00000465515 668 nts (view in UCSC)
- ENST00000466642 1023 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for UGP2 - Starting at $85 >
- * UGP2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for UGP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UGP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for UGP2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for UGP2
- Browse OriGene Inhibitory RNA Products For UGP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGP2
Clone products for research
- Applied Biological Materials (abm): Clones for UGP2 - Starting at $45 >
- * UGP2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG207977
- MG208169
- MR207977
- MR207977L3
- MR207977L4
- MR208169
- MR208169L3
- MR208169L4
- MR230242
- RC200246
- RC200246L3
- RC200246L4
- RC208376
- RC208376L1
- RC208376L2
- RC208376L3
- RC208376L4
- RG200246
- RG208376
- RR214730
- RR214730L3
- RR214730L4
- MR207977L3V
- MR207977L4V
- MR208169L3V
- MR208169L4V
- RC200246L3V
- RC200246L4V
- RC208376L1V
- RC208376L2V
- RC208376L3V
- RC208376L4V
- RR214730L3V
- RR214730L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for UGP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UGP2
| 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 embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Inner Cell Mass (Early Embryonic Tissues)
- Kidney (Urinary System)
- Intestine (Gastrointestinal Tract)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Esophagus (Gastrointestinal Tract)
-
Stomach (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Adipose (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for UGP2 Gene
This gene is overexpressed in Muscle - Skeletal (x4.5).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for UGP2
SOURCE GeneReport for Unigene cluster for UGP2 Gene:
Hs.516217mRNA Expression by UniProt/SwissProt for UGP2 Gene:
Q16851-UGPA_HUMAN
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)
Primer products for research
-
OriGene qPCR primer pairs for UGP2
-
OriGene qPCR primer pairs and template standards for UGP2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | UGP2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | UGP2 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | UGP2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | UGP2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ugp2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ugp2 30 |
|
||
| Chicken (Gallus gallus) |
Aves | UGP2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | UGP2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ugp2 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68615 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ugp2b 31 |
|
OneToMany | |
| ugp2a 31 |
|
OneToMany | |||
| wufi53h10 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10939 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG4347 32 |
|
|
|
| UGP 31 |
|
OneToOne | |||
| Worm (Caenorhabditis elegans) |
Secernentea | K08E3.5a 32 |
|
|
|
| K08E3.5c 32 |
|
|
|||
| K08E3.5b 32 |
|
|
|||
| K08E3.5d 32 |
|
|
|||
| K08E3.5 30 31 |
|
OneToOne | |||
| D1005.2 32 |
|
|
|||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | UGP1 31 33 |
|
OneToOne | |
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7436 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.6257 30 |
|
||
| Barley (Hordeum vulgare) |
Liliopsida | Hv.19 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os.10118 30 |
|
||
| Wheat (Triticum aestivum) |
Liliopsida | Ta.542 30 |
|
||
| Corn (Zea mays) |
Liliopsida | Zm.9568 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6144 31 |
|
OneToOne | |
| 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
- 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
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 NM_006759.4(UGP2):c.34A>G |
INITIATIOR_CODON_VARIANT,MISSENSE | |
| rs1130982 | - |
p.Met268Ile |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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 Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for UGP2 Gene
Disorders for UGP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| developmental and epileptic encephalopathy 83 |
|
|
| galactosemia i |
|
|
| galactosemia iii |
|
|
Search UGP2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
UGPA_HUMAN- 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
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for UGP2 Gene
Publications for UGP2 Gene
- 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
- 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
- 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
- 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
- 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
ExternalLinks
Products for UGP2 Gene
- Custom Antibody ServicesOriGene Antibodies for UGP2
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- Custom Assay Services
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- MG207977
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- MR207977
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- RR214730
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- RC208376L1V
- RC208376L2V
- RC208376L3V
- RC208376L4V
- RR214730L3V
- RR214730L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Sino Biological Human cDNA Clone for UGP2
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- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for UGP2 (AFLGC-UGP2)
- VectorBuilder Custom and pre-made DNA vectors for UGP2 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for UGP2 (ie. lentivirus, AAV, adenovirus)
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- VectorBuilder Virus packaging for UGP2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for UGP2
- antibodies-online: Show 11 available UGP2 Antibodies ranked by validation data
- Compare Top UGP2 Antibodies
- antibodies-online: Search results for available UGP2 related products ranked by validation data
- antibodies-online: Show 11 available UGP2 Proteins ranked by validation data
- Compare Top UGP2 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for UGP2
- Search Santa Cruz Biotechnology (SCBT) for UGP2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for UGP2
- Custom Antibody ServicesProSci Antibodies for UGP2
- Search for UGP2 Proteins at ProSci
- Horizon Cell Lines for UGP2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for UGP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for UGP2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for UGP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for UGP2
- Biorbyt antibodies for UGP2
Sources for UGP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB