Gene
ugp2b
- ID
- ZDB-GENE-030131-6352
- Name
- UDP-glucose pyrophosphorylase 2b
- Symbol
- ugp2b Nomenclature History
- Previous Names
-
- fi53h10
- wu:fi53h10
- zgc:85662 (1)
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have UTP:glucose-1-phosphate uridylyltransferase activity. Predicted to be involved in UDP-glucose metabolic process and glycogen metabolic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. Is expressed in epidermis; notochord; polster; pronephric duct; and ventral mesoderm. Orthologous to human UGP2 (UDP-glucose pyrophosphorylase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85662 (11 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| developmental and epileptic encephalopathy 83 | Alliance | Developmental and epileptic encephalopathy 83 | 618744 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Nucleotide-diphospho-sugar transferases | UDPGP family | UTP--glucose-1-phosphate uridylyltransferase |
|---|---|---|---|---|
|
UniProtKB:F1QDY2
|
506 | |||
|
UniProtKB:A0A0R4IBN4
|
510 | |||
|
UniProtKB:A0A8M1P748
|
554 |
Interactions and Pathways
No data available
Plasmids
No data available