Gene
ext2
- ID
- ZDB-GENE-041124-3
- Name
- exostosin glycosyltransferase 2
- Symbol
- ext2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and acetylglucosaminyltransferase activity. Acts upstream of or within several processes, including axon guidance; embryonic morphogenesis; and proteoglycan biosynthetic process. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in Golgi apparatus. Is expressed in nervous system and pectoral fin musculature. Used to study hereditary multiple exostoses. Orthologous to human EXT2 (exostosin glycosyltransferase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Lee et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 62 figures from 21 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| hereditary multiple exostoses | Alliance | Exostoses, multiple, type 2 | 133701 |
| Seizures, scoliosis, and macrocephaly syndrome | 616682 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hereditary multiple exostoses | ext2to273b/to273b | standard conditions | Wiweger et al., 2014 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Exostosin, GT47 domain | Exostosin-like | Glycosyl transferase 64 domain | Nucleotide-diphospho-sugar transferases |
|---|---|---|---|---|---|---|
| UniProtKB:Q5U7A7 | InterPro | 719 | ||||
| UniProtKB:A0A8M1N3H0 | InterPro | 719 | ||||
| UniProtKB:A0AB32TX90 | InterPro | 736 |
Interactions and Pathways
No data available
Plasmids
No data available