ZFIN is now using GRCz12tu for Genomic Data
        
        
        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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- 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
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- 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 | 
- Genome Browsers
                
                    
                        Interactions and Pathways
                    
                    
                
                
            
        
        
    
        
            
            
    
    
        
    
No data available
    
        
        
    
    
    
                
                    
                        Plasmids
                    
                    
                
                
            
        
        
    
        
            
            
    
    
        
    
No data available
    
        
        
    
    
    - Genome Browsers
