ZFIN is now using GRCz12tu for Genomic Data
        
        
        Gene
sox9a
- ID
- ZDB-GENE-001103-1
- Name
- SRY-box transcription factor 9a
- Symbol
- sox9a Nomenclature History
- Previous Names
- 
    
        
    
    
        
        - jef (1)
- jellyfish
- wu:fj17b12
- zgc:111921
 
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Enables chromatin binding activity. Acts upstream of or within cartilage morphogenesis; embryonic morphogenesis; and glial cell differentiation. Located in cytoplasm. Is expressed in several structures, including brain; ectoderm; head; reproductive system; and skeletal system. Used to study campomelic dysplasia. Human ortholog(s) of this gene implicated in 46,XX sex reversal 2; 46,XY sex reversal 10; campomelic dysplasia; lung cancer; and lung carcinoma. Orthologous to human SOX9 (SRY-box transcription factor 9).
- Genome Resources
- Note
- None
- Comparative Information
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- All Expression Data
- 222 figures from 168 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
                
                    
                        Wild Type Expression Summary
                    
                    
                
                
            
        
        
    
        
            
                
            
        
    
    
    - All Phenotype Data
- 19 figures from 12 publications
- Cross-Species Comparison
- Alliance
                
                    
                        Phenotype Summary
                    
                    
                
                
            
        
        
    
        
            
                
            
        
    
    
    
                
                    
                        Mutations
                    
                    
                
                
            
        
        
    
        
            
            
    
    
                
                    
                        Human Disease
                    
                    
                
                
            
        
        
    
        
            
            
    
    | Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID | 
|---|---|---|---|
| 46,XX sex reversal 2 | Alliance | 46XX sex reversal 2 | 278850 | 
| 46,XY sex reversal 10 | Alliance | 46XY sex reversal 10 | 616425 | 
| campomelic dysplasia | Alliance | Acampomelic campomelic dysplasia | 114290 | 
| campomelic dysplasia | Alliance | Campomelic dysplasia | 114290 | 
| campomelic dysplasia | Alliance | Campomelic dysplasia with autosomal sex reversal | 114290 | 
| Human Disease | Fish | Conditions | Citations | 
|---|---|---|---|
| campomelic dysplasia | sox9ahi1134Tg/hi1134Tg | standard conditions | (2) | 
| campomelic dysplasia | sox9atw37/tw37 | standard conditions | Yan et al., 2002 | 
                
                    
                        Domain, Family, and Site Summary
                    
                    
                
                
            
        
        
    
        
            
                
    
        
    
    
    
            
        
    
    
    
                
                    
                        Domain Details Per Protein
                    
                    
                
                
            
        
        
    
        
            
                
    
        
    | Protein | Additional Resources | Length | High mobility group box domain | High mobility group box domain superfamily | Sox developmental protein N-terminal | SOX Transcription Factors | 
|---|---|---|---|---|---|---|
| UniProtKB:Q9DFH2 | InterPro | 462 | 
- Genome Browsers
                
                    
                        Interactions and Pathways
                    
                    
                
                
            
        
        
    
        
            
            
    
    
        
    
No data available
    
        
        
    
    
    
                
                    
                        Plasmids
                    
                    
                
                
            
        
        
    
        
            
            
    
    
        
    
No data available
    
        
        
    
    
    - Genome Browsers
