Gene
sox4a
- ID
- ZDB-GENE-030131-8290
- Name
- SRY-box transcription factor 4a
- Symbol
- sox4a Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Acts upstream of or within closure of optic fissure and negative regulation of smoothened signaling pathway. Predicted to be located in nucleus. Is expressed in several structures, including anterior neural rod; digestive system; nervous system; neural tube; and periderm. Human ortholog(s) of this gene implicated in Coffin-Siris syndrome 10 and urinary bladder cancer. Orthologous to human SOX4 (SRY-box transcription factor 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:65850 (20 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 |
|---|---|---|---|
| Coffin-Siris syndrome 10 | Alliance | Coffin-Siris syndrome 10 | 618506 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | High mobility group box domain | High mobility group box domain superfamily | Transcription factor SOX-12/11/4 |
|---|---|---|---|---|
|
UniProtKB:Q6P0Z4
|
363 |
Interactions and Pathways
No data available
Plasmids
No data available