Gene
irf6
- ID
- ZDB-GENE-040426-1137
- Name
- interferon regulatory factor 6
- Symbol
- irf6 Nomenclature History
- Previous Names
-
- zgc:63500 (1)
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in epidermis development. Acts upstream of or within embryonic neurocranium morphogenesis; epithelium development; and hard palate morphogenesis. Predicted to be located in cytoplasm. Predicted to be active in nucleus. Is expressed in several structures, including blastoderm; digestive system; ethmoid cartilage; oral region; and sensory system. Human ortholog(s) of this gene implicated in several diseases, including Van der Woude syndrome; cleft lip; cleft palate; orofacial cleft 6; and popliteal pterygium syndrome. Orthologous to human IRF6 (interferon regulatory factor 6).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| orofacial cleft 6 | Alliance | {Orofacial cleft 6} | 608864 |
| popliteal pterygium syndrome | Alliance | Popliteal pterygium syndrome 1 | 119500 |
| Van der Woude syndrome | Alliance | van der Woude syndrome 1 | 119300 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR019817 | Interferon regulatory factor, conserved site |
| Domain | IPR001346 | Interferon regulatory factor, DNA-binding domain |
| Domain | IPR019471 | Interferon regulatory factor-3 |
| Homologous_superfamily | IPR008984 | SMAD/FHA domain superfamily |
| Homologous_superfamily | IPR017855 | SMAD-like domain superfamily |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
| Homologous_superfamily | IPR036390 | Winged helix DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | Interferon regulatory factor-3 | Interferon regulatory factor, conserved site | Interferon regulatory factor, DNA-binding domain | SMAD/FHA domain superfamily | SMAD-like domain superfamily | Winged helix DNA-binding domain superfamily | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:Q6PGZ7 | InterPro | 492 |
Interactions and Pathways
No data available
Plasmids