Gene
foxc1b
- ID
- ZDB-GENE-010302-2
- Name
- forkhead box C1b
- Symbol
- foxc1b Nomenclature History
- Previous Names
-
- id:ibd5079 (1)
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in several processes, including animal organ development; regulation of platelet-derived growth factor receptor-alpha signaling pathway; and vasculature development. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3; anterior segment dysgenesis 3; and glaucoma. Is expressed in several structures, including fin bud; head; paraxial mesoderm; periocular mesenchyme; and vasculature. Orthologous to human FOXC1 (forkhead box C1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 31 figures from 19 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 |
|---|---|---|---|
| anterior segment dysgenesis 3 | Alliance | Anterior segment dysgenesis 3, multiple subtypes | 601631 |
| Axenfeld-Rieger syndrome type 3 | Alliance | Axenfeld-Rieger syndrome, type 3 | 602482 |
| iridogoniodysgenesis syndrome | Alliance | Anterior segment dysgenesis 3, multiple subtypes | 601631 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018122 | Fork head domain conserved site1 |
| Conserved_site | IPR030456 | Fork head domain conserved site 2 |
| Domain | IPR001766 | Fork head domain |
| Domain | IPR047391 | Forkhead box protein C1/C2-like, forkhead domain |
| Family | IPR050211 | Forkhead box domain-containing protein |
| Homologous_superfamily | IPR036388 | Winged helix-like DNA-binding domain superfamily |
| Homologous_superfamily | IPR036390 | Winged helix DNA-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Forkhead box domain-containing protein | Forkhead box protein C1/C2-like, forkhead domain | Fork head domain | Fork head domain conserved site1 | Fork head domain conserved site 2 | Winged helix DNA-binding domain superfamily | Winged helix-like DNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q9DE24
|
433 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
foxc1b-201
(1)
|
Ensembl | 1,955 nt |
Interactions and Pathways
No data available
Plasmids
No data available