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 and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. 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 nuclear chromatin. Is expressed in several structures, including head; paraxial mesoderm; periocular mesenchyme; vascular associated smooth muscle cell; and vasculature. Human ortholog(s) of this gene implicated in Axenfeld-Rieger syndrome; Axenfeld-Rieger syndrome type 3; anterior segment dysgenesis 3; and glaucoma. Orthologous to human FOXC1 (forkhead box C1).
Genome Resources
Note
None
Expression
All Expression Data
25 figures from 13 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
Fig. 4 from De Val et al., 2008
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With foxc1b Human Ortholog
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
Associated With foxc1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
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 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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations