Gene
foxl2a
- ID
- ZDB-GENE-060512-241
- Name
- forkhead box L2a
- Symbol
- foxl2a Nomenclature History
- Previous Names
-
- foxl2
- zgc:136549
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in maintenance of animal organ identity. Predicted to localize to nucleus. Human ortholog(s) of this gene implicated in blepharophimosis, ptosis, and epicanthus inversus syndrome and premature ovarian failure. Is expressed in female organism; gonad; ovarian follicle; ovary; and testis. Orthologous to human FOXL2 (forkhead box L2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from 11 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 |
|---|---|---|---|
| blepharophimosis, ptosis, and epicanthus inversus syndrome | Alliance | Blepharophimosis, epicanthus inversus, and ptosis, type 1 | 110100 |
| blepharophimosis, ptosis, and epicanthus inversus syndrome | Alliance | Blepharophimosis, epicanthus inversus, and ptosis, type 2 | 110100 |
| primary ovarian insufficiency 3 | Alliance | Premature ovarian failure 3 | 608996 |
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 | IPR047515 | Forkhead box protein L2, 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 L2, 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:Q1JPV2
|
306 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
foxl2a-201
(1)
|
Ensembl | 1,057 nt | ||
| mRNA |
foxl2a-202
(1)
|
Ensembl | 403 nt |
Interactions and Pathways
No data available
Plasmids
No data available