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
- Is 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 anatomical structure morphogenesis; cell differentiation; and regulation of transcription by RNA polymerase II. Acts upstream of or within maintenance of animal organ identity. Predicted to be located in nucleus. Is expressed in female organism; gonad; ovarian follicle; ovary; and testis. Human ortholog(s) of this gene implicated in blepharophimosis, ptosis, and epicanthus inversus syndrome and primary ovarian insufficiency 3. Orthologous to human FOXL2 (forkhead box L2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 5 figures from Yang et al., 2017
- Cross-Species Comparison
- Alliance
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 |
| 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:F8W2R1
|
104 | |||||
|
UniProtKB:Q1JPV2
|
306 |
| Type | Name | Length (nt) | Analysis |
|---|---|---|---|
| mRNA |
foxl2a-201
(1)
|
1057 nt | |
| mRNA |
foxl2a-202
(1)
|
403 nt |
Interactions and Pathways
No data available
Plasmids
No data available