Gene
edar
- ID
- ZDB-GENE-070117-2062
- Name
- ectodysplasin A receptor
- Symbol
- edar Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have signaling receptor activity. Involved in dermal bone morphogenesis and fin development. Predicted to localize to plasma membrane. Human ortholog(s) of this gene implicated in ectodermal dysplasia 10A and ectodermal dysplasia 10B. Is expressed in several structures, including epidermal cell; integument; mouth; pectoral fin skeleton; and pelvic fin bud. Orthologous to human EDAR (ectodysplasin A receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 9 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 12 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| ectodermal dysplasia 10A | Alliance | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | 129490 |
| ectodermal dysplasia 10B | Alliance | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | 224900 |
| [Hair morphology 1, hair thickness] | 612630 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Death-like domain superfamily | Tumor necrosis factor receptor EDAR, N-terminal | Tumor necrosis factor receptor superfamily member 19/27/EDAR |
|---|---|---|---|---|
|
UniProtKB:A0A0R4IGE7
|
460 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available