Edar Gene Summary [Mouse]
Enables signaling receptor activity. Involved in cytokine-mediated signaling pathway and positive regulation of canonical NF-kappaB signal transduction. Acts upstream of or within several processes, including hair follicle development; positive regulation of non-canonical NF-kappaB signal transduction; and salivary gland cavitation. Located in apical part of cell and plasma membrane. Is expressed in several structures, including embryo ectoderm; integumental system; male accessory gland; sensory organ; and tooth. Used to study hypohidrotic ectodermal dysplasia. Human ortholog(s) of this gene implicated in ectodermal dysplasia 10A and ectodermal dysplasia 10B. Orthologous to human EDAR (ectodysplasin A receptor). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Edar |
| Official Name | ectodysplasin-A receptor [Source:MGI Symbol;Acc:MGI:1343498] |
| Ensembl ID | ENSMUSG00000003227 |
| Bio databases IDs | |
| Aliases | ectodysplasin-A receptor |
| Synonyms | DL, ECTD10A, ECTD10B, ectodysplasin-A receptor, ED1R, ED3, ED5, EDA1R, EDA3, EDA-A1R, HRM1, LOC678867, RGD1561714 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Edar often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- extracellular domain
- signaling receptor activity
- ectodomain
- intracellular domain
- protein binding
- cytosolic tail domain
- Tumor necrosis factor receptor superfamily (TNFRSF)
- Death Domain Superfamily of protein-protein interaction domains
- transmembrane receptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal dominant hypohidrotic/hair/nail type ectodermal dysplasia type 10A
- hereditary disorder
- autosomal recessive hypohidrotic/hair/tooth type ectodermal dysplasia type 10B
- nonsyndromic tooth agenesis
- male pattern hair loss
- androgenic alopecia
- hypohidrotic ectodermal dysplasia
- autosomal dominant hypohidrotic/hair/tooth type ectodermal dysplasia type 10A
- autosomal recessive hypohidrotic/hair/tooth type ectodermal dysplasia type 11B
- ectodermal dysplasia
phenotypes
- decreased mean platelet volume
- enlarged heart
- preweaning lethality incomplete penetrance
- abnormal auchene hair morphology
- abnormal awl hair morphology
- abnormal branching of the mammary ductal tree
- abnormal circumvallate papillae morphology
- abnormal coat appearance
- abnormal coat/ hair morphology
- abnormal coat/hair pigmentation
- abnormal enamel knot morphology
- abnormal hair cycle
- abnormal hair follicle development
- abnormal hair follicle morphology
- abnormal hair growth
- abnormal hair texture
- abnormal incisor morphology
- abnormal mammary fat pad morphology
- abnormal minor salivary gland morphology
- abnormal molar cusp morphology
- abnormal molar morphology
- abnormal molar root morphology
- abnormal platelet volume
- abnormal seminal vesicle morphology
- abnormal tail position or orientation
- abnormal tooth morphology
- abnormal vibrissa number
- absent Meibomian glands
- absent anterior lingual gland
- absent auchene hairs
- absent duvet hair
- absent guard hair
- absent hair follicles
- absent incisors
- absent molars
- absent palatine gland
- absent sweat gland
- absent zigzag hairs
- cataract
- darkened coat color
- decreased eccrine gland number
- decreased molar number
- focal hair loss
- greasy coat
- hairless tail
- increased apoptosis
- increased eccrine gland number
- irregular coat pigmentation
- kinked tail
- preweaning lethality complete penetrance
- shiny fur
- small incisors
- small molars
- sparse hair
- supernumerary teeth
role in cell
- apoptosis
- activation in
- proliferation
- cell death
- survival
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- apical compartment
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Edar gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- salivary gland cavitation
- hair follicle development
- cytokine-mediated signaling pathway
- positive regulation of JNK cascade
- positive regulation of gene expression
- pigmentation
- apoptotic process
- epidermis development
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- cell differentiation
- odontogenesis of dentin-containing tooth
Cellular Component
Where in the cell the gene product is active
- apical part of cell
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- transmembrane signaling receptor activity
- signaling receptor activity