EDAR Gene Summary [Human]
This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | EDAR |
| Official Name | ectodysplasin A receptor [Source:HGNC Symbol;Acc:HGNC:2895] |
| Ensembl ID | ENSG00000135960 |
| 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 | Human, Homo sapiens |
| 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 human 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
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 human 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