EDA2R Gene Summary [Human]
The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]
Details
| Type | Protein Coding |
| Official Symbol | EDA2R |
| Official Name | ectodysplasin A2 receptor [Source:HGNC Symbol;Acc:HGNC:17756] |
| Ensembl ID | ENSG00000131080 |
| Bio databases IDs | |
| Aliases | ectodysplasin A2 receptor |
| Synonyms | 9430060M22Rik, ectodysplasin A2 receptor, EDA-A2R, RGD1564025, TNFRSF27, XEDAR |
| 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 EDA2R 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
- cytoplasmic domain
- TNFR/NGFR cysteine-rich region
- protein binding
- cytosolic tail domain
- Tumor necrosis factor receptor superfamily (TNFRSF)
- 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
- breast cancer
- adenoma formation
- glioma formation
- aldosterone producing adrenocortical adenoma
- cancer cachexia
- hypodontia
- glioma
role in cell
- differentiation
- apoptosis
- colony formation
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
- cellular membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EDA2R gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tumor necrosis factor-mediated signaling pathway
- positive regulation of JNK cascade
- signal transduction by p53 class mediator resulting in induction of apoptosis
- cytokine-mediated signaling pathway
- epidermis development
- positive regulation of I-kappaB kinase/NF-kappaB cascade
- ectodermal cell differentiation
Cellular Component
Where in the cell the gene product is active
- membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- transmembrane signaling receptor activity
- protein binding
- tumor necrosis factor-activated receptor activity
- signaling receptor activity