EDA2R
Ectodysplasin A2 Receptor
Gene Information Card
| Symbol | EDA2R |
|---|---|
| Full Name | Ectodysplasin A2 Receptor |
| Gene Type | Protein coding |
| Chromosomal Location | Xq12 |
| NCBI Gene ID | 60488 ncbi.nlm.nih.gov/gene/60488 |
| Ensembl ID | ENSG00000131019 |
| UniProt ID | Q9HAV5 |
| OMIM ID | 300276 |
| HGNC ID | 17756 |
| Aliases | XEDAR, TNFRSF27, EDA-A2R |
Description
EDA2R (Ectodysplasin A2 Receptor), also known as XEDAR or TNFRSF27, is a member of the tumor necrosis factor receptor superfamily. It is specifically activated by the ligand EDA-A2 (encoded by the EDA gene) and plays a critical role in the NF-kB signaling pathway, which is essential for the development of ectodermal tissues such as hair follicles, sweat glands, and teeth. Mutations in EDA2R are associated with X-linked hypohidrotic ectodermal dysplasia (XLHED) and have been implicated in certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked hypohidrotic ectodermal dysplasia (XLHED) | Loss-of-function mutations in EDA2R impair EDA-A2/NF-kB signaling, disrupting ectodermal appendage development. | ClinVar, OMIM |
| Ectodermal dysplasia, anhidrotic, X-linked | Similar mechanism; reduced receptor function leads to defective sweat gland and hair follicle formation. | OMIM #300276 |
| Breast cancer | Altered EDA2R expression may modulate tumor microenvironment and NF-kB-mediated survival pathways. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Sweat gland | 0.0 | Not detected |
| Hair follicle | 0.0 | Not detected |
| Breast | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.0 | No detectable expression |
| HeLa | 0.0 | No detectable expression |
| MCF7 | 0.0 | No detectable expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.457C>T (p.Arg153*) | Nonsense | Rare | Loss of function; truncated protein |
| c.682G>A (p.Gly228Arg) | Missense | Rare | Impaired ligand binding and signaling |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of translation |
Mutation functional classification
Loss of Function (LOF)
Most reported EDA2R mutations are loss-of-function, leading to reduced or absent NF-kB activation and ectodermal dysplasia.
Gain of Function (GOF)
No gain-of-function mutations have been reported in EDA2R.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for EDA2R.
View complete mutation data：
Gene Ontology (GO)
| • receptor activity (GO:0004872) | • signal transduction (GO:0007165) |
| • positive regulation of I-kappaB kinase/NF-kB signaling (GO:0043123) | • plasma membrane (GO:0005886) |
Pathways
• NF-kB signaling pathway (Reactome: R-HSA-975110)
• EDA-A2 signaling (Reactome: R-HSA-5669034)
Protein Summary
EDA2R is a 297-amino acid type I transmembrane protein with two cysteine-rich domains in the extracellular region, a transmembrane domain, and a cytoplasmic tail containing a TRAF-binding motif. It specifically binds the ligand EDA-A2 and recruits TRAF proteins to activate the NF-kB pathway. The protein is predominantly expressed in ectodermal tissues during development and is essential for the formation of skin appendages.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDA2R Knockout HEK293 Cell Line | EDJ-KQ13252 | Human | 60401 | Details Get a Quote |
| EDA2R Knockout A-549 Cell Line | EDJ-KQ42654 | Human | 60401 | Details Get a Quote |
| EDA2R Knockout HeLa Cell Line | EDJ-KQ56975 | Human | 60401 | Details Get a Quote |
| EDA2R Knockout HCT 116 Cell Line | EDJ-KQ73917 | Human | 60401 | Details Get a Quote |
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