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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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EDA2R
ectodysplasin A2 receptor
Chromosome X · Xq12
NCBI Gene: 60401Ensembl: ENSG00000131080.16HGNC: HGNC:17756UniProt: B2RBZ9
41PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transmembrane signaling receptor activityprotein bindingcytokine-mediated signaling pathwaypositive regulation of canonical NF-kappaB signal transductionX-linked hypohidrotic ectodermal dysplasiahypogonadismhypertensiontooth agenesis
✦AI Summary

EDA2R (ectodysplasin A2 receptor) is an X-linked transmembrane receptor that mediates activation of non-canonical and canonical NF-κB and JNK signaling pathways through binding to TRAF3 and TRAF6 1. The receptor specifically recognizes the EDA-A2 ligand isoform and is involved in ectodermal development and epidermal differentiation. Clinically, EDA2R has emerged as a central regulator in multiple disease states. Genetic variants in the EDA2R locus on the X-chromosome X a major genetic risk factor for androgenetic alopecia 2. More significantly, EDA2R-NIK signaling drives cancer-associated muscle atrophy through non-canonical NF-κB pathway activation; tumor-derived oncostatin M upregulates muscle EDA2R expression, and genetic deletion of EDA2R or NIK protects mice from cancer cachexia 3. Beyond cachexia, elevated EDA2R expression correlates with aging, inflammaging, and numerous age-related diseases including cardiovascular disease, dementia, Parkinson's disease, obesity, and diabetes 1. EDA2R also promotes muscle glucose intolerance and sarcopenia in aging and denervation contexts 4. Plasma EDA2R protein levels predict peripheral artery disease risk in type 2 diabetes patients 5. These findings identify EDA2R as both a biomarker of aging and active driver of catabolic processes, making it a promising therapeutic target for muscle wasting diseases and age-related pathologies.

Sources cited
1
EDA2R activates non-canonical and canonical NF-κB signaling, is a key regulator of inflammaging, and elevated expression correlates with multiple age-related diseases
PMID: 41185962
2
EDA2R locus on X-chromosome is a major genetic risk factor for androgenetic alopecia
PMID: 28349362
3
EDA2R-NIK signaling mediates cancer-associated muscle atrophy dependent on non-canonical NF-κB pathway; tumor-derived OSM upregulates muscle EDA2R; genetic deletion of EDA2R or NIK protects from muscle wasting
PMID: 37165186
4
Upregulated EDA2R expression in muscle tissue is associated with aging, denervation, cancer cachexia, and promotes muscle loss and glucose intolerance
PMID: 38443222
5
Plasma EDA2R protein levels are among top proteins associated with increased peripheral artery disease risk in type 2 diabetes patients
PMID: 39749935
6
EDA2R signaling is an emerging pathway regulating muscle atrophy in cancer cachexia and other muscle wasting disorders
PMID: 37596181
Disease Associationsⓘ20
X-linked hypohidrotic ectodermal dysplasiaOpen Targets
0.40Weak
hypogonadismOpen Targets
0.31Weak
hypertensionOpen Targets
0.31Weak
tooth agenesisOpen Targets
0.27Weak
HypodontiaOpen Targets
0.27Weak
response to xenobiotic stimulusOpen Targets
0.23Weak
neurodegenerative diseaseOpen Targets
0.23Weak
alopeciaOpen Targets
0.22Weak
pulmonary embolismOpen Targets
0.21Weak
androgenetic alopeciaOpen Targets
0.17Weak
type 2 diabetes mellitusOpen Targets
0.17Weak
diabetes mellitusOpen Targets
0.16Weak
Atrophy/Degeneration affecting the central nervous systemOpen Targets
0.15Weak
spinal muscular atrophyOpen Targets
0.14Weak
motor neuron diseaseOpen Targets
0.14Weak
response to statinOpen Targets
0.12Weak
gastric cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
cardiovascular diseaseOpen Targets
0.03Suggestive
Pathogenic Variants1
NM_021783.5(EDA2R):c.620del (p.Asn207fs)Likely pathogenic
Hypodontia
★☆☆☆→ Residue 207
View on ClinVar ↗
Related Genes
SLC24A5Protein interaction99%TRAF6Protein interaction98%TRAF3Protein interaction90%EDARShared pathway80%SLC45A2Protein interaction79%EDAProtein interaction73%
Tissue Expression6 tissues
Ovary
100%
Heart
35%
Lung
22%
Brain
7%
Liver
5%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
EDA2RSLC24A5TRAF6TRAF3EDARSLC45A2EDA
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9HAV5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.30 [0.95–1.80]
RankingsWhere EDA2R stands among ~20K protein-coding genes
  • #9,998of 20,598
    Most Researched41
  • #5,156of 5,498
    Most Pathogenic Variants1
  • #16,561of 17,882
    Most Constrained (LOEUF)1.80
Genes detectedEDA2R
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Androgenetic alopecia: a review.
PMID: 28349362
Endocrine · 2017
1.00
2
EDA2R-NIK signalling promotes muscle atrophy linked to cancer cachexia.
PMID: 37165186
Nature · 2023
0.90
3
EDA2R-NIK signaling in cancer cachexia.
PMID: 38801457
Curr Opin Support Palliat Care · 2024
0.80
4
Large-Scale Plasma Proteomics Improves Prediction of Peripheral Artery Disease in Individuals With Type 2 Diabetes: A Prospective Cohort Study.
PMID: 39749935
Diabetes Care · 2025
0.70
5
The Roles of EDA2R in Ageing and Disease.
PMID: 41185962
Aging Cell · 2025
0.60