HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EDA
ectodysplasin A
Chromosome X Β· Xq13.1
NCBI Gene: 1896Ensembl: ENSG00000158813.18HGNC: HGNC:3157UniProt: A0A0U5J797
142PubMed Papers
22Diseases
0Drugs
289Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytokine-mediated signaling pathwayodontogenesis of dentin-containing toothpositive regulation of canonical NF-kappaB signal transductionprotein bindingX-linked hypohidrotic ectodermal dysplasiatooth agenesis, selective, X-linked, 1ectodermal dysplasia syndrometooth agenesis
✦AI Summary

EDA (ectodysplasin A) encodes a TNF family cytokine that plays a crucial role in ectodermal development, particularly in the formation of skin appendages including teeth, hair, and sweat glands 1. The protein exists in two isoforms, EDA-A1 and EDA-A2, which bind to different receptors (EDAR and XEDAR respectively) to activate downstream signaling pathways 2. EDA functions as an important effector of canonical Wnt signaling in developing skin appendages, stimulating NF-ΞΊB-mediated transcription of various pathway regulators including Sonic hedgehog, FGF, and TGFΞ² 1. The signaling cascade regulates epithelial-mesenchymal cell interactions critical for organ morphogenesis and differentiation 2. Mutations in EDA or its signaling pathway components cause hypohidrotic ectodermal dysplasia (HED), characterized by absent or malformed teeth, sparse hair, defective sweat glands, and associated complications like heat intolerance and increased infection susceptibility 13. X-linked mutations in EDA represent the most common form of ectodermal dysplasia 3. Therapeutic approaches using recombinant EDA1 replacement protein (Fc-EDA) have shown promise in clinical trials, particularly when administered prenatally 4, suggesting potential for correcting this developmental disorder.

Sources cited
1
EDA is a TNF family ligand regulating skin appendage development and activating NF-ΞΊB signaling as part of Wnt pathway
PMID: 24508088
2
EDA exists as two isoforms (EDA-A1 and EDA-A2) binding different receptors and regulating ectodermal organ development
PMID: 12787560
3
EDA mutations cause hypohidrotic ectodermal dysplasia with characteristic features including hypohidrosis, sparse hair, and oligodontia
PMID: 19061621
4
Recombinant EDA1 replacement therapy (Fc-EDA) shows safety and efficacy in clinical trials, particularly with prenatal administration
PMID: 32250462
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜22
X-linked hypohidrotic ectodermal dysplasiaOpen Targets
0.86Strong
tooth agenesis, selective, X-linked, 1Open Targets
0.80Strong
ectodermal dysplasia syndromeOpen Targets
0.56Moderate
tooth agenesisOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.51Moderate
Anhidrotic ectodermal dysplasiaOpen Targets
0.50Moderate
hypohidrotic ectodermal dysplasiaOpen Targets
0.48Moderate
OligodontiaOpen Targets
0.46Moderate
odontogenesisOpen Targets
0.41Moderate
Selective tooth agenesisOpen Targets
0.37Weak
genetic disorderOpen Targets
0.37Weak
tooth agenesis, selective, 2Open Targets
0.34Weak
HypodontiaOpen Targets
0.34Weak
tooth eruptionOpen Targets
0.27Weak
asphyxiating thoracic dystrophy 3Open Targets
0.27Weak
short rib-polydactyly syndrome, Majewski typeOpen Targets
0.27Weak
rheumatoid arthritisOpen Targets
0.18Weak
osteoarthritisOpen Targets
0.17Weak
lobe attachmentOpen Targets
0.12Weak
ringed hair diseaseOpen Targets
0.12Weak
Ectodermal dysplasia 1, hypohidrotic, X-linkedUniProt
Tooth agenesis, selective, X-linked, 1UniProt
Pathogenic Variants289
NM_001399.5(EDA):c.467G>A (p.Arg156His)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided|Tooth agenesis, selective, X-linked, 1;Hypohidrotic X-linked ectodermal dysplasia|Ectodermal dysplasia
β˜…β˜…β˜†β˜†2026β†’ Residue 156
NM_001399.5(EDA):c.1069C>T (p.Arg357Trp)Pathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|EDA-related disorder|See cases
β˜…β˜…β˜†β˜†2026β†’ Residue 357
NM_001399.5(EDA):c.612_629del (p.202_204IPG[1])Pathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|Tooth agenesis, selective, X-linked, 1
β˜…β˜…β˜†β˜†2026
NM_001399.5(EDA):c.1045G>A (p.Ala349Thr)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 349
NM_001399.5(EDA):c.553_588del (p.Asn185_Pro196del)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 185
NM_001399.5(EDA):c.619G>A (p.Gly207Arg)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 207
NM_001399.5(EDA):c.1094T>C (p.Val365Ala)Pathogenic
Hypodontia|Hypohidrotic X-linked ectodermal dysplasia|Inborn genetic diseases|not provided|Tooth agenesis, selective, X-linked, 1|EDA-related disorder|Hypohidrotic X-linked ectodermal dysplasia;Tooth agenesis, selective, X-linked, 1
β˜…β˜…β˜†β˜†2025β†’ Residue 365
NM_001399.5(EDA):c.457C>T (p.Arg153Cys)Pathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|Anhidrotic ectodermal dysplasia|Thyroid cancer, nonmedullary, 1|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2025β†’ Residue 153
NM_001399.5(EDA):c.707-13T>GPathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|EDA-related disorder
β˜…β˜…β˜†β˜†2025
NM_001399.5(EDA):c.463C>T (p.Arg155Cys)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided|Tooth agenesis, selective, X-linked, 1;Hypohidrotic X-linked ectodermal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 155
NM_001399.5(EDA):c.1116C>G (p.Asn372Lys)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 372
NM_001399.5(EDA):c.181T>C (p.Tyr61His)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|Tooth agenesis, selective, X-linked, 1;Hypohidrotic X-linked ectodermal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 61
NM_001399.5(EDA):c.866G>A (p.Arg289His)Pathogenic
Hypodontia|Hypohidrotic X-linked ectodermal dysplasia|Hypohidrotic X-linked ectodermal dysplasia;Tooth agenesis, selective, X-linked, 1|Anhidrotic ectodermal dysplasia|not provided|Ectodermal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 289
NC_000023.11:g.70027993_70028027delPathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia
β˜…β˜…β˜†β˜†2025
NC_000023.11:g.70027902_70027919delPathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia|EDA-related disorder|Tooth agenesis, selective, X-linked, 1
β˜…β˜…β˜†β˜†2025
NM_001399.5(EDA):c.706+1G>APathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia
β˜…β˜…β˜†β˜†2025
NM_001399.5(EDA):c.466C>T (p.Arg156Cys)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia|not provided|EDA-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 156
NM_001399.5(EDA):c.917A>G (p.Gln306Arg)Pathogenic
not provided|Hypohidrotic X-linked ectodermal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 306
NM_001399.5(EDA):c.754C>T (p.His252Tyr)Pathogenic
Hypohidrotic X-linked ectodermal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 252
NM_001399.5(EDA):c.865C>T (p.Arg289Cys)Pathogenic
Tooth agenesis, selective, X-linked, 1|Hypohidrotic X-linked ectodermal dysplasia
β˜…β˜…β˜†β˜†2025β†’ Residue 289
View on ClinVar β†—
Related Genes
WNT10AProtein interaction92%PAX9Protein interaction86%EDARADDProtein interaction74%EDA2RProtein interaction73%PLNProtein interaction73%EDARProtein interaction71%
Tissue Expression6 tissues
Heart
100%
Ovary
74%
Lung
38%
Liver
21%
Brain
10%
Bone Marrow
6%
Gene Interaction Network
Click a node to explore
EDAWNT10APAX9EDARADDEDA2RPLNEDAR
PROTEIN STRUCTURE
Preparing viewer…
PDB1RJ8 Β· 2.23 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.27Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.08 [0.03–0.27]
RankingsWhere EDA stands among ~20K protein-coding genes
  • #3,218of 20,598
    Most Researched142 Β· top quartile
  • #214of 5,498
    Most Pathogenic Variants289 Β· top 5%
  • #892of 17,882
    Most Constrained (LOEUF)0.27 Β· top 5%
Genes detectedEDA
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Ectodysplasin A (EDA) - EDA receptor signalling and its pharmacological modulation.
PMID: 24508088
Cytokine Growth Factor Rev Β· 2014
1.00
2
Targeting alternative splicing of fibronectin in human renal proximal tubule epithelial cells with antisense oligonucleotides to reduce EDA+ fibronectin production and block an autocrine loop that drives renal fibrosis.
PMID: 39098465
Exp Cell Res Β· 2024
0.90
3
The artificial intelligence advantage: Supercharging exploratory data analysis.
PMID: 39082872
Knee Surg Sports Traumatol Arthrosc Β· 2024
0.80
4
Ectodysplasin signaling in development.
PMID: 12787560
Cytokine Growth Factor Rev Β· 2003
0.70
5
Hypohidrotic ectodermal dysplasia.
PMID: 19061621
Dermatol Online J Β· 2008
0.60