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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.
EDAR
ectodysplasin A receptor
Chromosome 2 Β· 2q13
NCBI Gene: 10913Ensembl: ENSG00000135960.11HGNC: HGNC:2895UniProt: Q9UNE0
74PubMed Papers
22Diseases
0Drugs
93Pathogenic Variants
FUNCTIONAL ROLE
Receptor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcytokine-mediated signaling pathwaytransmembrane signaling receptor activityplasma membraneautosomal recessive hypohidrotic ectodermal dysplasiahypohidrotic ectodermal dysplasiaectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominantautosomal dominant hypohidrotic ectodermal dysplasia
✦AI Summary

EDAR (ectodysplasin A receptor) is a transmembrane receptor belonging to the TNF receptor superfamily that mediates critical signaling pathways essential for ectodermal organ development. EDAR specifically binds EDA isoform A1 (not A2) and signals predominantly through NF-ΞΊB and JNK pathways 1, with potential involvement in caspase-independent cell death. EDAR functions as a key component of the EDA/EDAR/NF-ΞΊB signaling cascade, which integrates with Wnt, Shh, and BMP pathways to regulate hair follicle morphogenesis, fingerprint ridge formation, and tooth development 23. During hair follicle development, EDAR signaling controls cell fate decisions in embryonic epidermis and regulates differentiation programs affecting hair initiation, shaft formation, and sebaceous gland morphology 1. Mutations in EDAR cause hypohidrotic ectodermal dysplasia (HED), characterized by defects in hair, teeth, and sweat glands 4. Additionally, an Asian-specific EDAR polymorphism (370V/A) influences tooth crown size and shoveling patterns, suggesting evolutionary selection 5. In pathological contexts, EDAR/NF-ΞΊB signaling contributes to psoriatic dermatitis through keratinocyte hyperproliferation and reduced apoptosis 6. EDAR thus represents a crucial developmental regulator with significant clinical relevance for ectodermal dysplasias and inflammatory skin diseases.

Sources cited
1
EDAR signaling proceeds through EDA/EDAR/NF-ΞΊB pathway and plays role in hair follicle morphogenesis
PMID: 24451143
2
EDAR signaling is part of Turing reaction-diffusion system controlling fingerprint ridge formation
PMID: 36764291
3
EDAR mutations cause non-syndromic tooth agenesis and hypohidrotic ectodermal dysplasia through EDA/EDAR/NF-ΞΊB pathway
PMID: 37077539
4
EDAR signals through NF-ΞΊB and JNK pathways and controls hair follicle development, cell fate, and differentiation
PMID: 16382675
5
EDAR is classified as death receptor in TNF-R superfamily with both apoptotic and non-apoptotic functions
PMID: 14585074
6
EDAR 370V/A polymorphism influences tooth crown size and shoveling patterns, suggesting evolutionary selection
PMID: 22648185
7
EDAR/NF-ΞΊB signaling in keratinocytes contributes to psoriatic dermatitis through promoting proliferation and reducing apoptosis
PMID: 37739945
Disease Associationsβ“˜22
autosomal recessive hypohidrotic ectodermal dysplasiaOpen Targets
0.83Strong
hypohidrotic ectodermal dysplasiaOpen Targets
0.81Strong
ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominantOpen Targets
0.77Strong
autosomal dominant hypohidrotic ectodermal dysplasiaOpen Targets
0.58Moderate
tooth agenesisOpen Targets
0.53Moderate
genetic disorderOpen Targets
0.45Moderate
OligodontiaOpen Targets
0.44Moderate
ectodermal dysplasia syndromeOpen Targets
0.44Moderate
Alpers syndromeOpen Targets
0.40Weak
mitochondrial DNA depletion syndrome 4aOpen Targets
0.40Weak
mitochondrial neurogastrointestinal encephalomyopathyOpen Targets
0.40Weak
androgenetic alopeciaOpen Targets
0.39Weak
neurodegenerative diseaseOpen Targets
0.34Weak
hair morphologyOpen Targets
0.32Weak
acneOpen Targets
0.30Weak
facial morphologyOpen Targets
0.29Weak
vascular diseaseOpen Targets
0.28Weak
Left bundle branch blockOpen Targets
0.27Weak
hyperpituitarismOpen Targets
0.27Weak
lobe attachmentOpen Targets
0.22Weak
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominantUniProt
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessiveUniProt
Pathogenic Variants93
NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)Pathogenic
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|not provided|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Non-syndromic oligodontia|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
β˜…β˜…β˜†β˜†2026β†’ Residue 358
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln)Pathogenic
Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|not provided|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
β˜…β˜…β˜†β˜†2026β†’ Residue 420
NM_022336.4(EDAR):c.1121G>A (p.Trp374Ter)Pathogenic
not provided|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 374
NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)Pathogenic
not provided|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 301
NM_022336.4(EDAR):c.266G>A (p.Arg89His)Pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant|Progressive sclerosing poliodystrophy;Mitochondrial DNA depletion syndrome 4b|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 89
NM_022336.4(EDAR):c.1073G>A (p.Arg358Gln)Pathogenic
not provided|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|EDAR-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 358
NM_022336.4(EDAR):c.730+1G>TPathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β˜…β˜…β˜†β˜†2024
NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome|not provided|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β˜…β˜…β˜†β˜†2024β†’ Residue 98
NM_022336.4(EDAR):c.1282T>C (p.Cys428Arg)Pathogenic
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 428
NM_022336.4(EDAR):c.442T>C (p.Cys148Arg)Likely pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β˜…β˜…β˜†β˜†2023β†’ Residue 148
NM_022336.4(EDAR):c.1144G>A (p.Gly382Ser)Pathogenic
not provided|Autosomal recessive hypohidrotic ectodermal dysplasia syndrome;Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant|Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β˜…β˜…β˜†β˜†2023β†’ Residue 382
NM_022336.4(EDAR):c.77C>T (p.Ala26Val)Pathogenic
Inborn genetic diseases|Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β˜…β˜…β˜†β˜†2023β†’ Residue 26
NM_022336.4(EDAR):c.719_722del (p.Lys240fs)Pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
β˜…β˜…β˜†β˜†2022β†’ Residue 240
NM_022336.4(EDAR):c.983del (p.Lys328fs)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 328
NM_022336.4(EDAR):c.52-25_52-8delLikely pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|Ectodermal dysplasia
β˜…β˜†β˜†β˜†2025
NM_022336.4(EDAR):c.93C>A (p.Cys31Ter)Likely pathogenic
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 31
NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 378
NM_022336.4(EDAR):c.1258C>T (p.Arg420Trp)Likely pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 420
NM_022336.4(EDAR):c.757del (p.Asp253fs)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 253
NM_022336.4(EDAR):c.1297G>T (p.Glu433Ter)Pathogenic
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant;Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 433
View on ClinVar β†—
Related Genes
TNFProtein interaction100%SLC24A5Protein interaction90%SLC45A2Protein interaction84%EDA2RShared pathway80%EDARADDProtein interaction74%EDAProtein interaction71%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
41%
Lung
7%
Brain
5%
Ovary
2%
Heart
0%
Gene Interaction Network
Click a node to explore
EDARTNFSLC24A5SLC45A2EDA2REDARADDEDA
PROTEIN STRUCTURE
Preparing viewer…
PDB7X9G Β· 2.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.93LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.55–0.93]
RankingsWhere EDAR stands among ~20K protein-coding genes
  • #6,391of 20,598
    Most Researched74
  • #826of 5,498
    Most Pathogenic Variants93 Β· top quartile
  • #8,547of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedEDAR
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Signaling involved in hair follicle morphogenesis and development.
PMID: 24451143
Int J Mol Sci Β· 2014
1.00
2
The developmental basis of fingerprint pattern formation and variation.
PMID: 36764291
Cell Β· 2023
0.90
3
The EDA/EDAR/NF-ΞΊB pathway in non-syndromic tooth agenesis: A genetic perspective.
PMID: 37077539
Front Genet Β· 2023
0.80
4
[Rickets-like genetic diseases].
PMID: 24229581
Zhongguo Dang Dai Er Ke Za Zhi Β· 2013
0.70
5
Death receptors.
PMID: 14585074
Essays Biochem Β· 2003
0.60