EDARADD

Chr 1q42.3-q43

EDAR associated via death domain

Aliases:: CR
MANE:: ENST00000334232.9

OMIM: 606603 ↗NCBI: 128178 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

EDARADD · Q8WWZ3

v62025-08-01

Predicted Aligned Error matrix for EDARADD — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.8/ 100

Confident

215 residues

Confidence breakdown

Very high(≥ 90)42%
Confident(70–90)7%
Low(50–70)32%
Very low(< 50)20%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ectodermal dysplasia
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ectodermal dysplasia without a known gene mutation
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive hypohidrotic ectodermal dysplasia
0.76
hypohidrotic ectodermal dysplasia
0.69
autosomal dominant hypohidrotic ectodermal dysplasia
0.63
tooth agenesis
0.44
hypothyroidism
0.43
neurodegenerative disease
0.39
Oligodontia
0.38
myxedema
0.34
thyroid gland disorder
0.34
insomnia
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ectodysplasin-A receptor-associated adapter protein

Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B