EDARADD

Chr 1

EDAR associated via death domain

Also known as: CR, ECTD11A, ECTD11B, ED3, EDA3

NCBI Gene: 128178ENSG00000186197UniProt: Q8WWZ3

This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEctodermal dysplasia 11A, hypohidrotic/hair/nail type, autosomal dominant
UniProtEctodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive
0
Active trials
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.15
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — EDARADD
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.15LOEUF
pLI 0.000
Z-score 1.21
OE 0.61 (0.35–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.14Z-score
OE missense 0.72 (0.60–0.85)
91 obs / 127.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.61 (0.35–1.15)
0≤0.351.4
Missense OE?0.72 (0.60–0.85)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 7 / 11.4Missense obs/exp: 91 / 127.3Syn Z: 0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EDARADD · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients