EDARADD Gene
EDAR-associated death domain adaptor protein
Gene Information Card
| Symbol | EDARADD |
|---|---|
| Full Name | EDAR-associated death domain |
| Gene Type | protein-coding |
| Chromosomal Location | 1q42.3 |
| NCBI Gene ID | 128178 ncbi.nlm.nih.gov/gene/128178 |
| Ensembl ID | ENSG00000186197 |
| UniProt ID | Q8WWZ3 |
| OMIM ID | 606603 |
| HGNC ID | 14341 |
| Aliases | ECTD14A, ECTD14B, MGC71287 |
Description
EDARADD (EDAR-associated death domain) encodes an adaptor protein that interacts with the ectodysplasin A receptor (EDAR) via death domain homophilic interactions. This complex recruits TRAF family members and activates the NF-kB pathway, which is critical for the development of hair follicles, sweat glands, and teeth. Mutations in EDARADD cause autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypohidrotic ectodermal dysplasia (HED) | Loss-of-function mutations impair NF-kB signaling, disrupting ectodermal appendage development. | OMIM #614940, #224900 |
| Ectodermal dysplasia 14A (autosomal dominant) | Dominant-negative or haploinsufficient EDARADD variants reduce pathway activation. | OMIM #614940 |
| Ectodermal dysplasia 14B (autosomal recessive) | Biallelic loss-of-function mutations abolish EDARADD function. | OMIM #224900 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Salivary gland | 10.2 | Medium |
| Lung | 8.7 | Low |
| Kidney | 6.3 | Low |
| Testis | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocytes) | 15.3 | High expression |
| HEK293 | 8.9 | Moderate expression |
| A549 | 6.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.382C>T (p.Arg128*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.428G>A (p.Arg143His) | Missense | <0.01% | Impaired EDAR binding |
| c.1A>G (p.Met1?) | Start loss | <0.01% | No protein production |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants that truncate or abolish EDARADD protein.
Gain of Function (GOF)
Not reported for EDARADD.
Dominant Negative (DN)
Missense variants in the death domain that disrupt EDAR signaling while retaining interaction capacity.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-kB signaling pathway (Reactome R-HSA-73887)
• Ectodysplasin signaling (KEGG hsa04360)
Protein Summary
EDARADD is a 230-amino-acid adaptor protein containing a single C-terminal death domain. It bridges the EDAR receptor to downstream TRAF proteins, leading to NF-kB activation. The protein is predominantly expressed in ectodermal tissues and is essential for the formation of skin appendages.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDARADD Knockout HEK293 Cell Line | EDJ-KQ2676 | Human | 128178 | Details Get a Quote |
| EDARADD Knockout A-549 Cell Line | EDJ-KQ23468 | Human | 128178 | Details Get a Quote |
| EDARADD Knockout HeLa Cell Line | EDJ-KQ58225 | Human | 128178 | Details Get a Quote |
| EDARADD Knockout HCT 116 Cell Line | EDJ-KQ75124 | Human | 128178 | Details Get a Quote |
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