EDA Gene - Ectodysplasin A
Key regulator of ectodermal development and associated disorders
Gene Information Card
| Symbol | EDA |
|---|---|
| Full Name | Ectodysplasin A |
| Gene Type | protein-coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 1896 ncbi.nlm.nih.gov/gene/1896 |
| Ensembl ID | ENSG00000158813 |
| UniProt ID | Q92838 |
| OMIM ID | 300451 |
| HGNC ID | 3157 |
| Aliases | ED1, EDA1, HED, HED1, XLHED |
Description
The EDA gene encodes ectodysplasin A, a type II transmembrane protein belonging to the tumor necrosis factor (TNF) family. It is essential for the development of ectodermal-derived structures such as hair, teeth, and sweat glands. Mutations in EDA cause X-linked hypohidrotic ectodermal dysplasia (XLHED), characterized by sparse hair, missing teeth, and reduced sweating.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked hypohidrotic ectodermal dysplasia (XLHED) | Loss-of-function mutations impair EDA signaling via EDAR, disrupting ectodermal appendage development | ClinVar, OMIM |
| Tooth agenesis, selective | EDA variants reduce tooth germ formation, leading to missing permanent teeth | ClinVar |
| Ectodermal dysplasia, anhidrotic | Complete loss of EDA function prevents sweat gland formation, causing heat intolerance | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 0.0 | Not detected |
| Salivary gland | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HaCaT (keratinocyte) | 0.0 | Not expressed in this cell line |
| MCF7 (breast) | 0.0 | Not expressed |
| HEK293 (embryonic kidney) | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.467G>A (p.Arg156His) | Missense | Common | Reduced receptor binding; XLHED |
| c.526C>T (p.Arg176Cys) | Missense | Rare | Impaired protein folding; XLHED |
| c.1A>G (p.Met1?) | Start loss | Rare | Complete loss of protein; severe XLHED |
Mutation functional classification
Loss of Function (LOF)
Most EDA mutations are loss-of-function, leading to reduced or absent ectodysplasin A signaling, causing XLHED.
Gain of Function (GOF)
No gain-of-function mutations reported for EDA.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with receptor binding, though inheritance is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
| • tumor necrosis factor receptor binding | • cytokine activity |
| • extracellular region | • membrane |
| • positive regulation of NF-kappaB transcription factor activity | • ectodermal development |
Pathways
• TNF signaling pathway
• NF-kappa B signaling pathway
• Ectodermal development pathway
Protein Summary
Ectodysplasin A is a 391-amino-acid transmembrane protein with a C-terminal TNF homology domain. It is cleaved by furin to release a soluble ligand that binds to the EDAR receptor, activating NF-κB signaling. This pathway is critical for the formation of hair follicles, teeth, and sweat glands during embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EDA Knockout HEK293 Cell Line | EDJ-KQ561 | Human | 1896 | Details Get a Quote |
| EDAR Knockout HEK293 Cell Line | EDJ-KQ562 | Human | 10913 | Details Get a Quote |
| EDARADD Knockout HEK293 Cell Line | EDJ-KQ2676 | Human | 128178 | Details Get a Quote |
| EDA2R Knockout HEK293 Cell Line | EDJ-KQ13252 | Human | 60401 | Details Get a Quote |
| EDA Knockout HCT 116 Cell Line | EDJ-KQ18942 | Human | 1896 | Details Get a Quote |
| EDARADD Knockout A-549 Cell Line | EDJ-KQ23468 | Human | 128178 | Details Get a Quote |
| EDA2R Knockout A-549 Cell Line | EDJ-KQ42654 | Human | 60401 | Details Get a Quote |
| EDA Knockout HeLa Cell Line | EDJ-KQ53134 | Human | 1896 | Details Get a Quote |
| EDAR Knockout HeLa Cell Line | EDJ-KQ55524 | Human | 10913 | Details Get a Quote |
| EDA2R Knockout HeLa Cell Line | EDJ-KQ56975 | Human | 60401 | Details Get a Quote |
| EDARADD Knockout HeLa Cell Line | EDJ-KQ58225 | Human | 128178 | Details Get a Quote |
| EDA Knockout A-549 Cell Line | EDJ-KQ61607 | Human | 1896 | Details Get a Quote |
| EDAR Knockout A-549 Cell Line | EDJ-KQ64014 | Human | 10913 | Details Get a Quote |
| EDAR Knockout HCT 116 Cell Line | EDJ-KQ72465 | Human | 10913 | Details Get a Quote |
| EDA2R Knockout HCT 116 Cell Line | EDJ-KQ73917 | Human | 60401 | Details Get a Quote |
Displaying Records 1 To 15 Of 16 Records
