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]
Transcription factors with Perturb-seq knockdown data for EDARADD. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = EDARADD upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of EDARADD, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr1:236,140,574–236,141,829 | 254.6 kb | Distal (>10kb) Multiome HiCAR | 321 | |
| chr1:236,141,986–236,143,622 | 252.9 kb | Distal (>10kb) Multiome HiCAR | 517 | |
| chr1:236,280,771–236,282,629 | 113.4 kb | Distal (>10kb) Multiome | 881 | |
| chr1:236,394,885–236,396,208 | 11 bp | At TSS Multiome | 588 | |
| chr1:236,400,215–236,400,535 | 4.8 kb | Proximal (<10kb) | 124 | |
| chr1:236,603,983–236,605,319 | 209.2 kb | Distal (>10kb) Multiome | 928 | |
| chr1:236,685,947–236,687,221 | 291.0 kb | Distal (>10kb) Multiome | 483 |
Genomic view of the EDARADD locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.