This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biologic processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded preproprotein is proteolytically processed to generate the mature protease. The encoded protease functions in the ectodomain shedding of tumor necrosis factor-alpha, in which soluble tumor necrosis factor-alpha is released from the membrane-bound precursor. This protease also functions in the processing of numerous other substrates, including cell adhesion proteins, cytokine and growth factor receptors and epidermal growth factor (EGF) receptor ligands, and plays a prominent role in the activation of the Notch signaling pathway. Elevated expression of this gene has been observed in specific cell types derived from psoriasis, rheumatoid arthritis, multiple sclerosis and Crohn's disease patients, suggesting that the encoded protein may play a role in autoimmune disease. Additionally, this protease may play a role in viral infection through its cleavage of ACE2, the cellular receptor for SARS-CoV and SARS-CoV-2. [provided by RefSeq, Aug 2020]
Transcription factors with Perturb-seq knockdown data for ADAM17. 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 = ADAM17 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 ADAM17, 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 |
|---|---|---|---|---|
| chr2:9,422,555–9,424,057 | 132.3 kb | Distal (>10kb) Multiome | 1016 | |
| chr2:9,473,505–9,475,238 | 81.1 kb | Distal (>10kb) Multiome | 602 | |
| chr2:9,475,498–9,477,288 | 79.0 kb | Distal (>10kb) Multiome | 228 | |
| chr2:9,554,934–9,556,567 | 86 bp | At TSS Multiome | 1091 | |
| chr2:9,630,002–9,631,663 | 75.3 kb | Distal (>10kb) Multiome | 995 | |
| chr2:9,770,260–9,771,096 | 214.9 kb | Distal (>10kb) Multiome | 321 | |
| chr2:9,813,714–9,814,312 | 258.2 kb | Distal (>10kb) Multiome | 406 | |
| chr2:9,843,034–9,844,039 | 287.7 kb | Distal (>10kb) Multiome | 965 |
Genomic view of the ADAM17 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.