ADAM17 Chromosome 2
ADAM metallopeptidase domain 17
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What This Gene Does
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]
Gene Info
Gene Group
"ADAM metallopeptidase domain containing|CD molecules"
Locus Type
gene with protein product
Location
2p25.1
Ensembl
ENSG00000151694
Associated Conditions (6)
Inflammatory skin and bowel disease
neonatal
1
ADAM17-related disorder
Inborn genetic diseases
Neonatal inflammatory skin and bowel disease
Key Variants
RS1664299326
Conflicting classifications of pathogenicity
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS1664944582
Conflicting classifications of pathogenicity
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS372560151
Conflicting classifications of pathogenicity
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS578189296
Conflicting classifications of pathogenicity
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS77759270
Conflicting classifications of pathogenicity
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS1665281440
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2527387206
Likely pathogenic
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS2531193329
Likely pathogenic
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS2531219086
Likely pathogenic
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS1000050918
Pathogenic
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS1249324100
Pathogenic
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
RS1558514834
Pathogenic
Inflammatory skin and bowel disease, neonatal, 1
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1664299326 | Health Risk | Conflicting classifications of pathogenicity | Inflammatory skin and bowel disease, neonatal, 1 |
| RS1664944582 | Health Risk | Conflicting classifications of pathogenicity | Inflammatory skin and bowel disease, neonatal, 1 |
| RS372560151 | Health Risk | Conflicting classifications of pathogenicity | Inflammatory skin and bowel disease, neonatal, 1 |
| RS578189296 | Health Risk | Conflicting classifications of pathogenicity | Inflammatory skin and bowel disease, neonatal, 1 |
| RS77759270 | Health Risk | Conflicting classifications of pathogenicity | Inflammatory skin and bowel disease, neonatal, 1 |
| RS1665281440 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2527387206 | Health Risk | Likely pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS2531193329 | Health Risk | Likely pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS2531219086 | Health Risk | Likely pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS1000050918 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS1249324100 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS1558514834 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS1572897958 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS1662343008 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS1662434135 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS2124999155 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS2527328347 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS2527361700 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS2531170933 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS2531219268 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS387906866 | Health Risk | Pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |
| RS2531099938 | Health Risk | Pathogenic/Likely pathogenic | Inflammatory skin and bowel disease, neonatal, 1 |