ADAM20
ADAM Metallopeptidase Domain 20
Gene Information Card
| Symbol | ADAM20 |
|---|---|
| Full Name | ADAM Metallopeptidase Domain 20 |
| Gene Type | protein-coding |
| Chromosomal Location | 14q24.1 |
| NCBI Gene ID | 8748 ncbi.nlm.nih.gov/gene/8748 |
| Ensembl ID | ENSG00000134007 |
| UniProt ID | O43506 |
| OMIM ID | 603710 |
| HGNC ID | 193 |
| Aliases | ADAM 20, disintegrin and metalloproteinase domain-containing protein 20, MDC3 |
Description
ADAM20 (ADAM Metallopeptidase Domain 20) encodes a member of the ADAM (a disintegrin and metalloprotease) family. This protein contains a metalloprotease domain, a disintegrin domain, and a cysteine-rich region. It is primarily expressed in the testis and is involved in sperm maturation, sperm-egg fusion, and fertilization. The metalloprotease activity may process extracellular matrix components or cell surface proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | ADAM20 is essential for sperm-egg fusion; loss of function may impair fertilization. | PMID: 10615129, OMIM 603710 |
| Prostate cancer | ADAM20 expression is upregulated in prostate cancer tissues and may promote tumor progression via proteolytic remodeling. | PMID: 22952446, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Prostate | 1.2 | Low |
| Lung | 0.8 | Low |
| Brain | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Low expression |
| HEK293 | 0.2 | Very low |
| LNCaP (prostate cancer) | 3.1 | Moderate expression |
| NTERA-2 (testicular embryonal carcinoma) | 8.4 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function; predicted to cause premature truncation |
| c.567G>A (p.Met189Ile) | Missense | 0.02% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*) lead to truncated protein lacking functional domains, impairing sperm-egg fusion.
Gain of Function (GOF)
Not reported for ADAM20.
Dominant Negative (DN)
Not reported for ADAM20.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004222 (metalloendopeptidase activity) | • GO:0007155 (cell adhesion) |
| • GO:0007338 (single fertilization) | • GO:0008237 (metallopeptidase activity) |
| • GO:0016021 (integral component of membrane) | • GO:0031012 (extracellular matrix) |
Pathways
• Fertilization (sperm-egg fusion)
• Proteolysis (extracellular matrix remodeling)
Protein Summary
ADAM20 is a transmembrane metalloprotease predominantly expressed in the testis. It contains a zinc-dependent metalloprotease domain, a disintegrin domain, and a cysteine-rich region. The protein is involved in sperm maturation and fertilization by mediating sperm-egg adhesion and fusion. Its proteolytic activity may also contribute to extracellular matrix remodeling in cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM20 Knockout HEK293 Cell Line | EDJ-KQ6349 | Human | 8748 | Details Get a Quote |
| ADAM20 Knockout HeLa Cell Line | EDJ-KQ54997 | Human | 8748 | Details Get a Quote |
| ADAM20 Knockout A-549 Cell Line | EDJ-KQ63481 | Human | 8748 | Details Get a Quote |
| ADAM20 Knockout HCT 116 Cell Line | EDJ-KQ71949 | Human | 8748 | Details Get a Quote |
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