ADAM18
ADAM Metallopeptidase Domain 18
Gene Information Card
| Symbol | ADAM18 |
|---|---|
| Full Name | ADAM Metallopeptidase Domain 18 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.22 |
| NCBI Gene ID | 8749 ncbi.nlm.nih.gov/gene/8749 |
| Ensembl ID | ENSG00000168619 |
| UniProt ID | Q9Y3Q7 |
| OMIM ID | 607720 |
| HGNC ID | 192 |
| Aliases | ADAM 18, tMDCIII, ADAM27 |
Description
ADAM18 (ADAM Metallopeptidase Domain 18) is a protein-coding gene that belongs to the ADAM (a disintegrin and metalloprotease) family. The encoded protein is primarily expressed in the testis and is involved in sperm-egg fusion and fertilization. It contains a metalloprotease domain, a disintegrin domain, and a cysteine-rich region. ADAM18 is thought to play a role in cell adhesion and proteolysis during reproductive processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Impaired sperm-egg fusion due to ADAM18 dysfunction | OMIM: 607720; NCBI Gene |
| Non-obstructive azoospermia | Reduced or absent ADAM18 expression in testicular tissue | ClinVar; literature |
| Spermatogenic failure | Defective ADAM18-mediated cell adhesion | OMIM; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.8 | High |
| Fallopian tube | 0.5 | Low |
| Prostate | 0.3 | Low |
| Skin | 0.2 | Low |
| Lung | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular Leydig cells | N/A | Moderate expression |
| Sertoli cells | N/A | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; predicted to cause truncated protein |
| c.567G>A (p.Trp189*) | Nonsense | Rare | Loss of function; premature stop codon |
| c.890A>G (p.Tyr297Cys) | Missense | Unknown | Potential impact on disintegrin domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) lead to truncated, non-functional ADAM18 protein, impairing sperm-egg fusion.
Gain of Function (GOF)
No gain-of-function mutations reported for ADAM18.
Dominant Negative (DN)
No dominant-negative mutations reported for ADAM18.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004222 (metalloendopeptidase activity) | • GO:0007155 (cell adhesion) |
| • GO:0007338 (single fertilization) | • GO:0007342 (fusion of sperm to egg plasma membrane) |
| • GO:0008237 (metallopeptidase activity) | • GO:0016021 (integral component of membrane) |
Pathways
• Fertilization (Reactome: R-HSA-1187000)
• ADAM-mediated cell adhesion and proteolysis
Protein Summary
ADAM18 is a transmembrane protein predominantly expressed in testis and spermatozoa. It contains a signal peptide, a prodomain, a metalloprotease domain (catalytic), a disintegrin domain, a cysteine-rich region, an EGF-like domain, a transmembrane domain, and a cytoplasmic tail. The disintegrin domain mediates binding to integrins on the egg plasma membrane, facilitating sperm-egg fusion. The metalloprotease domain may be involved in proteolytic processing of extracellular matrix components. ADAM18 is essential for male fertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM18 Knockout HEK293 Cell Line | EDJ-KQ6348 | Human | 8749 | Details Get a Quote |
| ADAM18 Knockout HeLa Cell Line | EDJ-KQ54998 | Human | 8749 | Details Get a Quote |
| ADAM18 Knockout A-549 Cell Line | EDJ-KQ63482 | Human | 8749 | Details Get a Quote |
| ADAM18 Knockout HCT 116 Cell Line | EDJ-KQ71950 | Human | 8749 | Details Get a Quote |
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