ADAM7: A Disintegrin and Metalloproteinase Domain 7
Gene encoding a testis-specific metalloproteinase involved in sperm maturation and fertilization
Gene Information Card
| Symbol | ADAM7 |
|---|---|
| Full Name | ADAM metallopeptidase domain 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p21.2 |
| NCBI Gene ID | 8756 ncbi.nlm.nih.gov/gene/8756 |
| Ensembl ID | ENSG00000169213 |
| UniProt ID | Q9H2U9 |
| OMIM ID | 607660 |
| HGNC ID | 218 |
| Aliases | ADAM 7, ADAM metalloproteinase domain 7, disintegrin and metalloproteinase domain-containing protein 7 |
Description
ADAM7 (ADAM metallopeptidase domain 7) is a member of the ADAM (a disintegrin and metalloproteinase) family. The gene is located on chromosome 8p21.2 and encodes a protein that contains a signal peptide, a prodomain, a metalloproteinase domain, a disintegrin domain, a cysteine-rich region, and a transmembrane domain. ADAM7 is predominantly expressed in the testis and is involved in sperm maturation, sperm-egg fusion, and fertilization. The metalloproteinase domain may have proteolytic activity, while the disintegrin domain mediates cell-cell adhesion. Mutations in ADAM7 have been associated with male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss-of-function mutations in ADAM7 impair sperm-egg fusion and sperm maturation | ClinVar, OMIM |
| Non-obstructive azoospermia | Reduced or absent ADAM7 expression disrupts spermatogenesis | NCBI Gene, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Epididymis | 0.3 | Low |
| Other tissues | <0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | 15.0 | High expression in mature sperm |
| Testicular germ cells | 10.2 | Expressed in spermatids and spermatocytes |
| HeLa | 0.0 | No expression |
| HEK293 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Ter) | Nonsense | Rare | Premature stop codon, loss of protein function |
| c.1456G>A (p.Gly486Arg) | Missense | Rare | Potential disruption of disintegrin domain |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Loss of metalloproteinase domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent ADAM7 protein, impairing sperm-egg fusion and causing male infertility.
Gain of Function (GOF)
No gain-of-function mutations reported for ADAM7.
Dominant Negative (DN)
No dominant-negative mutations reported for ADAM7.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004222 - metalloendopeptidase activity | • GO:0008237 - metallopeptidase activity |
| • GO:0007155 - cell adhesion | • GO:0007338 - single fertilization |
| • GO:0007340 - acrosome reaction | • GO:0016021 - integral component of membrane |
| • GO:0005886 - plasma membrane |
Pathways
• Sperm-egg fusion pathway
• ADAM-mediated cell adhesion and proteolysis
Protein Summary
ADAM7 is a transmembrane protein primarily expressed in the testis and spermatozoa. It contains a metalloproteinase domain that may cleave extracellular matrix components and a disintegrin domain that mediates cell-cell adhesion during sperm-egg fusion. The protein is essential for male fertility, and loss-of-function mutations lead to spermatogenic failure and azoospermia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM7 Knockout HEK293 Cell Line | EDJ-KQ6351 | Human | 8756 | Details Get a Quote |
| ADAM7 Knockout HeLa Cell Line | EDJ-KQ54999 | Human | 8756 | Details Get a Quote |
| ADAM7 Knockout A-549 Cell Line | EDJ-KQ63483 | Human | 8756 | Details Get a Quote |
| ADAM7 Knockout HCT 116 Cell Line | EDJ-KQ71951 | Human | 8756 | Details Get a Quote |
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