ADAM2: A Disintegrin and Metalloproteinase Domain 2
Key player in sperm-egg fusion and male fertility
Gene Information Card
| Symbol | ADAM2 |
|---|---|
| Full Name | ADAM metallopeptidase domain 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.22 |
| NCBI Gene ID | 2515 ncbi.nlm.nih.gov/gene/2515 |
| Ensembl ID | ENSG00000104755 |
| UniProt ID | Q99965 |
| OMIM ID | 601551 |
| HGNC ID | 198 |
| Aliases | PH-30b, PH30, fertilin beta |
Description
ADAM2 (ADAM metallopeptidase domain 2) encodes a member of the ADAM (a disintegrin and metalloproteinase) family. This protein is a subunit of fertilin, a sperm surface protein critical for sperm-egg plasma membrane adhesion and fusion. ADAM2 is expressed primarily in the testis and is essential for male fertility. The protein undergoes post-translational processing to become functional on the sperm surface.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (sperm-egg fusion defect) | ADAM2 mutations disrupt fertilin complex formation, impairing sperm-egg adhesion and fusion | ClinVar, OMIM |
| Asthenozoospermia | Reduced ADAM2 expression correlates with decreased sperm motility | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 28.5 | High |
| Fallopian tube | 0.2 | Not detected |
| Prostate | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatozoa | N/A | High expression in mature sperm |
| Testicular germ cells | N/A | Expressed in spermatids |
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; associated with infertility |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Truncated protein; impaired sperm-egg fusion |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ADAM2 lead to truncated or absent protein, disrupting fertilin function and causing infertility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described for ADAM2.
View complete mutation data：
Gene Ontology (GO)
| • sperm-egg fusion | • cell adhesion |
| • metallopeptidase activity | • integrin binding |
| • plasma membrane |
Pathways
• Fertilization pathway
• ADAM-mediated cell adhesion
Protein Summary
ADAM2 is a 735-amino acid transmembrane protein with a prodomain, metalloproteinase-like domain, disintegrin domain, cysteine-rich region, and EGF-like domain. It is synthesized as a precursor and cleaved during sperm maturation. The disintegrin domain binds to integrins on the egg plasma membrane, facilitating fusion. ADAM2 forms a heterodimer with ADAM1 (fertilin alpha) on the sperm surface.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM28 Knockout HEK293 Cell Line | EDJ-KQ3666 | Human | 10863 | Details Get a Quote |
| ADAM2 Knockout HEK293 Cell Line | EDJ-KQ4648 | Human | 2515 | Details Get a Quote |
| ADAM23 Knockout HEK293 Cell Line | EDJ-KQ6346 | Human | 8745 | Details Get a Quote |
| ADAM21 Knockout HEK293 Cell Line | EDJ-KQ6347 | Human | 8747 | Details Get a Quote |
| ADAM20 Knockout HEK293 Cell Line | EDJ-KQ6349 | Human | 8748 | Details Get a Quote |
| ADAM29 Knockout HEK293 Cell Line | EDJ-KQ7278 | Human | 11086 | Details Get a Quote |
| ADAM22 Knockout HEK293 Cell Line | EDJ-KQ11347 | Human | 53616 | Details Get a Quote |
| ADAM23 Knockout A-549 Cell Line | EDJ-KQ30296 | Human | 8745 | Details Get a Quote |
| ADAM23 Knockout HeLa Cell Line | EDJ-KQ30297 | Human | 8745 | Details Get a Quote |
| ADAM21 Knockout HCT 116 Cell Line | EDJ-KQ30298 | Human | 8747 | Details Get a Quote |
| ADAM22 Knockout HCT 116 Cell Line | EDJ-KQ39516 | Human | 53616 | Details Get a Quote |
| ADAM22 Knockout HeLa Cell Line | EDJ-KQ39517 | Human | 53616 | Details Get a Quote |
| ADAM2 Knockout HeLa Cell Line | EDJ-KQ53272 | Human | 2515 | Details Get a Quote |
| ADAM21 Knockout HeLa Cell Line | EDJ-KQ54996 | Human | 8747 | Details Get a Quote |
| ADAM20 Knockout HeLa Cell Line | EDJ-KQ54997 | Human | 8748 | Details Get a Quote |
Displaying Records 1 To 15 Of 28 Records
