ADAM29 Gene - A Disintegrin and Metalloproteinase Domain 29
ADAM29: Structure, Function, and Disease Associations
Gene Information Card
| Symbol | ADAM29 |
|---|---|
| Full Name | ADAM metallopeptidase domain 29 |
| Gene Type | protein-coding |
| Chromosomal Location | 4q34.1 |
| NCBI Gene ID | 11186 ncbi.nlm.nih.gov/gene/11186 |
| Ensembl ID | ENSG00000138698 |
| UniProt ID | Q9UKF5 |
| OMIM ID | 604779 |
| HGNC ID | 207 |
| Aliases | ADAM 29, ADAM23, MDC3, SVPH1 |
Description
ADAM29 (ADAM metallopeptidase domain 29) is a member of the ADAM (a disintegrin and metalloproteinase) family. It encodes a transmembrane protein involved in cell-cell and cell-matrix interactions, with a metalloproteinase domain that may be catalytically inactive due to a missing catalytic site. ADAM29 is predominantly expressed in testis and plays a role in spermatogenesis. Mutations and altered expression have been reported in various cancers, including melanoma and lung cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Melanoma | ADAM29 overexpression may promote tumor cell migration and invasion via integrin signaling. | COSMIC; PMID: 20628086 |
| Lung cancer | Somatic mutations in ADAM29 have been identified in non-small cell lung cancer, potentially affecting cell adhesion. | COSMIC; PMID: 22980975 |
| Male infertility | Reduced ADAM29 expression in testis may impair sperm-egg fusion. | OMIM 604779; PMID: 11781295 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Prostate | 2.1 | Low |
| Lung | 1.5 | Low |
| Skin | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NCI-H1299 (lung cancer) | 3.4 | Moderate expression |
| A375 (melanoma) | 6.7 | High expression |
| HEK293 (embryonic kidney) | 0.2 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123G>A (p.Gly375Arg) | Missense | 0.02% (COSMIC) | Unknown functional effect |
| c.1456C>T (p.Arg486Trp) | Missense | 0.01% (COSMIC) | Predicted damaging by SIFT |
| c.789_790insA (p.Leu264fs) | Frameshift | 0.005% (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu264fs) likely result in truncated, non-functional protein.
Gain of Function (GOF)
Not well characterized; missense mutations may alter substrate specificity but no clear gain-of-function reported.
Dominant Negative (DN)
No evidence for dominant-negative effects in ADAM29.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004222 - metalloendopeptidase activity | • GO:0007155 - cell adhesion |
| • GO:0005886 - plasma membrane | • GO:0007283 - spermatogenesis |
| • GO:0008237 - metallopeptidase activity |
Pathways
• Integrin signaling pathway (Reactome: R-HSA-446728)
• ADAM-mediated cell adhesion (KEGG: hsa04512)
Protein Summary
ADAM29 is a 789-amino acid transmembrane protein with a prodomain, metalloproteinase-like domain (catalytically inactive), disintegrin domain, cysteine-rich region, and EGF-like domain. It is primarily expressed in testis and localizes to the plasma membrane. The protein is involved in sperm-egg fusion and cell adhesion. Despite lacking catalytic activity, the disintegrin domain mediates interactions with integrins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM29 Knockout HEK293 Cell Line | EDJ-KQ7278 | Human | 11086 | Details Get a Quote |
| ADAM29 Knockout HeLa Cell Line | EDJ-KQ55567 | Human | 11086 | Details Get a Quote |
| ADAM29 Knockout A-549 Cell Line | EDJ-KQ64062 | Human | 11086 | Details Get a Quote |
| ADAM29 Knockout HCT 116 Cell Line | EDJ-KQ72513 | Human | 11086 | Details Get a Quote |
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