ADAM30 Gene - ADAM Metallopeptidase Domain 30
Comprehensive genomic and functional analysis of ADAM30, a disintegrin and metalloproteinase domain-containing protein.
Gene Information Card
| Symbol | ADAM30 |
|---|---|
| Full Name | ADAM metallopeptidase domain 30 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p12 |
| NCBI Gene ID | 11085 ncbi.nlm.nih.gov/gene/11085 |
| Ensembl ID | ENSG00000115310 |
| UniProt ID | Q9UKF2 |
| OMIM ID | 604779 |
| HGNC ID | 213 |
| Aliases | ADAM 30, ADAM30P, disintegrin and metalloproteinase domain-containing protein 30 |
Description
ADAM30 (ADAM metallopeptidase domain 30) is a protein-coding gene located on chromosome 1p12. It encodes a member of the ADAM (a disintegrin and metalloprotease) family, which are transmembrane proteins involved in cell adhesion, migration, proteolysis, and signaling. ADAM30 is expressed in various tissues and has been implicated in Alzheimer disease and cancer. The protein contains a metalloprotease domain, a disintegrin domain, and a cytoplasmic tail. Alternative splicing results in multiple transcript variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | ADAM30 may modulate APP processing; reduced expression linked to increased amyloid-beta production | PMID: 22179788 |
| Breast cancer | ADAM30 overexpression associated with poor prognosis; may promote tumor cell migration and invasion | PMID: 23455478 |
| Gastric cancer | ADAM30 downregulation correlates with metastasis and worse survival | PMID: 25634892 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 2.3 | Low |
| Heart | 1.8 | Low |
| Liver | 0.9 | Not detected |
| Kidney | 1.5 | Low |
| Lung | 2.1 | Low |
| Testis | 4.7 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 3.2 | Embryonic kidney cells |
| HeLa | 2.8 | Cervical cancer cells |
| MCF7 | 4.1 | Breast cancer cells |
| A549 | 3.5 | Lung cancer cells |
| SH-SY5Y | 5.0 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.157G>A (p.Gly53Arg) | Missense | 0.01% | Unknown functional effect |
| c.1124C>T (p.Thr375Met) | Missense | 0.02% | Reported in Alzheimer disease cohort |
| c.1852_1853del (p.Leu618Glufs*2) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu618Glufs*2) likely cause loss of metalloprotease activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004222 - metalloendopeptidase activity | • GO:0008237 - metallopeptidase activity |
| • GO:0007155 - cell adhesion | • GO:0005886 - plasma membrane |
| • GO:0016021 - integral component of membrane | • GO:0006508 - proteolysis |
Pathways
• Alzheimer disease - amyloid-beta secretase pathway (Reactome: R-HSA-977225)
• ADAM-mediated ectodomain shedding (Reactome: R-HSA-5663205)
Protein Summary
ADAM30 is a transmembrane metalloprotease with a signal peptide, prodomain, metalloprotease domain, disintegrin domain, cysteine-rich region, EGF-like domain, transmembrane domain, and cytoplasmic tail. It is involved in ectodomain shedding of cell surface proteins, cell adhesion, and migration. The protein is expressed in brain, testis, and several cancer cell lines. Dysregulation of ADAM30 has been linked to Alzheimer disease and cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAM30 Knockout HEK293 Cell Line | EDJ-KQ6651 | Human | 11085 | Details Get a Quote |
| ADAM30 Knockout HeLa Cell Line | EDJ-KQ55566 | Human | 11085 | Details Get a Quote |
| ADAM30 Knockout A-549 Cell Line | EDJ-KQ64061 | Human | 11085 | Details Get a Quote |
| ADAM30 Knockout HCT 116 Cell Line | EDJ-KQ72512 | Human | 11085 | Details Get a Quote |
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