AMZ2: Archaelysin Family Metallopeptidase 2
A mitochondrial metalloprotease with emerging roles in cellular homeostasis and disease
Gene Information Card
| Symbol | AMZ2 |
|---|---|
| Full Name | Archaelysin Family Metallopeptidase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q24.2 |
| NCBI Gene ID | 51321 ncbi.nlm.nih.gov/gene/51321 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9Y6N5 |
| OMIM ID | 615155 |
| HGNC ID | 24097 |
| Aliases | MGC13170, FLJ20291 |
Description
AMZ2 encodes a member of the archaelysin family of metallopeptidases. The protein localizes to mitochondria and is involved in proteolytic processing, potentially contributing to mitochondrial protein quality control. Its exact physiological substrates remain under investigation, but expression data suggest roles in cellular stress responses and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression; potential role in tumor progression via mitochondrial dysfunction | COSMIC; TCGA |
| Mitochondrial disorders (suspected) | Loss of proteolytic activity may impair mitochondrial homeostasis | Inferred from function; limited direct evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
| MCF7 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function |
| c.325C>T (p.Arg109Trp) | Missense | <0.01% | Unknown significance; rare population variant |
| c.674G>A (p.Arg225Gln) | Missense | <0.01% | Unknown significance; rare population variant |
Mutation functional classification
Loss of Function (LOF)
Predicted for truncating or start-loss variants; not experimentally confirmed.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • metallopeptidase activity (GO:0008237) | • zinc ion binding (GO:0008270) |
| • proteolysis (GO:0006508) | • mitochondrion (GO:0005739) |
Pathways
• Mitochondrial protein processing (Reactome: R-HSA-1268020)
Protein Summary
AMZ2 is a 476-amino acid mitochondrial metalloprotease containing a conserved zinc-binding motif. It is predicted to cleave peptide bonds in target proteins, contributing to mitochondrial proteostasis. Structural studies indicate a fold similar to archaelysin, but specific substrates and cellular pathways remain to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AMZ2 Knockout HEK293 Cell Line | EDJ-KQ11047 | Human | 51321 | Details Get a Quote |
| AMZ2 Knockout A-549 Cell Line | EDJ-KQ38958 | Human | 51321 | Details Get a Quote |
| AMZ2 Knockout HCT 116 Cell Line | EDJ-KQ38959 | Human | 51321 | Details Get a Quote |
| AMZ2 Knockout HeLa Cell Line | EDJ-KQ38960 | Human | 51321 | Details Get a Quote |
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