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Gene Gene information from NCBI Gene database.
Entrez ID 51321
Gene name Archaelysin family metallopeptidase 2
Gene symbol AMZ2
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17q24.2
Summary The protein encoded by this gene is a zinc metalloprotease that displays some activity against angiotensin-3. The encoded protein is inhibited by the aminopeptidase inhibitor amastatin, as well as by the general inhibitors o-phenanthroline and batimastat.
miRNA miRNA information provided by mirtarbase database.
29 Show/Hide all (29)
miRTarBase ID miRNA Experiments Reference
MIRT039424 hsa-miR-421 CLASH 23622248
MIRT780737 hsa-miR-1244 CLIP-seq
MIRT780738 hsa-miR-199a-3p CLIP-seq
MIRT780739 hsa-miR-199b-3p CLIP-seq
MIRT780740 hsa-miR-3129-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6 Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0005575 Component Cellular_component ND
GO:0006508 Process Proteolysis IEA
GO:0008233 Function Peptidase activity IEA
GO:0008237 Function Metallopeptidase activity IEA
GO:0016787 Function Hydrolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615169 28041 ENSG00000196704
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86W34
Protein name Archaemetzincin-2 (EC 3.4.-.-) (Archeobacterial metalloproteinase-like protein 2)
Protein function Probable zinc metalloprotease.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07998 Peptidase_M54 192 → 298 Peptidase family M54 Family
Tissue specificity TISSUE SPECIFICITY: Down-regulated in testis from patients with maturation arrest (MA) or Sertoli cell-only syndrome (SCOS). {ECO:0000269|PubMed:17074343}.
Sequence
MQIIRHSEQTLKTALISKNPVLVSQYEKLNAGEQRLMNEAFQPASDLFGPITLHSPSDWI
TSHPEAPQDFEQFFSDPYRKTPSPNKRSIYIQSIGSLGNTRIISEEYIKWLTGYCKAYFY
GLRVKLLEPVPVSVTRCSFRVNENTHNLQIHAGDILKFLKKKKPEDAFCVVGITMIDLYP
RDSWNFVFGQASLTDGVGIFSFARYGSDFYSMHYKGKVKKLKKTSSSDYSIFDNYYIPEI
TSVLLLRSCKTLTHEIGHIFGLRHCQWLACLMQGSNHLEEADRRPLNLCPICLHKLQC
AV
GFSIVERYKALVRWIDDESSDTPGATPEHSHEDNGNLPKPVEAFKEWKEWIIKCLAVLQK
Sequence length 360
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
AMZ2-related disorder Benign; Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Monoclonal B-Cell Lymphocytosis Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations