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. Defects in this gene may be associated with lung tumorigenesis. [provided by RefSeq, Oct 2016] See more...

Aliases for AMZ2 Gene

Aliases for AMZ2 Gene

  • Archaelysin Family Metallopeptidase 2 2 3 5
  • Archaemetzincin-2 2 3 4
  • Archeobacterial Metalloproteinase-Like Protein 2 3 4
  • Archaemetzincins-2 3
  • EC 3.4.-.- 4

External Ids for AMZ2 Gene

Previous GeneCards Identifiers for AMZ2 Gene

  • GC17P063756
  • GC17P066244
  • GC17P061630
  • GC17P068206
  • GC17P068265
  • GC17P068276
  • GC17P068278
  • GC17P068208
  • GC17P068220
  • GC17P068229
  • GC17P068241
  • GC17P068251

Summaries for AMZ2 Gene

Entrez Gene Summary for AMZ2 Gene

  • 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. Defects in this gene may be associated with lung tumorigenesis. [provided by RefSeq, Oct 2016]

GeneCards Summary for AMZ2 Gene

AMZ2 (Archaelysin Family Metallopeptidase 2) is a Protein Coding gene. Diseases associated with AMZ2 include Deafness, Autosomal Dominant 41 and Dubowitz Syndrome. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity. An important paralog of this gene is AMZ1.

UniProtKB/Swiss-Prot Summary for AMZ2 Gene

  • Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze either neurogranin or angiotensin-2.

Additional gene information for AMZ2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMZ2 Gene

Genomics for AMZ2 Gene

GeneHancer (GH) Regulatory Elements for AMZ2 Gene

Promoters and enhancers for AMZ2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J068204 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.2 204 3.6 ZBTB40 ZNF217 CTCF TCF12 NRF1 USF1 POLR2G GTF2E2 PHF8 TEAD4 AMZ2 ENSG00000274712 lnc-AMZ2-5 ARHGAP27P2 WIPI1 ENSG00000267731 LINC00674
GH17J068246 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 524.7 +42.7 42668 3.8 ZNF217 EP300 NRF1 USF1 POLR2G SP1 PHF8 ZFX ZIC2 ZBTB10 AMZ2 ENSG00000265100 NONHSAG022592.2 NOL11 BPTF ABCA9 WIPI1 ENSG00000267731 ARSG
GH17J068252 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 22.8 +50.4 50442 9.3 ZFX ZIC2 ZBTB26 RELA ATF2 HDAC3 NCOR1 SIN3A SALL2 TCF12 ARSG AMZ2 WIPI1 MIR635 BPTF NONHSAG022592.2
GH17J068287 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.5 +84.4 84360 6.2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A MYC NRF1 POLR2G USF1 SLC16A6 ARSG AMZ2 BPTF NOL11 PRKAR1A piR-42491-100
GH17J068262 Enhancer 0.9 ENCODE dbSUPER 22 +57.3 57295 0.7 CTCF RAD21 TRIM22 TEAD1 SMC3 MIER3 ELF1 ZGPAT ZNF654 STAT1 AMZ2 ARSG WIPI1 MIR635 lnc-AMZ2-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMZ2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMZ2

Top Transcription factor binding sites by QIAGEN in the AMZ2 gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Fos
  • NF-E2
  • NF-E2 p45
  • RORalpha1
  • RORalpha2
  • SRF
  • SRF (504 AA)

Genomic Locations for AMZ2 Gene

Genomic Locations for AMZ2 Gene
chr17:68,205,997-68,257,164
(GRCh38/hg38)
Size:
51,168 bases
Orientation:
Plus strand
chr17:66,243,715-66,253,305
(GRCh37/hg19)
Size:
9,591 bases
Orientation:
Plus strand

Genomic View for AMZ2 Gene

Genes around AMZ2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMZ2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMZ2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMZ2 Gene

Proteins for AMZ2 Gene

  • Protein details for AMZ2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86W34-AMZ2_HUMAN
    Recommended name:
    Archaemetzincin-2
    Protein Accession:
    Q86W34
    Secondary Accessions:
    • A6NLD9
    • B3KR44
    • Q5XKF1
    • Q9NZE2

    Protein attributes for AMZ2 Gene

    Size:
    360 amino acids
    Molecular mass:
    41263 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF64270.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=AAF64270.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for AMZ2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AMZ2 Gene

Post-translational modifications for AMZ2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AMZ2 Gene

Domains & Families for AMZ2 Gene

Gene Families for AMZ2 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AMZ2 Gene

Blocks:
  • Peptidase predicted, zinc-dependent
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AMZ2 Gene

GenScript: Design optimal peptide antigens:
  • Archeobacterial metalloproteinase-like protein 2 (AMZ2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86W34

UniProtKB/Swiss-Prot:

AMZ2_HUMAN :
  • Belongs to the peptidase M54 family.
Family:
  • Belongs to the peptidase M54 family.
genes like me logo Genes that share domains with AMZ2: view

Function for AMZ2 Gene

Molecular function for AMZ2 Gene

UniProtKB/Swiss-Prot Function:
Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze either neurogranin or angiotensin-2.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the general metalloprotease inhibitors o-phenanthroline and batimastat. Also significantly inhibited by amastatin, which is an inhibitor of aminopeptidases. Not inhibited by 4-(2-aminoethyl)-benzenesulfonyl fluoride, E-64, and TIMPS (tissue inhibitors of metalloproteinases), which are inhibitors of serine, cysteine, and matrix metalloproteases, respectively.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 7.0. {ECO:0000269 PubMed:15972818};

Enzyme Numbers (IUBMB) for AMZ2 Gene

Phenotypes From GWAS Catalog for AMZ2 Gene

Gene Ontology (GO) - Molecular Function for AMZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMZ2: view
genes like me logo Genes that share phenotypes with AMZ2: view

Animal Models for AMZ2 Gene

MGI Knock Outs for AMZ2:
  • Amz2 Amz2<tm1e(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for AMZ2 Gene

miRTarBase miRNAs that target AMZ2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMZ2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AMZ2 Gene

Localization for AMZ2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AMZ2 gene
Compartment Confidence
nucleus 3
cytosol 3
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
  • Nuclear bodies (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for AMZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with AMZ2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for AMZ2 Gene

Pathways & Interactions for AMZ2 Gene

PathCards logo

SuperPathways for AMZ2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AMZ2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with AMZ2: view

No data available for Pathways by source and SIGNOR curated interactions for AMZ2 Gene

Drugs & Compounds for AMZ2 Gene

No Compound Related Data Available

Transcripts for AMZ2 Gene

mRNA/cDNA for AMZ2 Gene

23 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMZ2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AMZ2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1: - - - -
SP2:
SP3: - - - - - - -
SP4: - - - - - - -
SP5: - - - - -
SP6: - - -
SP7: - -
SP8:
SP9: -
SP10: - - - - - -

Relevant External Links for AMZ2 Gene

GeneLoc Exon Structure for
AMZ2

Expression for AMZ2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMZ2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for AMZ2 Gene

This gene is overexpressed in Testis (31.1), Ovary (14.6), and Fetal Brain (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AMZ2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMZ2

SOURCE GeneReport for Unigene cluster for AMZ2 Gene:

Hs.293560

mRNA Expression by UniProt/SwissProt for AMZ2 Gene:

Q86W34-AMZ2_HUMAN
Tissue specificity: Predominantly expressed in heart and testis. Also expressed at lower levels in kidney, liver, pancreas, lung, brain and placenta. Expressed in fetal tissues such as kidney, liver, lung and brain. Down-regulated in testis from patients with maturation arrest (MA) or Sertoli cell-only syndrome (SCOS).

Evidence on tissue expression from TISSUES for AMZ2 Gene

  • Nervous system(4.9)
  • Bone marrow(4.3)
  • Lung(4.3)
  • Blood(4.2)
  • Skin(2.5)
genes like me logo Genes that share expression patterns with AMZ2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AMZ2 Gene

Orthologs for AMZ2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMZ2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AMZ2 31
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AMZ2 31 30
  • 88.89 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Amz2 17 31 30
  • 81.62 (n)
cow
(Bos Taurus)
Mammalia AMZ2 31 30
  • 80.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Amz2 30
  • 79.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AMZ2 31
  • 58 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AMZ2 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100494774 30
  • 62.86 (n)
zebrafish
(Danio rerio)
Actinopterygii AMZ2 (2 of 2) 31
  • 51 (a)
OneToMany
AMZ2 (1 of 2) 31
  • 41 (a)
OneToMany
Species where no ortholog for AMZ2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AMZ2 Gene

ENSEMBL:
Gene Tree for AMZ2 (if available)
TreeFam:
Gene Tree for AMZ2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AMZ2: view image

Paralogs for AMZ2 Gene

Paralogs for AMZ2 Gene

(2) SIMAP similar genes for AMZ2 Gene using alignment to 9 proteins:

  • AMZ2_HUMAN
  • J3KRD0_HUMAN
  • J3KRS2_HUMAN
  • J3KS38_HUMAN
  • J3KSH1_HUMAN
  • J3KTM1_HUMAN
  • J3QL25_HUMAN
  • J3QLK6_HUMAN
  • J3QQR3_HUMAN

Pseudogenes.org Pseudogenes for AMZ2 Gene

genes like me logo Genes that share paralogs with AMZ2: view

Variants for AMZ2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMZ2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs782698957 Uncertain Significance: Monoclonal B-Cell Lymphocytosis 68,251,113(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
rs3207194 - p.His146Gln
rs3213690 - p.Asn30Asp

Additional dbSNP identifiers (rs#s) for AMZ2 Gene

Structural Variations from Database of Genomic Variants (DGV) for AMZ2 Gene

Variant ID Type Subtype PubMed ID
esv2716143 CNV deletion 23290073
esv2716144 CNV deletion 23290073
esv2716145 CNV deletion 23290073
esv2716146 CNV deletion 23290073
nsv1116234 CNV deletion 24896259
nsv960148 CNV duplication 23825009

Variation tolerance for AMZ2 Gene

Residual Variation Intolerance Score: 59.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMZ2 Gene

Human Gene Mutation Database (HGMD)
AMZ2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMZ2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMZ2 Gene

Disorders for AMZ2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for AMZ2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
deafness, autosomal dominant 41
  • dfna41
dubowitz syndrome
  • dubowitz's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AMZ2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMZ2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AMZ2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMZ2 Gene

Publications for AMZ2 Gene

  1. Identification and characterization of human archaemetzincin-1 and -2, two novel members of a family of metalloproteases widely distributed in Archaea. (PMID: 15972818) Díaz-Perales A … López-Otín C (The Journal of biological chemistry 2005) 2 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 3 4 54

Products for AMZ2 Gene

Sources for AMZ2 Gene