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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AMZ2 Gene

protein-coding   GIFtS: 50
GCID: GC17P066244

Archaelysin Family Metallopeptidase 2

  Search for AMZ2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Archaelysin Family Metallopeptidase 21 2
archaemetzincin-21 2
Archeobacterial Metalloproteinase-Like Protein 22 3
archaemetzincins-22
EC 3.4.-.-3

External Ids:    HGNC: 280411   Entrez Gene: 513212   Ensembl: ENSG000001967047   OMIM: 6151695   UniProtKB: Q86W343   

Export aliases for AMZ2 gene to outside databases

Previous GC identifers: GC17P063756 GC17P061630


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for AMZ2 Gene: 
AMZ2 (archaelysin family metallopeptidase 2) is a protein-coding gene. GO annotations related to this gene include metallopeptidase activity and zinc ion binding. An important paralog of this gene is AMZ1.

UniProtKB/Swiss-Prot: AMZ2_HUMAN, Q86W34
Function: Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze either
neurogranin or angiotensin-2




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AMZ2 gene promoter:
         c-Fos   SRF   AP-1   ATF-2   SRF (504 AA)   NF-E2 p45   RORalpha2   AREB6   RORalpha1   NF-E2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for AMZ2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AMZ2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q24.2   Ensembl cytogenetic band:  17q24.2   HGNC cytogenetic band: 17q24.2

AMZ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMZ2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P066244:  view genomic region     (about GC identifiers)

Start:
66,243,715 bp from pter      End:
66,253,305 bp from pter
Size:
9,591 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AMZ2_HUMAN, Q86W34 (See protein sequence)
Recommended Name: Archaemetzincin-2  
Size: 360 amino acids; 41263 Da
Cofactor: Binds 2 zinc ions per subunit. One is catalytic, whereas the other seems to have a structural role (By
similarity)
Sequence caution: Sequence=AAF64270.1; Type=Erroneous termination; Positions=98; Note=Translated as Gly;
Sequence=AAF64270.1; Type=Frameshift; Positions=55;
Secondary accessions: A6NLD9 B3KR44 Q5XKF1 Q9NZE2
Alternative splicing: 2 isoforms:  Q86W34-4   Q86W34-5   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for AMZ2: NX_Q86W34

Explore proteomics data for AMZ2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86W34

  • AMZ2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    AMZ2 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_001028741.1  NP_001028742.1  NP_001028743.1  NP_001028744.1  NP_001028746.1  NP_057711.3  

    ENSEMBL proteins: 
     ENSP00000352976   ENSP00000462484   ENSP00000463012   ENSP00000376481   ENSP00000352831  
     ENSP00000463053   ENSP00000463596   ENSP00000461935   ENSP00000462292   ENSP00000464133  
     ENSP00000464635   ENSP00000462140   ENSP00000463344   ENSP00000463857  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR024079 MetalloPept_cat_dom
     IPR012962 Pept_M54_archaemetzincn

    Graphical View of Domain Structure for InterPro Entry Q86W34

    ProtoNet protein and cluster: Q86W34

    1 Blocks protein domain: IPB012962 Peptidase predicted

    UniProtKB/Swiss-Prot: AMZ2_HUMAN, Q86W34
    Similarity: Belongs to the peptidase M54 family


    AMZ2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMZ2_HUMAN, Q86W34
    Function: Zinc metalloprotease. Exhibits activity against angiotensin-3 in vitro. Does not hydrolyze either
    neurogranin or angiotensin-2
    Enzyme regulation: 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
    Biophysicochemical properties: pH dependence: Optimum pH is 7.0;

         Enzyme Number (IUBMB): EC 3.4.-.-1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008237metallopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    AMZ2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for AMZ2:
     Increased Salmonella enterica  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for AMZ2 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AMZ2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for AMZ2 (ENSP000003529764) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--

    AMZ2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AMZ2

    Search CenterWatch for drugs/clinical trials and news about AMZ2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for AMZ2 gene (6 alternative transcripts): 
    NM_001033569.1  NM_001033570.1  NM_001033571.1  NM_001033572.1  NM_001033574.1  NM_016627.4  

    Unigene Cluster for AMZ2:

    Archaelysin family metallopeptidase 2
    Hs.293560  [show with all ESTs]
    Unigene Representative Sequence: AK126146
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359904(uc002jgt.1 uc002jgs.1 uc002jgr.1 uc002jgu.1 uc002jgv.1 uc002jgw.1)
    ENST00000580548 ENST00000580753 ENST00000392720 ENST00000359783 ENST00000584837
    ENST00000578175 ENST00000579724 ENST00000584494 ENST00000580837(uc002jgx.1)
    ENST00000577866 ENST00000585050 ENST00000582430 ENST00000577985(uc002jgy.1)
    ENST00000577273 ENST00000584836 ENST00000584350 ENST00000581779
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate AMZ2:
    hsa-miR-493
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    Inhib. RNA
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    Additional mRNA sequence: 

    AJ635358.1 AK126146.1 BC035935.2 BC050709.1 BC056271.1 

    14 DOTS entries:

    DT.100855970  DT.97784726  DT.101964271  DT.100651597  DT.100651593  DT.95374651  DT.92455021  DT.451120 
    DT.95374656  DT.120934661  DT.100651595  DT.105583  DT.75103657  DT.91959679 

    24/377 AceView cDNA sequences (see all 377):

    AI499729 BU169045 AI147856 AA287030 AI094421 D58699 AA452032 BU686221 
    BE890363 BU686939 BG028543 BQ688066 BQ686812 AA932880 CR603455 AI201423 
    AK126146 BQ446613 NM_016627 CR600562 BX415653 CR609550 AA445917 CB137501 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for AMZ2 (see all 10)    About this scheme

    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:                                -     -     -           -                             -                                                               


    ECgene alternative splicing isoforms for AMZ2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AMZ2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATGCTTTC
    AMZ2 Expression
    About this image


    See AMZ2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AMZ2

    SOURCE GeneReport for Unigene cluster: Hs.293560

    UniProtKB/Swiss-Prot: AMZ2_HUMAN, Q86W34
    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)

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMZ2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for AMZ2 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Amz21 , 5 archaelysin family metallopeptidase 21, 5 81.62(n)1
    79.39(a)1
      11 (71.89 cM)5
    139291  NM_025275.41  NP_079551.31 
     1094259765 


    ENSEMBL Gene Tree for AMZ2 (if available)
    TreeFam Gene Tree for AMZ2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for AMZ2 gene
    AMZ12  
    2 SIMAP similar genes for AMZ2 using alignment to 9 protein entries:     AMZ2_HUMAN (see all proteins):
    KIAA1950    AMZ1

    AMZ2 for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for AMZ2
    PGOHUM00000262965 PGOHUM00000263098 PGOHUM00000243433 PGOHUM00000241216


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/291 SNPs in AMZ2 are shown (see all 291)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1458539081,2
    --66242171(+) GTGGGA/GCGCGG 6 -- us2k10--------
    rs72198711,2
    C,F--66242335(+) aaaatC/Acaaaa 6 -- us2k12Minor allele frequency- A:0.50NA 4
    rs711421571,2
    C--66242337(-) TTTTT-/TTTTTT 6 -- us2k11Minor allele frequency- T:0.00NA 2
    rs37602731,2
    C,F--66242378(-) GCACAC/TACCAC 6 -- us2k12Minor allele frequency- T:0.50NA 4
    rs1914615001,2
    --66242441(+) GAAGCA/GTAAGT 6 -- us2k10--------
    rs37602721,2
    C,F--66242442(-) AACTTA/CTGCTT 6 -- us2k16Minor allele frequency- C:0.19NA WA CSA EA 247
    rs37602711,2
    C,F,A--66242481(-) TCCAGG/ACTGGA 6 -- us2k18Minor allele frequency- A:0.43NA WA CSA 14
    rs1473417571,2
    --66242495(+) CAGAGC/TGAGAC 6 -- us2k10--------
    rs37602701,2
    C,F--66242568(-) AACTAC/TTTGAC 6 -- us2k15Minor allele frequency- T:0.09WA CSA NA EA 362
    rs1823550711,2
    --66242569(+) TCAAGC/TAGTTG 6 -- us2k10--------

    HapMap Linkage Disequilibrium report for AMZ2 (66243715 - 66253305 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for AMZ2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2716144CNV Deletion23290073
    esv2716143CNV Deletion23290073
    esv2716146CNV Deletion23290073
    esv2716145CNV Deletion23290073

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    AMZ2 for disorders           About MalaCards
    OMIM gene information: 615169    OMIM disorders: --


    AMZ2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AMZ2
    Human Genome Epidemiology (HuGE) Navigator: AMZ2 (1 document)

    Export disorders for AMZ2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AMZ2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with AMZ2)
        Utopia: connect your pdf to the dynamic
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    1. Identification and characterization of human archaemetzincin-1 and - 2, two novel members of a family of metalloproteases widely distributed in Archaea. (PubMed id 15972818)1, 2, 3, 9 Diaz-Perales A.... Lopez-Otin C. (2005)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    9. Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue. (PubMed id 17074343)2 Lin Y.H.... Kuo P.L. (2006)
    10. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51321 HGNC: 28041 AceView: LOC51321 Ensembl:ENSG00000196704 euGenes: HUgn51321
    ECgene: AMZ2 H-InvDB: AMZ2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AMZ2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AMZ2 gene:
    Search GeneIP for patents involving AMZ2

    GeneCards and IP:
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