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MMP12 Gene

protein-coding   GIFtS: 72
GCID: GC11M102767

Matrix Metallopeptidase 12 (Macrophage Elastase)

(Previous name: matrix metalloproteinase 12 (macrophage elastase))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Matrix Metallopeptidase 12 (Macrophage Elastase)1 2     EC 3.4.24.653 8
Matrix Metalloproteinase 12 (Macrophage Elastase)1 2     Macrophage Metalloelastase2
HME2 3     hME3
ME2 3     Macrophage Elastase3
MME2 3     Matrix Metalloproteinase-123
MMP-122 3     EC 3.4.248

External Ids:    HGNC: 71581   Entrez Gene: 43212   Ensembl: ENSG000001103477   OMIM: 6010465   UniProtKB: P399003   

Export aliases for MMP12 gene to outside databases

Previous GC identifers: GC11M104927 GC11M104090 GC11M102271 GC11M102238 GC11M098661


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for MMP12 Gene:
Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in
normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in
disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are
activated when cleaved by extracellular proteinases. It is thought that the protein encoded by this gene is
cleaved at both ends to yield the active enzyme, but this processing has not been fully described. The enzyme
degrades soluble and insoluble elastin. It may play a role in aneurysm formation and studies in mice suggest a
role in the development of emphysema. The gene is part of a cluster of MMP genes which localize to chromosome
11q22.3. (provided by RefSeq, Jul 2008)

GeneCards Summary for MMP12 Gene:
MMP12 (matrix metallopeptidase 12 (macrophage elastase)) is a protein-coding gene. Diseases associated with MMP12 include anaplastic astrocytoma, and encephalomyelitis. GO annotations related to this gene include endopeptidase activity and calcium ion binding.

UniProtKB/Swiss-Prot: MMP12_HUMAN, P39900
Function: May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large
and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are
preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3

summary for MMP12 Gene:
Matrix metalloproteases (matrix metalloproteinase, MMPs), also called matrixins, are zinc-dependent
endopeptidases that are the major proteases involved in ECM degradation. MMPs are capable of degrading a
wide range of extracellular molecules and a number of bioactive molecules. 24 matrixin genes have been
identified in humans, which can be organized into six groups based on domain organization and substrate
preference: Collagenases (MMP-1, -8 and -13), Gelatinases (MMP-2 and MMP-9), Stromelysins (MMP-3, -10 and
-11), Matrilysin (MMP-7 and MMP-26), Membrane-type (MT)-MMPs (MMP-14, -15, -16, -17, -24 and -25) and others
(MMP-12, -19, -20, -21, -23, -27 and -28). MMP activity is regulated by two major endogenous inhibitors:
alpha2-macroglobulin and tissue inhibitors of metalloproteases (TIMPs). MMPs play a central role in cell
proliferation, migration, differentiation, angiogenesis, apoptosis and host defences. Dysregulatoin of MMPs
has been implicated in many diseases including arthritis, chronic ulcers, encephalomyelitis and cancer.
Tumour metastasis is a multistep process involving the dessemination of tumor cells from the primary tumor
to secondarys at a distant organ or tissue. One of the first steps in metastasis is the degradation of the
basement membrane, a process in which MMPs have been implicated. MMPs are secreted by tumor cells themselves
or by surrounding stromal cells stimulated by the nearby tumor. Numerous studies have linked altered MMP
expression in different human cancers with poor disease prognosis. MMP-1, -2, -3, -7, -9, -13 and -14 all
have elevated expression in primary tumors and/or metastases. Synthetic or natural inhibitors of MMPs result
in inhibition of metastasis, while up-regulation of MMPs led to enhanced cancer cell invasion.

Gene Wiki entry for MMP12 (Matrix metallopeptidase 12) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the MMP12 gene promoter:
         RFX1   Sox5   GATA-3   STAT5A   HNF-3beta   GATA-2   GATA-1   RORalpha1   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMMP12 promoter sequence
   Search Chromatin IP Primers for MMP12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MMP12


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

Entrez Gene cytogenetic band: 11q22.3   Ensembl cytogenetic band:  11q22.2   HGNC cytogenetic band: 11q22.3

MMP12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MMP12 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M102767:  view genomic region     (about GC identifiers)

Start:
102,733,464 bp from pter      End:
102,745,764 bp from pter
Size:
12,301 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MMP12_HUMAN, P39900 (See protein sequence)
Recommended Name: Macrophage metalloelastase precursor  
Size: 470 amino acids; 54002 Da
Cofactor: Binds 4 calcium ions per subunit
Cofactor: Binds 2 zinc ions per subunit
Selected PDB 3D structures from and Proteopedia for MMP12 (see all 60):
1JIZ (3D)        1JK3 (3D)        1OS2 (3D)        1OS9 (3D)        1RMZ (3D)        1ROS (3D)    
Secondary accessions: B2R9X8 B7ZLF6 Q2M1L9

Explore the universe of human proteins at neXtProt for MMP12: NX_P39900

Explore proteomics data for MMP12 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn20, Asn285
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MMP12 (P39900) (see all 5)
     FKDRFFW  GIQSLYG  VKKIDAA  WSNVTPL 


    See MMP12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002417.2  Reactome Protein details: P39900

    MMP12 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for MMP12 (MMP-12)
    Enzo Life Sciences proteins for MMP12
    OriGene Purified Protein for MMP12
    OriGene Protein Over-expression Lysate for MMP12
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MMP12
    GenScript Custom Purified and Recombinant Proteins Services for MMP12
    Novus Biologicals MMP12 Proteins
    Novus Biologicals MMP12 Lysates
    Sino Biological Recombinant Protein for MMP12
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MMP12

    MMP12 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of MMP12
    R&D Systems Antibodies for MMP12 (MMP-12)
    OriGene Antibodies for MMP12
    OriGene Custom Antibody Services for MMP12
    Novus Biologicals MMP12 Antibodies
    Abcam antibodies for MMP12
    Cloud-Clone Corp. Antibodies for MMP12
    ThermoFisher Antibody for MMP12
    LSBio Antibodies in human, mouse, rat for MMP12

    MMP12 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MMP12
    R&D Systems Luminex Assays for MMP12 (MMP-12)         (see all)
    GenScript MMP12-Activity-based Protease?src=genec Assay for Compound Screening
    Enzo Life Sciences assays for MMP12
    Cloud-Clone Corp. ELISAs for MMP12
    Cloud-Clone Corp. CLIAs for MMP12


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: MMP12
    Cell-surface protein and extracellular matrix metalloproteinases

    Selected InterPro protein domains (see all 11):
     IPR024079 MetalloPept_cat_dom
     IPR021158 Pept_M10A_Zn_BS
     IPR021190 Pept_M10A
     IPR000585 Hemopexin-like_dom
     IPR018486 Hemopexin_CS

    Graphical View of Domain Structure for InterPro Entry P39900

    ProtoNet protein and cluster: P39900

    2 Blocks protein domains:
    IPB000585 Hemopexin repeat
    IPB001818 Matrixin


    UniProtKB/Swiss-Prot: MMP12_HUMAN, P39900
    Domain: The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting
    the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the
    enzyme
    Similarity: Belongs to the peptidase M10A family
    Similarity: Contains 4 hemopexin repeats


    MMP12 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMP12_HUMAN, P39900
    Function: May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large
    and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are
    preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3
    Catalytic activity: Hydrolysis of soluble and insoluble elastin. Specific cleavages are also produced at 14-Ala-
    -Leu-15 and 16-Tyr- -Leu-17 in the B chain of insulin
    Induction: By exposure to bacterial lipopolysaccharides (LPS). Inhibited by dexamethasone

         Genatlas biochemistry entry for MMP12:
    matrix metalloproteinase 12,regulator in matrix remodeling in the MMP cluster,expressed in alveolar macrophage and
    placental cells,mRNA upregulated in rheumatoid arthritis

         Enzyme Numbers (IUBMB): EC 3.4.24.651 2 EC 3.4.242

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004175endopeptidase activity TAS8226919
    GO:0004222metalloendopeptidase activity TAS8226919
    GO:0005509calcium ion binding IEA--
    GO:0008270zinc ion binding IEA--
         
    MMP12 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MMP12:
     Cell division defect  Increased 8N DNA content 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Mmp12):
     cardiovascular system  hematopoietic system  homeostasis/metabolism  immune system  integument 
     nervous system  reproductive system  respiratory system 

    MMP12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mmp12tm1Sds for MMP12

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MMP12
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MMP12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MMP12
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MMP12

    miRNA
    Products:
        
    miRTarBase miRNAs that target MMP12:
    hsa-mir-145-5p (MIRT021521)

    Block miRNA regulation of human, mouse, rat MMP12 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MMP12
    SwitchGear 3'UTR luciferase reporter plasmidMMP12 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MMP12
    Predesigned siRNA for gene silencing in human, mouse, rat MMP12

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MMP12

    Clone
    Products:
         
    OriGene clones in human, mouse for MMP12 (see all 6)
    OriGene ORF clones in mouse, rat for MMP12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MMP12 (NM_002426)
    Sino Biological Human cDNA Clone for MMP12
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MMP12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MMP12

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MMP12
    Browse ESI BIO Cell Lines and PureStem Progenitors for MMP12 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMP12


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MMP12_HUMAN, P39900: Secreted, extracellular space, extracellular matrix (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane2
    endoplasmic reticulum1
    lysosome1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--

    MMP12 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for MMP12 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Matrix Metalloproteinases
    Matrix Metalloproteinases0.68
    Inhibition of Matrix Metalloproteinases0.68
    2Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    Cell adhesion ECM remodeling0.31
    3Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    Collagen degradation0.43
    4Integrin Pathway
    UPA-UPAR Pathway0.56
    Transendothelial Migration of Leukocytes0.38
    5GPCR Pathway
    Pancreatic Adenocarcinoma0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MMP12
        Inhibition of Matrix Metalloproteinases
    Colorectal Cancer Metastasis
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway
    Pancreatic Adenocarcinoma

    1 GeneGo (Thomson Reuters) Pathway for MMP12
        Cell adhesion ECM remodeling

    1 BioSystems Pathway for MMP12
        Matrix Metalloproteinases


    2 Reactome Pathways for MMP12
        Degradation of the extracellular matrix
    Collagen degradation



    MMP12 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MMP12: 
              Lung Cancer in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for MMP12

    Selected Interacting proteins for MMP12 (P399002, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CXCL2P198753I2D: score=2 
    F12P007483I2D: score=2 
    PLAURQ034053I2D: score=2 
    TFPIP106463I2D: score=2 
    CCL13Q996163I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS8226919
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--
    GO:0035313wound healing, spreading of epidermal cells IDA15802269

    MMP12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Enzo Life Sciences drugs & compounds for MMP12
    Selected ApexBio Compounds for MMP12 (see all 15)     About this table
    CompoundAction CAS #
    ARP 100Selective inhibitor of MMP-2[704888-90-4]
    ARP 101Selective inhibitor of MMP-2[849773-63-3]
    Batimastat (BB-94)potent and synthetic inhibitor of a broad spectrum of MMPs[130370-60-4]
    CL 82198 hydrochlorideSelective inhibitor of MMP-13[307002-71-7]
    CP 471474Broad spectrum MMP inhibitor[210755-45-6]
    CTS-1027potent small molecule inhibitor of MMPs[193022-04-7]
    GM 6001Broad-spectrum MMP inhibitor[142880-36-2]
    MarimastatBroad spectrum inhibitor of MMPs[154039-60-8]
    NSC 405020novel small molecule inhibitor of MT1-MMP[7497-7-6]
    ONO 4817Broad spectrum MMP inhibitor[223472-31-9]

    Compounds for MMP12 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    GI 254023XSelective ADAM10 metalloprotease inhibitor[260264-93-5]
    MarimastatBroad spectrum MMP inhibitor[154039-60-8]
    GM 6001Broad-spectrum MMP inhibitor[142880-36-2]
    UK 383367Potent and selective BMP-1 (PCP) inhibitor[348622-88-8]
    Batimastat Potent, broad spectrum MMP inhibitor [130370-60-4]

    1 HMDB Compound for MMP12    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    Selected DrugBank Compounds for MMP12 (see all 15)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Acetohydroxamic AcidAcethydroxamsaure (see all 10)546-88-3targetinhibitor16959356 16899369 15809432 17269766
    Batimastat-- 130370-60-4target--17139284 17016423 10592235
    CP-271485(6R)-4-BENZYL-6-(1-METHYL-2,2-DIOXIDO-1,3-DIHYDRO-2,1-BENZISOTHIAZOL-5-YL)MORPHOLIN-3-ONE (see all 2)--target--17139284 17016423 10592235
    PF-00356231-- --target--17139284 17016423 10592235
    2-[2-(1,3-Dioxo-1,3-Dihydro-2h-Isoindol-2-Yl)Ethyl]-4-(4'-Ethoxy-1,1'-Biphenyl-4-Yl)-4-Oxobutanoic Acid-- --target--17139284 17016423
    Marimastat-- 154039-60-8targetinhibitor10852638 10669951
    (1S,5S,7R)-N~7~-(BIPHENYL-4-YLMETHYL)-N~3~-HYDROXY-6,8-DIOXA-3-AZABICYCLO[3.2.1]OCTANE-3,7-DICARBOXAMIDE-- --target--10592235
    2-[(4-fluorophenyl)sulfonylamino]-N-oxo-ethanamide-- --target--10592235
    N-(biphenyl-4-ylsulfonyl)-D-leucine-- --target--10592235
    N-(dibenzo[b,d]thiophen-3-ylsulfonyl)-L-valine-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for MMP12 gene (see all 21)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    marimastat 66 1 17234180 (1)
    acetohydroxamic acid 63 3 15809432 (1), 16899369 (1)
    batimastat 52.7 2 15809432 (1), 11575928 (1)
    hydroxamate 51.2 5 11575929 (2), 12504900 (1), 16674108 (1)
    zinc 26.9 9 15289103 (2), 12504900 (1), 11575929 (1), 16737445 (1)
    matrigel 20.5 1 16917801 (1)
    vegf 19 14 10636104 (4), 19251952 (1), 17981559 (1), 11740820 (1) (see all 7)
    etanercept 8.96 1 15781250 (1)
    serine 4.41 2 9218437 (1)
    lipid 2.88 1 18823978 (1)



    MMP12 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MMP12 gene: 
    NM_002426.4  

    Unigene Cluster for MMP12:

    Matrix metallopeptidase 12 (macrophage elastase)
    Hs.1695  [show with all ESTs]
    Unigene Representative Sequence: NM_002426
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532855(processed_transcript) ENST00000326227(processed_transcript)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MMP12 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MMP12
    SwitchGear 3'UTR luciferase reporter plasmidMMP12 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MMP12
    Predesigned siRNA for gene silencing in human, mouse, rat MMP12
    Clone
    Products:
         
    OriGene clones in human, mouse for MMP12 (see all 6)
    OriGene ORF clones in mouse, rat for MMP12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MMP12 (NM_002426)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MMP12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MMP12
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MMP12
    OriGene qSTAR qPCR primer pairs in human, mouse for MMP12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MMP12
      QuantiTect SYBR Green Assays in human, mouse, rat MMP12
      QuantiFast Probe-based Assays in human, mouse, rat MMP12

    Additional mRNA sequence: 

    AK313959.1 BC112301.1 BC143773.1 L23808.1 

    3 DOTS entries:

    DT.310810  DT.95263647  DT.91727117 

    Selected AceView cDNA sequences (see all 67):

    AI368844 CR603756 CR594246 BQ011671 AL552239 BQ011440 AL552270 AW170498 
    AV716402 CB241588 BE466604 BQ012914 AI343504 BX115664 L23808 BG205020 
    AI707582 BM831899 N41372 N30838 BX377010 BG218179 N41366 AA639771 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    MMP12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTCTGTAAGT
    MMP12 Expression
    About this image


    MMP12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 4 entries
             Interstitial Cytotrophoblast Cells Extravillous Cytotrophoblast Layer
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Blood (Cardiovascular System)
             Conventional Dendritic Cells II Spleen
     
     Spleen (Hematopoietic System)
             Conventional Dendritic Cells II Spleen
    MMP12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MMP12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.1695

    UniProtKB/Swiss-Prot: MMP12_HUMAN, P39900
    Tissue specificity: Found in alveolar macrophages but not in peripheral blood monocytes

        Pathway & Disease-focused RT2 Profiler PCR Arrays including MMP12: 
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    (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)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for MMP12 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mmp121 , 5 matrix metallopeptidase 121, 5 75.7(n)1
    63.34(a)1
      9 (2.46 cM)5
    173811  NM_008605.31  NP_032631.31 
     73443815 


    ENSEMBL Gene Tree for MMP12 (if available)
    TreeFam Gene Tree for MMP12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MMP12 gene
    15 SIMAP similar genes for MMP12 using alignment to 1 protein entry:     MMP12_HUMAN:
    MMP3    MMP10    MMP8    MMP27    MMP7    MMP1
    MMP20    MMP13    MMP26    MMP14    MMP16    mmp20
    MMP24    MMP11    MMP17

    MMP12 for paralogs           About GeneDecksing



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MMP12 (see all 449)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs57941991,2
    C--98666814(+) CAAGTT/-GGTGC 2 /N /KL fra1 spl31Minor allele frequency- -:0.00CSA 2
    rs283817041,2
    C,F--102602468(-) CCCTGA/TCACAT 1 -- ds50015Minor allele frequency- T:0.01NS 190
    rs1458900291,2
    --102602500(+) GACAGC/GCCACA 1 -- ds50010--------
    rs128081481,2
    C,F,H--102602659(+) TTGACC/TGTGGA 1 -- ds500134Minor allele frequency- G:0.00NA NS EA WA 3180
    rs283817031,2
    C,F--102602728(-) AGTGCT/CTACAG 1 -- ds50016Minor allele frequency- C:0.02NS WA 308
    rs6863751,2
    C,F,A,H--102602730(-) GGAGTG/ACTTAC 1 -- ds500114Minor allele frequency- A:0.17NS EA NA CSA WA 1033
    rs6267291,2
    C,F,A,H--102602866(-) TGACTA/GTATCA 1 -- ds500117Minor allele frequency- G:0.17NS EA NA WA 2340
    rs283817021,2
    C,F--102602962(-) AATTG-/AAAAAA 1 -- ut315Minor allele frequency- A:0.14NS 188
    rs1489778411,2
    --102603010(+) TTTTAA/GTTATG 1 -- ut310--------
    rs1831245171,2
    --102603042(+) CAGTCC/TAAGGA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MMP12 (102733464 - 102745764 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MMP12:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv898335CNV Loss21882294

    Human Gene Mutation Database (HGMD): MMP12
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MMP12
    DNA2.0 Custom Variant and Variant Library Synthesis for MMP12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601046    OMIM disorders: --

    Selected diseases for MMP12 (see all 78):    
    About MalaCards
    anaplastic astrocytoma    encephalomyelitis    gastric cardia adenocarcinoma    dermatitis herpetiformis
    human granulocytic anaplasmosis    human monocytic ehrlichiosis    refractive error    ehrlichiosis
    exostosis    alpha 1-antitrypsin deficiency    ollier disease    pulmonary emphysema
    pulmonary sarcoidosis    aggressive periodontitis    arthritis    moyamoya disease
    abdominal aortic aneurysm    aortic aneurysm    arteriovenous malformation    coronary artery aneurysm

    4 diseases from the University of Copenhagen DISEASES database for MMP12:
    Chronic obstructive pulmonary disease     Human granulocytic anaplasmosis     Human monocytic ehrlichiosis     Exostosis

    MMP12 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for MMP12 gene (see all 48)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pulmonary disease chronic obstructive 63.9 17 18619044 (2), 15355665 (1), 19775099 (1), 15723202 (1) (see all 8)
    pulmonary emphysema 63.7 2 19456279 (1), 9082500 (1)
    solar elastosis 59.4 1 12190877 (1)
    inflammation 44.3 24 16510458 (3), 19725580 (2), 18001475 (2), 19706765 (1) (see all 14)
    aortic aneurysm abdominal 43.8 6 9835614 (1), 16122719 (1), 16082623 (1), 17182940 (1) (see all 5)
    atherosclerotic plaque 40.6 4 10825169 (1), 15073384 (1), 17194896 (1), 18823978 (1)
    bronchoalveolar lavage fluid 36.5 2 9230755 (1)
    atherosclerosis 35.1 28 18403602 (5), 10825169 (2), 15359603 (1), 19456279 (1) (see all 10)
    dermatitis herpetiformis 32.3 3 10201535 (1), 11247893 (1)
    metastasis 26.9 16 15709175 (2), 18396640 (2), 17357518 (2), 11923608 (2) (see all 9)

    Genetic Association Database (GAD): MMP12
    Human Genome Epidemiology (HuGE) Navigator: MMP12 (59 documents)

    Export disorders for MMP12 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)
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    PubMed articles for MMP12 gene, integrated from 10 sources (see all 371):
    (articles sorted by number of sources associating them with MMP12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Crystal structure of human macrophage elastase (MMP-12) in complex with a hydroxamic acid inhibitor. (PubMed id 11575929)1, 2, 9 Nar H.... Jung B. (J. Mol. Biol. 2001)
    2. Substrate specificity determinants of human macrophage elastase (MMP- 12) based on the 1.1 A crystal structure. (PubMed id 11575928)1, 2, 9 Lang R....Maskos K. (J. Mol. Biol. 2001)
    3. Hydrolysis of a broad spectrum of extracellular matrix proteins by human macrophage elastase. (PubMed id 9115292)1, 2, 9 Gronski T.J. Jr.... Shapiro S.D. (J. Biol. Chem. 1997)
    4. Cloning and characterization of a unique elastolytic metalloproteinase produced by human alveolar macrophages. (PubMed id 8226919)1, 2, 9 Shapiro S.D.... Ley T.J. (J. Biol. Chem. 1993)
    5. Gene polymorphisms of matrix metalloproteinase-2, -9 and -12 in periodontal health and severe chronic periodontitis. (PubMed id 18155181)1, 4, 9 GA1rkan A....Berdeli A. (Arch. Oral Biol. 2008)
    6. [Association of functional polymorphisms on MMP-12 and MMP-13 gene promoter region with epithelial ovarian carcinoma]. (PubMed id 20376807)1, 4, 9 Jia J....Li Y. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010)
    7. Single nucleotide polymorphisms in matrix metalloproteinase genes and lung cancer chemotherapy response and prognosis. (PubMed id 19643940)1, 4, 9 Scherf D.B....Risch A. (Eur. Respir. J. 2010)
    8. Matrix metalloprotease polymorphisms are associated with gas transfer in alpha 1 antitrypsin deficiency. (PubMed id 19293200)1, 4, 9 McAloon C.J....Stockley R.A. (Ther Adv Respir Dis 2009)
    9. Association of MMP1, MMP3, MMP9, and MMP12 polymorphisms with risk and clinical course of multiple sclerosis in a Polish population. (PubMed id 19628284)1, 4, 9 Mirowska-Guzel D....Czlonkowska A. (J. Neuroimmunol. 2009)
    10. Matrix metalloproteinase-2, -9, and -12 gene polymorphisms in generalized aggressive periodontitis. (PubMed id 18052707)1, 4, 9 GA1rkan A....Berdeli A. (J. Periodontol. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 4321 HGNC: 7158 AceView: MMP12 Ensembl:ENSG00000110347 euGenes: HUgn4321
    ECgene: MMP12 H-InvDB: MMP12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MMP12 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MMP12 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mmp12/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MMP12 gene:
    Search GeneIP for patents involving MMP12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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