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MMP20 Gene

protein-coding   GIFtS: 66
GCID: GC11M102448

Matrix Metallopeptidase 20

(Previous name: matrix metalloproteinase 20 (enamelysin))
  See MMP20-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 201 2     Matrix Metalloproteinase-202
Matrix Metalloproteinase 20 (Enamelysin)1 2     EC 3.4.24.-3
Enamel Metalloproteinase2 3     Enamelysin3
MMP-202 3     EC 3.4.248
AI2A22 5     EC 3.4.24.228
enamelysin1     EC 3.4.24.358

External Ids:    HGNC: 71671   Entrez Gene: 93132   Ensembl: ENSG000001376747   OMIM: 6046295   UniProtKB: O608823   

Export aliases for MMP20 gene to outside databases

Previous GC identifers: GC11M104641 GC11M103804 GC11M102481 GC11M101985 GC11M101952 GC11M098374


(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 MMP20 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. The protein encoded by this gene degrades amelogenin, the
major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A
mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded
protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on
chromosome 11q22.3. (provided by RefSeq, Aug 2011)

GeneCards Summary for MMP20 Gene:
MMP20 (matrix metallopeptidase 20) is a protein-coding gene. Diseases associated with MMP20 include amelogenesis imperfecta, hypomaturation type, iia2, and amelogenesis imperfecta, type iia2. GO annotations related to this gene include metalloendopeptidase activity and calcium ion binding. An important paralog of this gene is MMP13.

UniProtKB/Swiss-Prot: MMP20_HUMAN, O60882
Function: Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules
characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP).
May play a central role in tooth enamel formation

summary for MMP20 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 MMP20 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 at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   Regulatory transcription factor binding sites in the MMP20 gene promoter:
         RP58   Pbx1a   GCNF   Lmo2   HNF-3beta   AREB6   POU2F1   GCNF-1   POU2F1a   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMMP20 promoter sequence
   Search Chromatin IP Primers for MMP20

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MMP20


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

MMP20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MMP20 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M102448:  view genomic region     (about GC identifiers)

Start:
102,447,566 bp from pter      End:
102,496,063 bp from pter
Size:
48,498 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MMP20_HUMAN, O60882 (See protein sequence)
Recommended Name: Matrix metalloproteinase-20 precursor  
Size: 483 amino acids; 54387 Da
Cofactor: Binds 2 zinc ions per subunit
Cofactor: Binds 2 calcium ions per subunit
Developmental stage: Expression initiates prior to the onset of dentin mineralization and continues throughout the
secretory stage of amelogenesis
1 PDB 3D structure from and Proteopedia for MMP20:
2JSD (3D)    
Secondary accessions: Q6DKT9

Explore the universe of human proteins at neXtProt for MMP20: NX_O60882

Explore proteomics data for MMP20 at MOPED

Post-translational modifications: 

  • Autoactivates at least at the 107-Asn- -Tyr-108 site (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for MMP20 (O60882) (see all 11)
     GEADIMI  NGYIYFF  PRCGVPD  FFKGPHYW 


    See MMP20 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004762.2  
    ENSEMBL proteins: 
     ENSP00000260228  
    Reactome Protein details: O60882

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    (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: MMP20
    Cell-surface protein and extracellular matrix metalloproteinases

    Selected InterPro protein domains (see all 10):
     IPR024079 MetalloPept_cat_dom
     IPR028716 MMP20
     IPR021158 Pept_M10A_Zn_BS
     IPR021190 Pept_M10A
     IPR000585 Hemopexin-like_dom

    Graphical View of Domain Structure for InterPro Entry O60882

    ProtoNet protein and cluster: O60882

    3 Blocks protein domains:
    IPB000585 Hemopexin repeat
    IPB001818 Matrixin
    IPB002477 Putative peptidoglycan binding domain 1


    UniProtKB/Swiss-Prot: MMP20_HUMAN, O60882
    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


    Find genes that share domains with MMP20           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MMP20_HUMAN, O60882
    Function: Degrades amelogenin, the major protein component of the enamel matrix and two of the macromolecules
    characterizing the cartilage extracellular matrix: aggrecan and the cartilage oligomeric matrix protein (COMP).
    May play a central role in tooth enamel formation
    Catalytic activity: Cleaves aggrecan at the 360-Asn- -Phe-361 site

         Enzyme Numbers (IUBMB): EC 3.4.24.-1 EC 3.4.24.352 EC 3.4.242 EC 3.4.24.222

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI18434575
    GO:0008237metallopeptidase activity ----
    GO:0008270zinc ion binding IEA--
         
    Find genes that share ontologies with MMP20           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mmp20):
     craniofacial 

    Find genes that share phenotypes with MMP20           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Mmp20tm1Jdb for MMP20

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MMP20
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    hsa-mir-192-5p (MIRT026110), hsa-mir-215-5p (MIRT024491), hsa-mir-335-5p (MIRT016744)

    Block miRNA regulation of human, mouse, rat MMP20 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MMP20
    SwitchGear 3'UTR luciferase reporter plasmidMMP20 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMP20


    (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
    MMP20_HUMAN, O60882: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    mitochondrion2
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space TAS9398237
    GO:0031012extracellular matrix ----

    Find genes that share ontologies with MMP20           About GenesLikeMe


    (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 MMP20 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Matrix Metalloproteinases
    Matrix Metalloproteinases0.68
    Inhibition of Matrix Metalloproteinases0.68
    2Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    Collagen degradation0.43
    3Collagen biosynthesis and modifying enzymes
    Collagen formation0.75
    Assembly of collagen fibrils and other multimeric structures0.62
    4Integrin Pathway
    UPA-UPAR Pathway0.56
    Transendothelial Migration of Leukocytes0.38
    5GPCR Pathway
    Pancreatic Adenocarcinoma0.59


    Find genes that share SuperPaths with MMP20           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MMP20
        Inhibition of Matrix Metalloproteinases
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway
    Pancreatic Adenocarcinoma

    1 BioSystems Pathway for MMP20
        Matrix Metalloproteinases

    3 Reactome Pathways for MMP20
        Assembly of collagen fibrils and other multimeric structures
    Degradation of the extracellular matrix
    Collagen degradation


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MMP20
    Interactions:

        Search GeneGlobe Interaction Network for MMP20

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for MMP20 (O608823 ENSP000002602284) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TIMP1ENSP000002183884STRING: ENSP00000218388
    --E7EX883I2D: score=1 
    --ENSP000002681344STRING: ENSP00000268134
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis TAS9398237
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--
    GO:0070173regulation of enamel mineralization TAS18434575

    Find genes that share ontologies with MMP20           About GenesLikeMe



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for MMP20 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 MMP20    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 DrugBank Compounds for MMP20    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Marimastat-- 154039-60-8targetinhibitor10852638 10669951
    N-ISOBUTYL-N-[4-METHOXYPHENYLSULFONYL]GLYCYL HYDROXAMIC ACID-- --target--10592235

    5 Novoseek inferred chemical compound relationships for MMP20 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fluoride 31.5 18 17611094 (6), 16674670 (3), 12446183 (2)
    proline 28.6 1 18701806 (1)
    threonine 23 1 18434575 (1)
    serine 16.7 3 12446183 (1), 11062989 (1)
    tyrosine 0 2 12648554 (1), 11223334 (1)



    Find genes that share compounds with MMP20           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MMP20 gene: 
    NM_004771.3  

    Unigene Cluster for MMP20:

    Matrix metallopeptidase 20
    Hs.591946  [show with all ESTs]
    Unigene Representative Sequence: NM_004771
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260228(uc001phc.3) ENST00000542305 ENST00000544938
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    Additional mRNA sequence: 

    AJ296177.1 Y12779.1 

    2 DOTS entries:

    DT.86859878  DT.100742567 

    8 AceView cDNA sequences:

    Y12779 AJ296177 BX282654 NM_004771 AW593141 BG187290 BI562315 AA824656 

    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)
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    MMP20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAATGTGG
    MMP20 Expression
    About this image


    MMP20 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             Ameloblasts Dental Enamel
             Dentin
     
     Epithelial Cells
             Inner Enamel Epithelial Cells Dental Enamel
    MMP20 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MMP20 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591946

    UniProtKB/Swiss-Prot: MMP20_HUMAN, O60882
    Tissue specificity: Expressed specifically in the enamel organ

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMP20

    (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 chordates.

    Orthologs for MMP20 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mmp201 , 5 matrix metallopeptidase 20 (enamelysin)1, 5 88.04(n)1
    89.42(a)1
      9 (2.46 cM)5
    308001  NM_013903.21  NP_038931.11 
     76282315 
    lizard
    (Anolis carolinensis)
    Reptilia MMP206
    matrix metallopeptidase 20
    72(a)
    1 ↔ 1
    3(192188722-192212640)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mmp201 matrix metallopeptidase 20 70.62(n)
    72.89(a)
      100489409  XM_002934921.2  XP_002934967.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003297661 matrix metalloproteinase-20-like 56(n)
    45.47(a)
      100329766  XM_002664622.3  XP_002664668.3 


    ENSEMBL Gene Tree for MMP20 (if available)
    TreeFam Gene Tree for MMP20 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MMP20 gene
    MMP132  MMP82  MMP142  MMP252  MMP162  MMP72  MMP242  MMP152  
    MMP32  MMP112  MMP272  MMP172  MMP102  MMP12  
    15 SIMAP similar genes for MMP20 using alignment to 1 protein entry:     MMP20_HUMAN:
    MMP7    MMP1    MMP8    MMP12    MMP13    MMP3
    MMP27    MMP10    MMP26    MMP24    MMP14    MMP16
    MMP17    MMP11    MMP15

    Find genes that share paralogs with MMP20           About GenesLikeMe



    (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 MMP20 (see all 1374)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1415233401,2
    C--98376539(+) CACAC-/AA/CA 
            
    AAAAA
    1 -- int10--------
    rs17844421,2
    C,F,A,H--98390618(-) AATCAG/AATGTC 1 -- int18Minor allele frequency- A:0.48NS EA NA CSA 544
    rs17114421,2
    C,F--98390619(-) GAATCA/TGATGT 1 -- int14Minor allele frequency- T:0.46NA NS CSA 182
    rs347565471,2
    C--98395736(+) CTCCC-/TGACCT 1 -- int10--------
    rs57941831,2
    C--98395790(+) GGCGT-/GAGACA 1 -- int10--------
    rs354156191,2
    C--98395792(+) GCGTA-/GGACAC 1 -- int10--------
    rs30469281,2
    C--98396771(+) ttttt-/T/TT  
            
    gagat
    1 -- int11NA 2
    rs1128555641,2
    C--98398899(+) TGAGAC/TGGAGT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1131270411,2
    C,F--98398959(+) GCAAGC/TTCCGC 1 -- int12Minor allele frequency- T:0.50WA NA 4
    rs1136632011,2
    C--98399097(+) GGTCTC/TGATCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for MMP20 (102447566 - 102496063 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for MMP20:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744991CNV Deletion23290073
    esv2744992CNV Deletion23290073
    nsv507614CNV Insertion20534489
    nsv462CNV Insertion18451855
    esv33621CNV Loss17666407
    esv33374CNV Loss17666407
    nsv826061CNV Loss20364138
    esv7543CNV Loss19470904
    nsv832252CNV Gain17160897

    Human Gene Mutation Database (HGMD): MMP20
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MMP20
    DNA2.0 Custom Variant and Variant Library Synthesis for MMP20

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604629   
    OMIM disorders: 612529  
    UniProtKB/Swiss-Prot: MMP20_HUMAN, O60882
  • Amelogenesis imperfecta, hypomaturation type, 2A2 (AI2A2) [MIM:612529]: A defect of enamel formation. The
    disorder involves both primary and secondary dentitions. The teeth have a shiny agar jelly appearance and the
    enamel is softer than normal. Brown pigment is present in middle layers of enamel. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 9 diseases for MMP20:    
    About MalaCards
    amelogenesis imperfecta, hypomaturation type, iia2    amelogenesis imperfecta, type iia2    amelogenesis imperfecta    amelogenesis imperfecta, type ia5
    dental fluorosis    encephalomyelitis    dentin dysplasia    dentinogenesis imperfecta
    arthritis

    5 diseases from the University of Copenhagen DISEASES database for MMP20:
    Amelogenesis imperfecta     Dental fluorosis     Dentinogenesis imperfecta     Dentin dysplasia
    Tooth agenesis

    Find genes that share disorders with MMP20           About GenesLikeMe

    5 Novoseek inferred disease relationships for MMP20 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amelogenesis imperfecta 94.5 14 18096894 (3), 16246936 (1), 18434575 (1), 19966041 (1) (see all 8)
    odontogenic cyst calcifying 80.6 2 10872887 (1), 11023283 (1)
    ameloblastoma 58.8 1 11023283 (1)
    odontogenic tumors 58 9 11023283 (4), 11706946 (1)
    tumors 0 2 11023283 (1), 11153928 (1)

    Genetic Association Database (GAD): MMP20
    Human Genome Epidemiology (HuGE) Navigator: MMP20 (10 documents)

    Export disorders for MMP20 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 MMP20 gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with MMP20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and structural and functional characterization of human enamelysin (MMP-20). (PubMed id 9398237)1, 2, 3, 9 Llano E.... Lopez-Otin C. (Biochemistry 1997)
    2. Matrix metalloproteinases 19 and 20 cleave aggrecan and cartilage oligomeric matrix protein (COMP). (PubMed id 10922468)1, 2, 9 Stracke J.O.... Knaeuper V. (FEBS Lett. 2000)
    3. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. (PubMed id 15744043)1, 2, 9 Kim J.-W.... Hu J.C.-C. (J. Med. Genet. 2005)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. (PubMed id 19834535)1, 4 Wheeler H.E....Kim S.K. (PLoS Genet. 2009)
    7. JNK/c-Jun signaling pathway mediates the fluoride-induced down-regulation of MMP-20 in vitro. (PubMed id 17611094)1, 9 Zhang Y....Denbesten P.K. (Matrix Biol. 2007)
    8. Expression and regulation of MMP-20 in human tongue carcinoma cells. (PubMed id 11706946)1, 9 VAoAonAonen A....Salo T. (J. Dent. Res. 2001)
    9. Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta. (PubMed id 18434575)1, 9 Tanimoto K....Li W. (J. Dent. Res. 2008)
    10. Catalytic domain of MMP20 (Enamelysin) - the NMR structure of a new matrix metalloproteinase. (PubMed id 17869250)2, 9 Arendt Y....Gonnelli L. (FEBS Lett. 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: 9313 HGNC: 7167 AceView: MMP20 Ensembl:ENSG00000137674 euGenes: HUgn9313
    ECgene: MMP20 H-InvDB: MMP20

    (According to HUGE)
    About This Section

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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 MMP20 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MMP20 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mmp20/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MMP20 gene:
    Search GeneIP for patents involving MMP20

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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