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

MMP20 Gene

protein-coding   GIFtS: 64
GCID: GC11M102481

matrix metallopeptidase 20

(Previous name: matrix metalloproteinase 20 (enamelysin) )
 Explore 18 diseases affiliated with
MMP20 via our new
 Human Malady Compendium 
Biological research products
for MMP20
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Matrix Metallopeptidase 201 2     EC 3.4.24.-3
Matrix Metalloproteinase 20 (Enamelysin)1 2     Enamelysin3
Enamel Metalloproteinase2 3     EC 3.4.248
MMP-202 3     EC 3.4.24.228
AI2A22 5     EC 3.4.24.358
Matrix Metalloproteinase-202     

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 GC11M101985 GC11M101952 GC11M098374


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

Entrez Gene summary for MMP20:
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)

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:
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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MMP20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC11M102481:  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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
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

Post-translational modifications:

  • Autoactivates at least at the 107-Asn- -Tyr-108 site (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60882

  • 4/11 DME Specific Peptides for MMP20 (O60882) (see all 11)
     GEADIMI  NGYIYFF  PRCGVPD  FFKGPHYW 

    MMP20 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004762.2  
    ENSEMBL proteins: 
     ENSP00000260228  
    Reactome Protein details: O60882
    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: MMP20
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    Novus Biologicals MMP20 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MMP20

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space TAS9398237


    MMP20 for ontologies           About GeneDecksing



    MMP20 Antibody Products: 
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    Enzo Life Sciences assays for MMP20
    Uscn ELISAs and CLIAs for MMP20


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MMP20 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR024079 MetalloPept_cat_dom
     IPR021158 Pept_M10A_Zn_BS
     IPR021190 Pept_M10A_matrixin
     IPR000585 Hemopexin/matrixin
     IPR018487 Hemopexin/matrixin_repeat

    Graphical View of Domain Structure for InterPro Entry O60882

    ProtoNet protein and cluster: O60882

    3 Blocks protein families:
    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-like domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MMP20
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    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MMP20 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMP20

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222metalloendopeptidase activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI18434575
    GO:0008270zinc ion binding IEA--


    MMP20 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Mmp20tm1Jdb for MMP20
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Mmp20):
     craniofacial 

    MMP20 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Collagen formation
    Collagen formation1.00
    Extracellular matrix organization0.54
    Assembly of collagen fibrils and other multimeric structures0.65
    2Degradation of the extracellular matrix
    Degradation of the extracellular matrix1.00
    Degradation of collagen0.79
    3Matrix Metalloproteinases
    Matrix Metalloproteinases1.00
    Inhibition of Matrix Metalloproteinases0.68
    4Integrin Pathway
    UPA-UPAR Pathway0.51
    Transendothelial Migration of Leukocytes0.38
    5GPCR Pathway
    Pancreatic Adenocarcinoma0.55

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for MMP20
        Metalloproteases in connective tissue degradation

    4 Downloadable PowerPoint Slides of QIAGEN 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

    5        Reactome Pathways for MMP20
        Extracellular matrix organization
    Assembly of collagen fibrils and other multimeric structures
    Degradation of the extracellular matrix
    Collagen formation
    Degradation of collagen



    MMP20 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0070173regulation of enamel mineralization TAS18434575
    GO:0097186amelogenesis IEA--


    MMP20 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MMP20 for compounds           About GeneDecksing

    EMD Millipore small molecules for MMP20:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for MMP20 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    CP 471474Broad spectrum MMP inhibitor[210755-45-6]
    MarimastatBroad spectrum MMP inhibitor[154039-60-8]
    ONO 4817Broad spectrum MMP inhibitor[223472-31-9]
    Batimastat Potent, broad spectrum MMP inhibitor [130370-60-4]
    PD 166793Broad spectrum MMP inhibitor[199850-67-4]

    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 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)

    Search CenterWatch for drugs/clinical trials and news about MMP20 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    GenScript: all cDNA clones in your preferred vector: MMP20 (NM_004771)
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MMP20

    Additional cDNA sequence: 

    AJ296177.1 Y12779.1 

    2 DOTS entries:

    DT.86859878  DT.100742567 

    8 AceView cDNA sequences:

    Y12779 BX282654 AJ296177 NM_004771 AW593141 BI562315 BG187290 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™, 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

    MMP20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCAATGTGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MMP20 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MMP20

    SOURCE GeneReport for Unigene cluster: Hs.591946

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

        SABiosciences Custom PCR Arrays for MMP20
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for MMP20 gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia MMP206
    --
    72(a)
    1 ↔ 1
    3(192188722-192212288)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005374451 matrix metalloproteinase-20-like 50.9(n)
    42.57(a)
      100537445  XM_003200053.1  XP_003200101.1 
    worm
    (Caenorhabditis elegans)
    Secernentea H36L18.16
    Protein H36L18.1
    21(a)
    possible ortholog
    X(12647047-12651417)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G450406
    AT4G166406
    (see all 5)
    matrix metalloprotease domain-containing protein
    (see all 5)
    27(a)
    27(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    2(18577650-18578914)
    4(9367248-9368775)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    matrixin family protein
    metalloendoproteinase 1 precursor, putative, expre...
    (see all 4)
    8(a)
    26(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    10(21890877-21896676)
    2(30974996-30977090)


    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)
    About This Section
    Paralogs for MMP20 gene
    MMP132  MMP82  MMP142  MMP92  MMP162  MMP22  MMP252  MMP242  
    MMP152  MMP112  MMP32  MMP272  MMP172  MMP102  MMP12  
    15 SIMAP similar genes for MMP20 using alignment to 1 protein entry:     MMP20_HUMAN:
    MMP7    MMP1    MMP8    MMP12    MMP3    MMP13
    MMP27    MMP10    MMP26    MMP24    MMP14    MMP16
    MMP17    MMP11    MMP15

    MMP20 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1158 NCBI SNPs in MMP20 are shown (see all 1158    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs171348101,2
    C,F,--98374152(-) TGTTTT/GAGTTT 1 -- ds500110Minor allele frequency- G:0.05NS CSA WA NA 892
    rs760454871,2
    --98374162(+) AAAAAG/CATGAA 1 -- ds50011Minor allele frequency- C:0.01EA 120
    rs170985361,2
    C,F,--98374466(-) AAGAGA/GTGGGC 1 -- ds50018Minor allele frequency- G:0.05NS EA 776
    rs22927291,2
    C,H,--98374645(+) CCAAAT/AGATGG 1 -- ut31 ese34Minor allele frequency- A:0.00NS EA 408
    rs122784821,2
    C,F,H,--98374845(+) TTGATT/GTGGAT 1 -- ut317Minor allele frequency- G:0.02NS EA NA WA 514
    rs792484691,2
    C,--98375172(+) TGTAGA/CCTAAA 2 G V mis10--------
    rs171742851,2
    C,F,--98375499(-) TGGCCG/AGNNNN 1 -- int15Minor allele frequency- A:0.05NS CSA WA NA EA 540
    rs170985541,2
    C,F,--98375744(-) AAAAAT/CAGCAC 1 -- int14Minor allele frequency- C:0.04NS NA WA 382
    rs170985871,2
    C,F,--98376172(-) GGCACA/GGTGAC 1 -- int14Minor allele frequency- G:0.11NS WA CSA 263
    rs170985931,2
    C,F,--98376227(-) TCTACC/TGGGGT 1 -- int17Minor allele frequency- T:0.05NA NS WA 526

    HapMap Linkage Disequilibrium report for MMP20 (102447566 - 102496063 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for MMP20
         1 CNV: 6895
         3 Indels: 11044 39858 61181
    Human Gene Mutation Database (HGMD): MMP20

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    MMP20 for disorders           About GeneDecksing

    OMIM gene information: 604629   
    OMIM disorders: 612529  
    UniProtKB/Swiss-Prot: MMP20_HUMAN, O60882
  • Defects in MMP20 are the cause of amelogenesis imperfecta hypomaturation type 2A2 (AI2A2) [MIM:612529]. AI2A2
  • is an autosomal recessive 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

    18 diseases for MMP20:    About MalaCards
    amelogenesis imperfecta    amelogenesis imperfecta, type iia2    amelogenesis imperfecta hypomaturation type    arthritis
    encephalomyelitis    refractive error    dental fluorosis    dentinogenesis imperfecta
    tooth agenesis    dentin dysplasia    laryngeal squamous cell carcinoma    squamous cell carcinoma
    craniopharyngioma    laryngitis    rheumatoid arthritis    carcinoma
    adenocarcinoma    pancreatitis

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

    5 Novoseek 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)

    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)
    About This Section

    PubMed articles for MMP20 gene, integrated from 9 sources (see all 67):
    (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. (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. (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. (2005)
    4. 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. (2007)
    5. Expression and regulation of MMP-20 in human tongue carcinoma cells. (PubMed id 11706946)1, 9 Vaananen A....Salo T. (2001)
    6. Reduced amelogenin-MMP20 interactions in amelogenesis imperfecta. (PubMed id 18434575)1, 9 Tanimoto K....Li W. (2008)
    7. Catalytic domain of MMP20 (Enamelysin) - the NMR structure of a new matrix metalloproteinase. (PubMed id 17869250)2, 9 Arendt Y....Gonnelli L. (2007)
    8. MMP20 hemopexin domain mutation in amelogenesis imper fecta. (PubMed id 19966041)1, 9 Lee S.K....Kim J.W. (2010)
    9. Genetic variation in MMP20 contributes to higher carie s experience. (PubMed id 22330321)1 Tannure P.N....Vieira A.R. (2012)
    10. A multidisciplinary approach for the diagnosis of hypo calcified amelogenesis imperfecta in two Chilean families. (PubMed id 21504268)1 Urzua B....Cifuentes V. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9313 HGNC: 7167 AceView: MMP20 Ensembl:ENSG00000137674 euGenes: HUgn9313
    ECgene: MMP20 H-InvDB: MMP20

    (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 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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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