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Aliases for MMP20 Gene

Aliases for MMP20 Gene

  • Matrix Metallopeptidase 20 2 3
  • Matrix Metalloproteinase 20 (Enamelysin) 2 3
  • Enamel Metalloproteinase 3 4
  • Enamelysin 2 4
  • MMP-20 3 4
  • AI2A2 3 6
  • Matrix Metalloproteinase-20 3
  • EC 3.4.24.22 63
  • EC 3.4.24.35 63
  • EC 3.4.24.- 4
  • EC 3.4.24 63

External Ids for MMP20 Gene

Previous GeneCards Identifiers for MMP20 Gene

  • GC11M104641
  • GC11M103804
  • GC11M101985
  • GC11M101952
  • GC11M098374
  • GC11M102448

Summaries for MMP20 Gene

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, type iia2 and amelogenesis imperfecta. Among its related pathways are GPCR Pathway and Integrin Pathway. GO annotations related to this gene include calcium ion binding and metalloendopeptidase activity. An important paralog of this gene is MMP13.

UniProtKB/Swiss-Prot for MMP20 Gene

  • 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.

Tocris 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

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMP20 Gene

Genomics for MMP20 Gene

Regulatory Elements for MMP20 Gene

Genomic Location for MMP20 Gene

Start:
102,576,835 bp from pter
End:
102,625,332 bp from pter
Size:
48,498 bases
Orientation:
Minus strand

Genomic View for MMP20 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MMP20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMP20 Gene

Proteins for MMP20 Gene

  • Protein details for MMP20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60882-MMP20_HUMAN
    Recommended name:
    Matrix metalloproteinase-20
    Protein Accession:
    O60882
    Secondary Accessions:
    • Q6DKT9

    Protein attributes for MMP20 Gene

    Size:
    483 amino acids
    Molecular mass:
    54387 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 2 calcium ions per subunit.;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions per subunit.;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MMP20 Gene

neXtProt entry for MMP20 Gene

Proteomics data for MMP20 Gene at MOPED

Post-translational modifications for MMP20 Gene

Other Protein References for MMP20 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for MMP20

Domains for MMP20 Gene

Suggested Antigen Peptide Sequences for MMP20 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60882

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
Family:
  • Belongs to the peptidase M10A family.
Similarity:
  • Contains 4 hemopexin repeats.
genes like me logo Genes that share domains with MMP20: view

Function for MMP20 Gene

Molecular function for MMP20 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Cleaves aggrecan at the 360-Asn- -Phe-361 site
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for MMP20 Gene

Gene Ontology (GO) - Molecular Function for MMP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IDA 9398237
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 18434575
GO:0008237 metallopeptidase activity --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with MMP20: view

Phenotypes for MMP20 Gene

MGI mutant phenotypes for MMP20:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with MMP20: view

Animal Models for MMP20 Gene

MGI Knock Outs for MMP20:

Animal Model Products

miRNA for MMP20 Gene

miRTarBase miRNAs that target MMP20

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MMP20

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting and HOMER Transcription for MMP20 Gene

Localization for MMP20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMP20 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MMP20 Gene COMPARTMENTS Subcellular localization image for MMP20 gene
Compartment Confidence
extracellular 4
mitochondrion 2
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
golgi apparatus 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for MMP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0005615 extracellular space TAS 9398237
GO:0031012 extracellular matrix --
genes like me logo Genes that share ontologies with MMP20: view

Pathways for MMP20 Gene

genes like me logo Genes that share pathways with MMP20: view

Interacting Proteins for MMP20 Gene

Gene Ontology (GO) - Biological Process for MMP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030163 protein catabolic process IEA --
GO:0030198 extracellular matrix organization TAS --
GO:0030574 collagen catabolic process TAS --
genes like me logo Genes that share ontologies with MMP20: view

Compounds for MMP20 Gene

(5) Tocris Compounds for MMP20 Gene

Compound Action Cas Number
Batimastat Potent, broad spectrum MMP inhibitor [130370-60-4]
GI 254023X Selective ADAM10 metalloprotease inhibitor [260264-93-5]
GM 6001 Broad spectrum MMP inhibitor [142880-36-2]
Ro 32-3555 Potent, collagenase-selective MMP inhibitor [190648-49-8]
WAY 170523 Potent and selective inhibitor of MMP-13 [307002-73-9]

(1) HMDB Compounds for MMP20 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(2) Drugbank Compounds for MMP20 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Marimastat
154039-60-8 target inhibitor
N-ISOBUTYL-N-[4-METHOXYPHENYLSULFONYL]GLYCYL HYDROXAMIC ACID
target

(5) Novoseek inferred chemical compound relationships for MMP20 Gene

Compound -log(P) Hits PubMed IDs
fluoride 31.5 11
proline 28.6 1
threonine 23 1
serine 16.7 2
tyrosine 0 2
genes like me logo Genes that share compounds with MMP20: view

Transcripts for MMP20 Gene

mRNA/cDNA for MMP20 Gene

(2) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MMP20 Gene

Matrix metallopeptidase 20:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MMP20

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MMP20 Gene

No ASD Table

Relevant External Links for MMP20 Gene

GeneLoc Exon Structure for
MMP20
ECgene alternative splicing isoforms for
MMP20

Expression for MMP20 Gene

mRNA expression in normal human tissues for MMP20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MMP20 Gene

This gene is overexpressed in Testis (33.8), Breast - Mammary Tissue (6.9), and Minor Salivary Gland (4.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MMP20 Gene

SOURCE GeneReport for Unigene cluster for MMP20 Gene Hs.591946

mRNA Expression by UniProt/SwissProt for MMP20 Gene

O60882-MMP20_HUMAN
Tissue specificity: Expressed specifically in the enamel organ
genes like me logo Genes that share expressions with MMP20: view

Expression partners for MMP20 Gene

In Situ Assay Products

No data available for Protein differential expression in normal tissues for MMP20 Gene

Orthologs for MMP20 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MMP20 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MMP20 35
  • 89.54 (n)
  • 88.98 (a)
MMP20 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MMP20 35
  • 85.58 (n)
  • 87.58 (a)
MMP20 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mmp20 35
  • 88.04 (n)
  • 89.42 (a)
Mmp20 16
Mmp20 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MMP20 35
  • 99.45 (n)
  • 99.17 (a)
MMP20 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mmp20 35
  • 87.07 (n)
  • 88.59 (a)
oppossum
(Monodelphis domestica)
Mammalia MMP20 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 45 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia MMP20 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmp20 35
  • 70.62 (n)
  • 72.89 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100329766 35
  • 56 (n)
  • 45.47 (a)
MMP20 (1 of 2) 36
  • 39 (a)
OneToMany
mmp20a 36
  • 43 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 33 (a)
OneToMany
Species with no ortholog for MMP20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MMP20 Gene

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

Paralogs for MMP20 Gene

Selected SIMAP similar genes for MMP20 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MMP20: view

Variants for MMP20 Gene

Sequence variations from dbSNP and Humsavar for MMP20 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs751547 -- 102,598,186(-) CTATA(A/G)GTCTA intron-variant
rs1317947 -- 102,617,342(-) AAAGG(C/T)GTATT intron-variant
rs1320055 -- 102,610,772(-) CTTTT(A/T)AAAAA intron-variant
rs1573954 -- 102,625,829(-) GAGCC(A/G)TCATT upstream-variant-2KB
rs1612069 -- 102,597,304(-) CATTC(A/C)AGATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MMP20 Gene

Variant ID Type Subtype PubMed ID
nsv462 CNV Insertion 18451855
nsv832252 CNV Gain 17160897
nsv826061 CNV Loss 20364138
esv2744991 CNV Deletion 23290073
esv2744992 CNV Deletion 23290073
esv7543 CNV Loss 19470904
esv33374 CNV Loss 17666407
nsv507614 CNV Insertion 20534489
esv33621 CNV Loss 17666407

Relevant External Links for MMP20 Gene

HapMap Linkage Disequilibrium report
MMP20
Human Gene Mutation Database (HGMD)
MMP20

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMP20 Gene

Disorders for MMP20 Gene

(1) OMIM Diseases for MMP20 Gene (604629)

UniProtKB/Swiss-Prot

MMP20_HUMAN
  • 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. {ECO:0000269 PubMed:15744043}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) Novoseek inferred disease relationships for MMP20 Gene

Disease -log(P) Hits PubMed IDs
amelogenesis imperfecta 94.5 10
odontogenic cyst calcifying 80.6 2
ameloblastoma 58.8 1
odontogenic tumors 58 5
tumors 0 2

Relevant External Links for MMP20

Genetic Association Database (GAD)
MMP20
Human Genome Epidemiology (HuGE) Navigator
MMP20
genes like me logo Genes that share disorders with MMP20: view

No data available for Genatlas for MMP20 Gene

Publications for MMP20 Gene

  1. Identification and structural and functional characterization of human enamelysin (MMP-20). (PMID: 9398237) Llano E. … Lopez-Otin C. (Biochemistry 1997) 2 3 4 23
  2. Matrix metalloproteinases 19 and 20 cleave aggrecan and cartilage oligomeric matrix protein (COMP). (PMID: 10922468) Stracke J.O. … Knaeuper V. (FEBS Lett. 2000) 3 4 23
  3. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. (PMID: 15744043) Kim J.-W. … Hu J.C.-C. (J. Med. Genet. 2005) 3 4 23
  4. JNK/c-Jun signaling pathway mediates the fluoride-induced down-regulation of MMP-20 in vitro. (PMID: 17611094) Zhang Y. … Denbesten P.K. (Matrix Biol. 2007) 3 23
  5. Catalytic domain of MMP20 (Enamelysin) - the NMR structure of a new matrix metalloproteinase. (PMID: 17869250) Arendt Y. … Gonnelli L. (FEBS Lett. 2007) 4 23

Products for MMP20 Gene

Sources for MMP20 Gene

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