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Aliases for MMP20 Gene

Aliases for MMP20 Gene

  • Matrix Metallopeptidase 20 2 3 5
  • Matrix Metalloproteinase 20 (Enamelysin) 2 3
  • Enamel Metalloproteinase 3 4
  • Enamelysin 2 4
  • MMP-20 3 4
  • Matrix Metalloproteinase-20 3
  • EC 3.4.24.22 61
  • EC 3.4.24.35 61
  • EC 3.4.24.- 4
  • EC 3.4.24 61
  • AI2A2 3

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 Hypomaturation Type. Among its related pathways are Degradation of the extracellular matrix and Integrin Pathway. GO annotations related to this gene include calcium ion binding and metallopeptidase activity. An important paralog of this gene is MMP3.

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 and the major proteases in ECM degradation. MMPs are capable of degrading several extracellular molecules and a number of bioactive molecules.

Gene Wiki entry for MMP20 Gene

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

Genomics for MMP20 Gene

Regulatory Elements for MMP20 Gene

Enhancers for MMP20 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11G102558 1.7 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +64.7 64748 3.4 HDGF TBP PKNOX1 TBL1XR1 FEZF1 ZBTB40 CBX5 ZNF143 RELB ETV6 MMP7 MMP20 ENSG00000256916 BIRC2 MMP10 ANGPTL5 BIRC3
GH11G102311 2 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +307.7 307670 13.2 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX WRNIP1 SIN3A ARID4B FEZF1 ZNF2 BIRC2 BIRC3 ENSG00000256916 MMP20 MMP7 TMEM123
GH11G102445 2 FANTOM5 Ensembl ENCODE dbSUPER 9.8 +173.8 173776 11.2 MLX DMAP1 FEZF1 YY1 ZNF143 ZNF548 ZNF263 SP3 TBX21 SSRP1 BIRC2 DYNC2H1 TMEM123 MMP7 ENSG00000256916 MMP20 BIRC3 LOC101928424 GC11P102396
GH11G102493 1.5 Ensembl ENCODE dbSUPER 11.2 +130.6 130589 2.5 PKNOX1 FOXA2 ARID4B YY1 SLC30A9 FOS SP5 JUNB REST PPARG TMEM123 LOC101928424 ENSG00000256916 MMP20 MMP7 BIRC2
GH11G102476 1.6 Ensembl ENCODE dbSUPER 10.5 +148.2 148220 1.7 HDGF FOXA2 PKNOX1 MLX CREB3L1 ZFP64 SIN3A ARID4B DMAP1 ZNF2 LOC101928424 BIRC2 MMP7 MMP20 ENSG00000256916 MMP1 TMEM123
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MMP20 on UCSC Golden Path with GeneCards custom track

Genomic Location for MMP20 Gene

Chromosome:
11
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

Genes around MMP20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMP20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MMP20 Gene

neXtProt entry for MMP20 Gene

Selected DME Specific Peptides for MMP20 Gene

O60882:
  • VAAHEFGH
  • PRCGVPD
  • GEADIMI
  • DTEKEDVVS
  • NGYIYFF
  • LAHAFAPG
  • EYYSYDERK
  • SFDAVTML
  • VAAHEFGHALGL
  • FFKGPHYW
  • LPKDDVKGIQALYGPR

Post-translational modifications for MMP20 Gene

Other Protein References for MMP20 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MMP20 Gene

Gene Families 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 :
  • 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.
  • Belongs to the peptidase M10A family.
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.
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:0004252 serine-type endopeptidase activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 18434575
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with MMP20: view
genes like me logo Genes that share phenotypes with MMP20: view

Human Phenotype Ontology for MMP20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MMP20 Gene

MGI Knock Outs for MMP20:

Animal Model Products

miRNA for MMP20 Gene

miRTarBase miRNAs that target MMP20

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMP20 gene
Compartment Confidence
extracellular 5
plasma membrane 2
mitochondrion 2
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 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 IEA --
genes like me logo Genes that share ontologies with MMP20: view

Pathways & Interactions for MMP20 Gene

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

Gene Ontology (GO) - Biological Process for MMP20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis TAS,IEA --
GO:0022617 extracellular matrix disassembly IEA --
GO:0030163 protein catabolic process IEA --
GO:0030574 collagen catabolic process TAS --
GO:0070173 regulation of enamel mineralization TAS 18434575
genes like me logo Genes that share ontologies with MMP20: view

No data available for SIGNOR curated interactions for MMP20 Gene

Drugs & Compounds for MMP20 Gene

(11) Drugs for MMP20 Gene - From: DrugBank, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Marimastat Approved, Investigational Pharma Target, inhibitor MMPs inhibitor,board spectrum 4
N-ISOBUTYL-N-[4-METHOXYPHENYLSULFONYL]GLYCYL HYDROXAMIC ACID Experimental Pharma Target 0
Batimastat Experimental Pharma Potent, broad spectrum MMP inhibitor 0
calcium Nutra 0
GI 254023X Pharma Selective inhibitor of ADAM10 metalloprotease, Selective ADAM10 metalloprotease inhibitor 0

(2) Additional Compounds for MMP20 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
TMI 1
287403-39-8

(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
TMI 1 Adam 17 (TACE) and MMP inhibitor; orally bioavailable 287403-39-8
WAY 170523 Potent and selective inhibitor of MMP-13 307002-73-9
genes like me logo Genes that share compounds with MMP20: view

Transcripts for MMP20 Gene

mRNA/cDNA for MMP20 Gene

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

Unigene Clusters for MMP20 Gene

Matrix metallopeptidase 20:
Representative Sequences:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x33.8), Breast - Mammary Tissue (x6.9), and Minor Salivary Gland (x4.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MMP20 Gene



Protein tissue co-expression partners for MMP20 Gene

NURSA nuclear receptor signaling pathways regulating expression of MMP20 Gene:

MMP20

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.

Phenotype-based relationships between genes and organs from Gene ORGANizer for MMP20 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • skeleton
Organs:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
genes like me logo Genes that share expression patterns with MMP20: view

Primer Products

No data available for Protein differential expression in normal tissues and Evidence on tissue expression from 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
chimpanzee
(Pan troglodytes)
Mammalia MMP20 34 35
  • 99.45 (n)
cow
(Bos Taurus)
Mammalia MMP20 34 35
  • 89.54 (n)
mouse
(Mus musculus)
Mammalia Mmp20 34 16 35
  • 88.04 (n)
rat
(Rattus norvegicus)
Mammalia Mmp20 34
  • 87.07 (n)
dog
(Canis familiaris)
Mammalia MMP20 34 35
  • 85.58 (n)
oppossum
(Monodelphis domestica)
Mammalia MMP20 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 45 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia MMP20 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmp20 34
  • 70.62 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100329766 34
  • 56 (n)
mmp20a 35
  • 43 (a)
OneToMany
MMP20 (1 of 2) 35
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 33 (a)
OneToMany
Species where no ortholog for MMP20 was found in the sources mined by GeneCards:
  • 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

(15) SIMAP similar genes for MMP20 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for MMP20 Gene

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
rs140213840 Pathogenic 102,594,759(+) AATCC(A/T)ATGGG splice-acceptor-variant
rs587777515 Pathogenic 102,609,070(+) AATTC(A/T)TGAGC intron-variant, reference, missense
rs587777516 Pathogenic 102,625,218(+) TTCCT(C/G/T)CAGGT intron-variant, upstream-variant-2KB, reference, missense
rs786204826 Pathogenic 102,609,943(-) TACAC(A/G)TTTCG intron-variant, reference, missense
rs11225343 Likely benign 102,608,938(+) TTACC(A/G)TATAA intron-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
dgv710n106 CNV deletion 24896259
esv2744991 CNV deletion 23290073
esv2744992 CNV deletion 23290073
esv33374 CNV loss 17666407
esv33621 CNV loss 17666407
esv3548259 CNV deletion 23714750
esv7543 CNV loss 19470904
nsv1113429 CNV deletion 24896259
nsv1145930 CNV deletion 26484159
nsv462 CNV insertion 18451855
nsv507614 OTHER sequence alteration 20534489
nsv826061 CNV loss 20364138
nsv832252 CNV gain 17160897
nsv957191 CNV deletion 24416366

Variation tolerance for MMP20 Gene

Residual Variation Intolerance Score: 84.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.20; 84.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MMP20 Gene

Human Gene Mutation Database (HGMD)
MMP20
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMP20

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

Disorders for MMP20 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MMP20 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iia2
  • amelogenesis imperfecta hypomaturation type 2a2
amelogenesis imperfecta hypomaturation type
  • aih
amelogenesis imperfecta
  • ai
hypocalcified amelogenesis imperfecta
  • amelogenesis imperfecta type 3
teeth hard tissue disease
- elite association - COSMIC cancer census association via MalaCards
Search MMP20 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for MMP20

Genetic Association Database (GAD)
MMP20
Human Genome Epidemiology (HuGE) Navigator
MMP20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. 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 22 64
  3. 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 22 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  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. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for MMP20 Gene

Sources for MMP20 Gene

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