MMP20 (matrix metallopeptidase 20)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 9313
Gene name Matrix metallopeptidase 20
Gene symbol MMP20
Synonyms (NCBI Gene)
AI2A2MMP-20
Chromosome 11
Chromosome location 11q22.2
Summary 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 art
miRNA miRNA information provided by mirtarbase database.
7
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT016744 hsa-miR-335-5p Microarray 18185580
MIRT024491 hsa-miR-215-5p Microarray 19074876
MIRT026110 hsa-miR-192-5p Microarray 19074876
MIRT1153356 hsa-miR-4264 CLIP-seq
MIRT1153357 hsa-miR-4276 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
JUN Unknown 17611094
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IDA 9398237
GO:0004222 Function Metalloendopeptidase activity IEA
GO:0004222 Function Metalloendopeptidase activity TAS 9398237
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604629 7167 ENSG00000137674
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60882
Protein name Matrix metalloproteinase-20 (MMP-20) (EC 3.4.24.-) (Enamel metalloproteinase) (Enamelysin)
Protein 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
PDB 2JSD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01471 PG_binding_1 35 → 95 Putative peptidoglycan binding domain Domain
PF00413 Peptidase_M10 116 → 271 Matrixin Domain
PF00045 Hemopexin 347 → 389 Hemopexin Repeat
PF00045 Hemopexin 394 → 441 Hemopexin Repeat
PF00045 Hemopexin 443 → 483 Hemopexin Repeat
Tissue specificity TISSUE SPECIFICITY: Expressed specifically in the enamel organ.
Sequence
Sequence length 483
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Collagen degradation
Degradation of the extracellular matrix
Assembly of collagen fibrils and other multimeric structures
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amelogenesis imperfecta hypomaturation type 2A2 Pathogenic; Likely pathogenic rs587777515, rs587777516, rs786204826, rs140213840, rs761478767, rs759614533, rs781178683, rs916966344, rs1565397250, rs199788797, rs1859555583 RCV000128567
RCV000128568
RCV000169729
RCV000005761
RCV003154849
RCV003154850
RCV003154852
RCV001270296
RCV001270295
RCV001270294
RCV001270297
Gastric cancer Pathogenic rs140213840 RCV005887322
MMP20-related disorder Pathogenic rs140213840 RCV003415660
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs762544632, rs763105283 -
Amelogenesis Imperfecta, Recessive Uncertain significance; Benign rs1491264939, rs144425539, rs886047547, rs886047546, rs886047543 RCV000289827
RCV000347590
RCV000381880
RCV000343672
RCV000260080
Intellectual disability, autosomal dominant 56 Uncertain significance rs767478911 RCV000678269
Malignant lymphoma, large B-cell, diffuse Benign rs1784440, rs1784425 RCV005914819
RCV005916469
Show/Hide Text Mining Associations (25)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 33914777
Adenocarcinoma of Lung Associate 33914777
Amelogenesis Imperfecta Associate 18096894, 18434575, 19530186, 19966041, 20938048, 21597265, 22243262, 31999931, 33600052, 39273410
Amelogenesis Imperfecta hypomaturation type Associate 16246936, 33600052
Amelogenesis imperfecta local hypoplastic form Associate 18096894
Asthma Associate 37569643
Carcinogenesis Associate 30932369
Carcinoma Squamous Cell Associate 36456645
Chromosome Deletion Associate 28924153
Colorectal Neoplasms Associate 30932369