MMP20 (matrix metallopeptidase 20)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9313
Gene name Gene Name - the full gene name approved by the HGNC.
Matrix metallopeptidase 20
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MMP20
Synonyms (NCBI Gene) Gene synonyms aliases
AI2A2, MMP-20
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q22.2
Summary Summary of gene provided in NCBI Entrez 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 art
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(7)
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
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
JUN Unknown 17611094
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604629 7167 ENSG00000137674
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Amelogenesis imperfecta Amelogenesis imperfecta hypomaturation type 2A2 rs140213840, rs587777515, rs587777516, rs786204826 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Dementia Dementia N/A N/A GWAS
Mental retardation Intellectual disability, autosomal dominant 56 N/A N/A ClinVar
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (25)
Associations from Text Mining Disease 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