MMP12 (matrix metallopeptidase 12)

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.
4321
Gene name Gene Name - the full gene name approved by the HGNC.
Matrix metallopeptidase 12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MMP12
Synonyms (NCBI Gene) Gene synonyms aliases
HME, ME, MME, MMP-12
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.
This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and t
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT021521 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT021521 hsa-miR-145-5p ChIP-seq, qRT-PCR 32221048
MIRT755536 hsa-miR-149-5p qRT-PCR 36250208
MIRT2273236 hsa-miR-4753-3p CLIP-seq
MIRT2273237 hsa-miR-493 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
JUN Unknown 11444842
RELA Activation 20051654
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
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0001046 Function Core promoter sequence-specific DNA binding IMP 24784232
GO:0004175 Function Endopeptidase activity IEA
GO:0004175 Function Endopeptidase activity TAS 8226919
GO:0004222 Function Metalloendopeptidase activity IBA
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
601046 7158 ENSG00000262406
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P39900
Protein name Macrophage metalloelastase (MME) (EC 3.4.24.65) (Macrophage elastase) (ME) (hME) (Matrix metalloproteinase-12) (MMP-12)
Protein function May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with
PDB 1JIZ , 1JK3 , 1OS2 , 1OS9 , 1RMZ , 1ROS , 1UTT , 1UTZ , 1Y93 , 1YCM , 1Z3J , 2HU6 , 2JXY , 2K2G , 2K9C , 2KRJ , 2MLR , 2MLS , 2N8R , 2OXU , 2OXW , 2OXZ , 2POJ , 2W0D , 2WO8 , 2WO9 , 2WOA , 2Z2D , 3BA0 , 3EHX , 3EHY , 3F15 , 3F16 , 3F17 , 3F18 , 3F19 , 3F1A , 3LIK , 3LIL , 3LIR , 3LJG , 3LK8 , 3LKA , 3N2U , 3N2V , 3NX7 , 3RTS , 3RTT , 3TS4 , 3TSK , 3UVC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01471 PG_binding_1 26 → 87 Putative peptidoglycan binding domain Domain
PF00413 Peptidase_M10 108 → 263 Matrixin Domain
PF00045 Hemopexin 288 → 330 Hemopexin Repeat
PF00045 Hemopexin 332 → 375 Hemopexin Repeat
PF00045 Hemopexin 380 → 427 Hemopexin Repeat
PF00045 Hemopexin 429 → 470 Hemopexin Repeat
Tissue specificity TISSUE SPECIFICITY: Found in alveolar macrophages but not in peripheral blood monocytes.
Sequence
Sequence length 470
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
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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 Unknown Diseases (1)
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
Dermatitis Atopic dermatitis N/A N/A GWAS
Show/Hide Text Mining Associations (166)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acro Osteolysis Associate 23334979
Acute Lung Injury Associate 19159011
Adenocarcinoma Associate 19321798
Adenocarcinoma of Lung Associate 25816409, 36650426
Adenomyosis Associate 22853432
Alzheimer Disease Associate 23642232
Anetoderma Associate 28116317
Aneurysm Associate 12103254, 20663866, 29291905, 34091862
Anterior Wall Myocardial Infarction Associate 11877705
Aortic Aneurysm Associate 17997411