MMP12 (matrix metallopeptidase 12)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4321
Gene name Matrix metallopeptidase 12
Gene symbol MMP12
Synonyms (NCBI Gene)
HMEMEMMEMMP-12
Chromosome 11
Chromosome location 11q22.2
Summary 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.
5
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT021521 hsa-miR-145-5p Reporter assay;Microarray 21351259
MIRT021521 hsa-miR-145-5p ChIP-seqqRT-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 Transcription factors information provided by TRRUST V2 database.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
JUN Unknown 11444842
RELA Activation 20051654
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
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 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
601046 7158 ENSG00000262406
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.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (18)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (631)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 17727250
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke CTD_human_DG 29531354
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 1375695, 17581672, 1774955, 18803279, 2425687, 8630981
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 10654022, 10891460, 11091202, 11264179, 11314021, 11520279, 12087466, 12091331, 12743608, 1351762, 14712291, 15198352, 1548523, 1581585, 16123216
View all (41 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myeloid leukemia, minimal differentiation Myeloid Leukemia BEFREE 9002966
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 2931098
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 15086835, 17574772, 19706765, 24138592, 31282116
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 15945081, 17574772
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Of Esophagus Esophageal Cancer BEFREE 11487270, 19321798
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19949890, 25816409, 30545439
★★★★★
★☆☆☆☆
Found in Text Mining only