MMP9 (matrix metallopeptidase 9)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4318
Gene name Matrix metallopeptidase 9
Gene symbol MMP9
Synonyms (NCBI Gene)
CLG4BGELBMANDP2MMP-9
Chromosome 20
Chromosome location 20q13.12
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
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs41529445 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, missense variant
rs121434556 T>A,C Conflicting-interpretations-of-pathogenicity Missense variant, initiator codon variant
rs144098289 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
43
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT005743 hsa-miR-451a qRT-PCRWestern blot 20816946
MIRT006134 hsa-miR-491-5p Luciferase reporter assayMicroarrayWestern blot 21831363
MIRT006134 hsa-miR-491-5p Luciferase reporter assayMicroarrayWestern blot 21831363
MIRT006134 hsa-miR-491-5p Luciferase reporter assayMicroarrayWestern blot 21831363
MIRT006134 hsa-miR-491-5p Luciferase reporter assayMicroarrayWestern blot 21831363
Transcription factors Transcription factors information provided by TRRUST V2 database.
44
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
CIITA Repression 15247301
ELF3 Repression 18302674
ELF4 Repression 12438253
EP300 Activation 18985009
ETS1 Activation 22270366
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
69
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IEA
GO:0001934 Process Positive regulation of protein phosphorylation IMP 22984561
GO:0004175 Function Endopeptidase activity EXP 9256427, 12062105
GO:0004175 Function Endopeptidase activity IDA 19022250
GO:0004222 Function Metalloendopeptidase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120361 7176 ENSG00000100985
Protein Protein information from UniProt database.
Gene SNPs 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.
P14780
Protein name Matrix metalloproteinase-9 (MMP-9) (EC 3.4.24.35) (92 kDa gelatinase) (92 kDa type IV collagenase) (Gelatinase B) (GELB) [Cleaved into: 67 kDa matrix metalloproteinase-9; 82 kDa matrix metalloproteinase-9]
Protein function Matrix metalloproteinase that plays an essential role in local proteolysis of the extracellular matrix and in leukocyte migration (PubMed:12879005, PubMed:1480034, PubMed:2551898). Could play a role in bone osteoclastic resorption (By similarity
PDB 1GKC , 1GKD , 1ITV , 1L6J , 2OVX , 2OVZ , 2OW0 , 2OW1 , 2OW2 , 4H1Q , 4H2E , 4H3X , 4H82 , 4HMA , 4JIJ , 4JQG , 4WZV , 4XCT , 5CUH , 5I12 , 5TH6 , 5TH9 , 5UE3 , 5UE4 , 6ESM , 8K5V , 8K5W , 8K5X , 8K5Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01471 PG_binding_1 38 → 94 Putative peptidoglycan binding domain Domain
PF00413 Peptidase_M10 115 → 444 Matrixin Domain
PF00040 fn2 230 → 271 Fibronectin type II domain Domain
PF00040 fn2 288 → 329 Fibronectin type II domain Domain
PF00040 fn2 347 → 388 Fibronectin type II domain Domain
PF00045 Hemopexin 521 → 565 Hemopexin Repeat
PF00045 Hemopexin 567 → 608 Hemopexin Repeat
PF00045 Hemopexin 613 → 656 Hemopexin Repeat
PF00045 Hemopexin 661 → 704 Hemopexin Repeat
Tissue specificity TISSUE SPECIFICITY: Detected in neutrophils (at protein level) (PubMed:7683678). Produced by normal alveolar macrophages and granulocytes. {ECO:0000269|PubMed:7683678}.
Sequence
Sequence length 707
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Endocrine resistance
IL-17 signaling pathway
TNF signaling pathway
Leukocyte transendothelial migration
Estrogen signaling pathway
Relaxin signaling pathway
Hepatitis B
Pathways in cancer
Transcriptional misregulation in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Prostate cancer
Bladder cancer
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis 		  Signaling by SCF-KIT
Collagen degradation
Degradation of the extracellular matrix
Activation of Matrix Metalloproteinases
Assembly of collagen fibrils and other multimeric structures
EPH-ephrin mediated repulsion of cells
Interleukin-4 and Interleukin-13 signaling
Neutrophil degranulation
Extra-nuclear estrogen signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Metaphyseal anadysplasia 2 Pathogenic; Likely pathogenic rs1302101551, rs2515612990, rs139620474 RCV001332545
RCV003219181
RCV003219201
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs3918257 RCV005897469
Colorectal cancer Benign rs2274755 RCV005897467
Gastric cancer Conflicting classifications of pathogenicity rs200146604, rs144098289 RCV005924333
RCV005892021
Hepatocellular carcinoma Benign rs2274755 RCV005897465
Show/Hide Text Mining Associations (890)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 32820223
Abortion Spontaneous Associate 30596394, 36564776, 38581334
Abscess Stimulate 34539639
Acne Vulgaris Associate 16185265, 18563181
Actinic cheilitis Associate 21612954, 26515234
Acute Aortic Syndrome Stimulate 30497388
Acute Coronary Syndrome Stimulate 14769218, 21273668, 29211854
Acute Coronary Syndrome Associate 23535507, 24709882, 34239024
Acute Disease Stimulate 17403874
Acute Disease Associate 30429371