Gene Gene information from NCBI Gene database.
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
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
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
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
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.
MIM HGNC e!Ensembl
120361 7176 ENSG00000100985
Protein Protein information from UniProt database.
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.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
113
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Metaphyseal anadysplasia 2 Pathogenic; Likely pathogenic rs1302101551, rs2515612990, rs139620474 RCV001332545
RCV003219181
RCV003219201
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
ANGINA, STABLE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANGLE CLOSURE GLAUCOMA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM, ABDOMINAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acoustic Neuroma Acoustic Neuroma BEFREE 20205165
★☆☆☆☆
Found in Text Mining only
Acute Cerebrovascular Accidents Stroke BEFREE 22200563, 22342361, 22395947
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 15952124, 17487763
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 17892998, 23377317, 23793312, 24709882, 24938016, 29349668, 29563383
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 20981132
★☆☆☆☆
Found in Text Mining only
Acute encephalopathy Encephalopathy BEFREE 23034800
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17350093, 29896797
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10650782
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 27039800
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 30515825, 31192912
★☆☆☆☆
Found in Text Mining only