Gene Gene information from NCBI Gene database.
Entrez ID 4313
Gene name Matrix metallopeptidase 2
Gene symbol MMP2
Synonyms (NCBI Gene)
CLG4CLG4AMMP-2MMP-IIMONATBE-1
Chromosome 16
Chromosome location 16q12.2
Summary This gene is a member of the matrix metalloproteinase (MMP) gene family, that are zinc-dependent enzymes capable of cleaving components of the extracellular matrix and molecules involved in signal transduction. The protein encoded by this gene is a gelati
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs41459945 G>A,C Uncertain-significance, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121912953 G>A Pathogenic Coding sequence variant, missense variant
rs121912954 C>A,G Pathogenic Coding sequence variant, stop gained
rs121912955 G>A Pathogenic Coding sequence variant, missense variant
rs140172728 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Synonymous variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
685
miRTarBase ID miRNA Experiments Reference
MIRT005570 hsa-miR-29b-3p Luciferase reporter assayqRT-PCRWestern blot 20657750
MIRT005570 hsa-miR-29b-3p Luciferase reporter assayqRT-PCRWestern blot 20657750
MIRT005742 hsa-miR-451a qRT-PCRWestern blot 20816946
MIRT005570 hsa-miR-29b-3p Western blot 23254643
MIRT018099 hsa-miR-335-5p Microarray 18185580
Transcription factors Transcription factors information provided by TRRUST V2 database.
37
Transcription factor Regulation Reference
ATF2 Activation 17079470;17258390
ATF3 Repression 11792711;15102941
CEBPE Unknown 19853299
CREB1 Unknown 10506168
ETS2 Unknown 19939245;22108824
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
99
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0001541 Process Ovarian follicle development IEA
GO:0001542 Process Ovulation from ovarian follicle IEA
GO:0001553 Process Luteinization IEA
GO:0001666 Process Response to hypoxia IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
120360 7166 ENSG00000087245
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P08253
Protein name 72 kDa type IV collagenase (EC 3.4.24.24) (72 kDa gelatinase) (Gelatinase A) (Matrix metalloproteinase-2) (MMP-2) (TBE-1) [Cleaved into: PEX]
Protein function Ubiquitinous metalloproteinase that is involved in diverse functions such as remodeling of the vasculature, angiogenesis, tissue repair, tumor invasion, inflammation, and atherosclerotic plaque rupture. As well as degrading extracellular matrix
PDB 1CK7 , 1CXW , 1EAK , 1GEN , 1GXD , 1HOV , 1J7M , 1KS0 , 1QIB , 1RTG , 3AYU , 7XGJ , 7XJO , 8H78
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01471 PG_binding_1 43 97 Putative peptidoglycan binding domain Domain
PF00413 Peptidase_M10 118 446 Matrixin Domain
PF00040 fn2 233 274 Fibronectin type II domain Domain
PF00040 fn2 291 332 Fibronectin type II domain Domain
PF00040 fn2 349 390 Fibronectin type II domain Domain
PF00045 Hemopexin 475 518 Hemopexin Repeat
PF00045 Hemopexin 520 563 Hemopexin Repeat
PF00045 Hemopexin 568 615 Hemopexin Repeat
PF00045 Hemopexin 617 660 Hemopexin Repeat
Tissue specificity TISSUE SPECIFICITY: Produced by normal skin fibroblasts. PEX is expressed in a number of tumors including gliomas, breast and prostate. {ECO:0000269|PubMed:11751392}.
Sequence
Sequence length 660
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
61
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
MMP2-related disorder Likely pathogenic rs746668134 RCV003393229
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multicentric osteolysis nodulosis arthropathy spectrum Likely pathogenic; Pathogenic rs1962181218, rs745677721, rs2142353661, rs201679510, rs2142349089, rs1369454759, rs1168427805, rs794727916, rs121912954, rs1962580119 RCV001730022
RCV001730023
RCV001805735
RCV001806430
RCV001806439
View all (5 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multicentric osteolysis, nodulosis, and arthropathy Pathogenic; Likely pathogenic rs2142358933, rs1369454759, rs794727916, rs121912953, rs121912954, rs121912955, rs2142358692, rs1567378779 RCV003147666
RCV005412282
RCV003147377
RCV004576903
RCV003147301
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma Likely pathogenic rs746668134 RCV005932799
★★★★☆
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
AORTIC ANEURYSM, THORACIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AORTIC RUPTURE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTERIOSCLEROSIS Disgenet
★★☆☆☆
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
Acne Acne BEFREE 31032338
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 31032338
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 20205165
★☆☆☆☆
Found in Text Mining only
Acquired Kyphoscoliosis Acquired Kyphoscoliosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Acromegaly Acromegaly BEFREE 28332074
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 10362121
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 17706812, 23793312, 24938016, 28988362, 29685010
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 17706812
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 21857898
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 10650782
★☆☆☆☆
Found in Text Mining only