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Aliases for MMP2 Gene

Aliases for MMP2 Gene

  • Matrix Metallopeptidase 2 2 3 5
  • Matrix Metalloproteinase-2 3 4
  • CLG4A 3 4
  • MMP-2 3 4
  • TBE-1 3 4
  • Matrix Metalloproteinase 2 (Gelatinase A, 72kDa Gelatinase, 72kDa Type IV Collagenase) 2
  • Matrix Metallopeptidase 2 (Gelatinase A, 72kDa Gelatinase, 72kDa Type IV Collagenase) 3
  • Matrix Metalloproteinase-II 3
  • 72 KDa Type IV Collagenase 3
  • Collagenase Type IV-A 3
  • Neutrophil Gelatinase 3
  • 72 KDa Gelatinase 4
  • Gelatinase A 4
  • EC 3.4.24.24 4
  • MMP-II 3
  • MONA 3
  • CLG4 3

External Ids for MMP2 Gene

Previous HGNC Symbols for MMP2 Gene

  • CLG4
  • CLG4A

Previous GeneCards Identifiers for MMP2 Gene

  • GC16P045928
  • GC16P055478
  • GC16P055161
  • GC16P055291
  • GC16P054070
  • GC16P041400

Summaries for MMP2 Gene

Entrez Gene Summary for MMP2 Gene

  • 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 gelatinase A, type IV collagenase, that contains three fibronectin type II repeats in its catalytic site that allow binding of denatured type IV and V collagen and elastin. Unlike most MMP family members, activation of this protein can occur on the cell membrane. This enzyme can be activated extracellularly by proteases, or, intracellulary by its S-glutathiolation with no requirement for proteolytical removal of the pro-domain. This protein is thought to be involved in multiple pathways including roles in the nervous system, endometrial menstrual breakdown, regulation of vascularization, and metastasis. Mutations in this gene have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]

CIViC summary for MMP2 Gene

GeneCards Summary for MMP2 Gene

MMP2 (Matrix Metallopeptidase 2) is a Protein Coding gene. Diseases associated with MMP2 include Multicentric Osteolysis, Nodulosis, And Arthropathy and Arthropathy. Among its related pathways are Cell adhesion_ECM remodeling and Apoptotic Pathways in Synovial Fibroblasts. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and metallopeptidase activity. An important paralog of this gene is MMP9.

UniProtKB/Swiss-Prot for MMP2 Gene

  • 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 proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly- -Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. Involved in the formation of the fibrovascular tissues in association with MMP14.

  • PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels.

  • Isoform 2: Mediates the proteolysis of CHUK/IKKA and initiates a primary innate immune response by inducing mitochondrial-nuclear stress signaling with activation of the pro-inflammatory NF-kappaB, NFAT and IRF transcriptional pathways.

Tocris Summary for MMP2 Gene

  • Matrix metalloproteases (matrix metalloproteinase, MMPs), also called matrixins, are zinc-dependent endopeptidases and the major proteases in ECM degradation. MMPs are capable of degrading several extracellular molecules and a number of bioactive molecules.

Gene Wiki entry for MMP2 Gene

Additional gene information for MMP2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MMP2 Gene

Genomics for MMP2 Gene

GeneHancer (GH) Regulatory Elements for MMP2 Gene

Promoters and enhancers for MMP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J055475 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.2 +89.7 89717 7.6 MXI1 ZNF777 FOXA2 ZBTB6 SIN3A ZMYM3 CEBPG ZIC2 ETS1 ZNF335 GC16P055479 GC16P055480 MMP2 ENSG00000279030
GH16J055508 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.5 +119.7 119737 2.6 ELF3 RB1 ZNF133 ARID4B SIN3A GLI4 KLF14 ZNF2 ZNF48 ZNF335 LPCAT2 MMP2 ENSG00000261997
GH16J055835 Enhancer 1.2 FANTOM5 ENCODE 10.4 +446.5 446505 1.9 ELF3 PKNOX1 FOXA2 MLX ARID4B ZSCAN9 RAD21 RARA YY1 EGR1 CES1 MMP2 CES5A
GH16J055437 Enhancer 1 FANTOM5 Ensembl ENCODE 11 +48.4 48383 1.4 NR2F1 JUNB CEBPB CEBPG EP300 FOSL1 POLR2A STAT3 ATF7 MYC MMP2-AS1 MMP2 LPCAT2 GC16P055429
GH16J055623 Enhancer 1 ENCODE 10.8 +233.7 233744 0.3 FOXA2 MLX ARID4B DMAP1 SLC30A9 ZNF766 ZNF143 FOS SP5 NFYC CAPNS2 MMP2 SLC6A2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MMP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MMP2 gene promoter:
  • SRF (504 AA)
  • SRF
  • Sp1

Genomic Locations for MMP2 Gene

Genomic Locations for MMP2 Gene
chr16:55,389,700-55,506,691
(GRCh38/hg38)
Size:
116,992 bases
Orientation:
Plus strand
chr16:55,423,612-55,540,603
(GRCh37/hg19)
Size:
116,992 bases
Orientation:
Plus strand

Genomic View for MMP2 Gene

Genes around MMP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MMP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MMP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MMP2 Gene

Proteins for MMP2 Gene

  • Protein details for MMP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08253-MMP2_HUMAN
    Recommended name:
    72 kDa type IV collagenase
    Protein Accession:
    P08253
    Secondary Accessions:
    • B2R6U1
    • B4DWH3
    • E9PE45
    • Q9UCJ8

    Protein attributes for MMP2 Gene

    Size:
    660 amino acids
    Molecular mass:
    73882 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts (via the C-terminal hemopexin-like domains-containing region) with the integrin alpha-V/beta-3; the interaction promotes vascular invasion in angiogenic vessels and melamoma cells. Interacts (via the C-terminal PEX domain) with TIMP2 (via the C-terminal); the interaction inhibits the degradation activity. Interacts with GSK3B.

    Three dimensional structures from OCA and Proteopedia for MMP2 Gene

    Alternative splice isoforms for MMP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MMP2 Gene

Post-translational modifications for MMP2 Gene

  • Phosphorylation on multiple sites modulates enzymatic activity. Phosphorylated by PKC in vitro.
  • The propeptide is processed by MMP14 (MT-MMP1) and MMP16 (MT-MMP3). Autocatalytic cleavage in the C-terminal produces the anti-angiogenic peptide, PEX. This processing appears to be facilitated by binding integrinv/beta3.
  • Glycosylation at Asn642 and isoforms=2, 3573
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for MMP2

No data available for DME Specific Peptides for MMP2 Gene

Domains & Families for MMP2 Gene

Gene Families for MMP2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for MMP2 Gene

Graphical View of Domain Structure for InterPro Entry

P08253

UniProtKB/Swiss-Prot:

MMP2_HUMAN :
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
  • Belongs to the peptidase M10A family.
Domain:
  • The conserved cysteine present in the cysteine-switch motif binds the catalytic zinc ion, thus inhibiting the enzyme. The dissociation of the cysteine from the zinc ion upon the activation-peptide release activates the enzyme.
Family:
  • Belongs to the peptidase M10A family.
genes like me logo Genes that share domains with MMP2: view

Function for MMP2 Gene

Molecular function for MMP2 Gene

UniProtKB/Swiss-Prot 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 proteins, can also act on several nonmatrix proteins such as big endothelial 1 and beta-type CGRP promoting vasoconstriction. Also cleaves KISS at a Gly- -Leu bond. Appears to have a role in myocardial cell death pathways. Contributes to myocardial oxidative stress by regulating the activity of GSK3beta. Cleaves GSK3beta in vitro. Involved in the formation of the fibrovascular tissues in association with MMP14.
UniProtKB/Swiss-Prot Function:
PEX, the C-terminal non-catalytic fragment of MMP2, posseses anti-angiogenic and anti-tumor properties and inhibits cell migration and cell adhesion to FGF2 and vitronectin. Ligand for integrinv/beta3 on the surface of blood vessels.
UniProtKB/Swiss-Prot Function:
Isoform 2: Mediates the proteolysis of CHUK/IKKA and initiates a primary innate immune response by inducing mitochondrial-nuclear stress signaling with activation of the pro-inflammatory NF-kappaB, NFAT and IRF transcriptional pathways.
UniProtKB/Swiss-Prot CatalyticActivity:
Cleavage of gelatin type I and collagen types IV, V, VII, X. Cleaves the collagen-like sequence Pro-Gln-Gly- -Ile-Ala-Gly-Gln.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by histatin-3 1/24 (histatin-5).
UniProtKB/Swiss-Prot Induction:
Aspirin appears to inhibit expression.
GENATLAS Biochemistry:
matrix metalloproteinase 2,regulator in matrix remodeling,mainly expressed in placenta,lung,pancreas,ovary,spleen and intestine,involved in pathophysiology of malignant gliomas by glial invasion and angiogenesis,overexpressed in inflammatory bowel diseases

Enzyme Numbers (IUBMB) for MMP2 Gene

LifeMap Function Summary for MMP2 Gene

During embryonic development, MMP2 as signaling molecule is secreted from the following cells
It affects the following cells:

Phenotypes From GWAS Catalog for MMP2 Gene

Gene Ontology (GO) - Molecular Function for MMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA,TAS --
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005515 protein binding IPI 20979576
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA,IDA 24236012
genes like me logo Genes that share ontologies with MMP2: view
genes like me logo Genes that share phenotypes with MMP2: view

Human Phenotype Ontology for MMP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MMP2 Gene

MGI Knock Outs for MMP2:

Animal Model Products

Clone Products

  • Addgene plasmids for MMP2

No data available for Transcription Factor Targets and HOMER Transcription for MMP2 Gene

Localization for MMP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MMP2 Gene

Isoform 1: Secreted, extracellular space, extracellular matrix. Membrane. Nucleus. Note=Colocalizes with integrin alphaV/beta3 at the membrane surface in angiogenic blood vessels and melanomas. Found in mitochondria, along microfibrils, and in nuclei of cardiomyocytes.
Isoform 2: Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MMP2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
mitochondrion 5
nucleus 5
cytoskeleton 3
cytosol 3
endoplasmic reticulum 2
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS,IDA 18492766
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
genes like me logo Genes that share ontologies with MMP2: view

Pathways & Interactions for MMP2 Gene

genes like me logo Genes that share pathways with MMP2: view

SIGNOR curated interactions for MMP2 Gene

Activates:

Gene Ontology (GO) - Biological Process for MMP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA --
GO:0001666 response to hypoxia IEA --
GO:0001955 blood vessel maturation IEA --
GO:0001957 intramembranous ossification IEA --
GO:0006508 proteolysis IEA,IDA 15863497
genes like me logo Genes that share ontologies with MMP2: view

Drugs & Compounds for MMP2 Gene

(110) Drugs for MMP2 Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Marimastat Approved, Investigational Pharma inhibitor, Target MMPs inhibitor,board spectrum 4
Captopril Approved Pharma Inhibition, Inhibitor, Target, inhibitor ACE inhibitor, ACE inhibitor; also inhibits LTA4 hydrolase 37
tiludronate Approved, Investigational, Vet_approved Pharma 2
calcium Approved Nutra 0
SC-74020 Experimental Pharma Target 0

(51) Additional Compounds for MMP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for MMP2 Gene

Compound Action Cas Number
ARP 100 Selective inhibitor of MMP-2 704888-90-4
ARP 101 Inhibitor of MMP-2 849773-63-3
PD 166793 Broad spectrum MMP inhibitor 199850-67-4
genes like me logo Genes that share compounds with MMP2: view

Transcripts for MMP2 Gene

Unigene Clusters for MMP2 Gene

Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase):
Representative Sequences:

Clone Products

  • Addgene plasmids for MMP2

Alternative Splicing Database (ASD) splice patterns (SP) for MMP2 Gene

No ASD Table

Relevant External Links for MMP2 Gene

GeneLoc Exon Structure for
MMP2
ECgene alternative splicing isoforms for
MMP2

Expression for MMP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MMP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MMP2 Gene

This gene is overexpressed in Amniocyte (49.4) and Serum (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MMP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MMP2 Gene:

MMP2

SOURCE GeneReport for Unigene cluster for MMP2 Gene:

Hs.513617

mRNA Expression by UniProt/SwissProt for MMP2 Gene:

P08253-MMP2_HUMAN
Tissue specificity: Produced by normal skin fibroblasts. PEX is expressed in a number of tumors including gliomas, breast and prostate.

Evidence on tissue expression from TISSUES for MMP2 Gene

  • Nervous system(4.9)
  • Lung(4.7)
  • Bone(4)
  • Muscle(4)
  • Skin(3.9)
  • Heart(3.7)
  • Intestine(3.4)
  • Kidney(3.3)
  • Blood(3.1)
  • Gall bladder(3.1)
  • Eye(3)
  • Lymph node(3)
  • Liver(2.9)
  • Pancreas(2.9)
  • Stomach(2.8)
  • Spleen(2.2)
  • Thyroid gland(2.2)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MMP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MMP2: view

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners for MMP2 Gene

Orthologs for MMP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MMP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MMP2 34 33
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MMP2 34 33
  • 91.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MMP2 34 33
  • 90.69 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mmp2 16 34 33
  • 89.44 (n)
rat
(Rattus norvegicus)
Mammalia Mmp2 33
  • 88.43 (n)
oppossum
(Monodelphis domestica)
Mammalia MMP2 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MMP2 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MMP2 34 33
  • 75.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MMP2 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mmp2 33
  • 73.54 (n)
African clawed frog
(Xenopus laevis)
Amphibia Mmp2 33
zebrafish
(Danio rerio)
Actinopterygii mmp2 34 33 33
  • 72.19 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12093 33
worm
(Caenorhabditis elegans)
Secernentea H19M22.3 34
  • 22 (a)
ManyToMany
zmp-1 34
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1986 34
  • 49 (a)
OneToOne
Species where no ortholog for MMP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MMP2 Gene

ENSEMBL:
Gene Tree for MMP2 (if available)
TreeFam:
Gene Tree for MMP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MMP2: view image

Paralogs for MMP2 Gene

Paralogs for MMP2 Gene

(13) SIMAP similar genes for MMP2 Gene using alignment to 5 proteins:

  • MMP2_HUMAN
  • H3BR66_HUMAN
  • H3BS34_HUMAN
  • H3BV48_HUMAN
  • J3KRB7_HUMAN
genes like me logo Genes that share paralogs with MMP2: view

Variants for MMP2 Gene

Sequence variations from dbSNP and Humsavar for MMP2 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1053605 likely-benign, Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders 55,485,695(+) C/T coding_sequence_variant, synonymous_variant
rs1057518712 uncertain-significance, Multicentric osteolysis, nodulosis and arthropathy 55,485,308(+) A/T coding_sequence_variant, missense_variant
rs1132896 benign, Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders 55,485,623(+) G/C coding_sequence_variant, synonymous_variant
rs11541998 likely-benign, Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders 55,502,851(+) C/G/T coding_sequence_variant, synonymous_variant
rs121912953 pathogenic, Multicentric osteolysis, nodulosis and arthropathy, Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600] 55,483,057(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MMP2 Gene

Variant ID Type Subtype PubMed ID
esv9365 CNV gain 19470904

Variation tolerance for MMP2 Gene

Residual Variation Intolerance Score: 6.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.97; 49.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MMP2 Gene

Human Gene Mutation Database (HGMD)
MMP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MMP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MMP2 Gene

Disorders for MMP2 Gene

MalaCards: The human disease database

(91) MalaCards diseases for MMP2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
multicentric osteolysis, nodulosis, and arthropathy
  • mona
arthropathy
  • ankylosis of ankle and foot joint
nasal cavity squamous cell carcinoma
  • squamous cell carcinoma of nasal cavity
winchester syndrome
  • wnchrs
focal myositis
  • focal nodular myositis
- elite association - COSMIC cancer census association via MalaCards
Search MMP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MMP2_HUMAN
  • Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600]: An autosomal recessive syndrome characterized by severe multicentric osteolysis with predominant involvement of the hands and feet. Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy. {ECO:0000269 PubMed:11431697, ECO:0000269 PubMed:15691365, ECO:0000269 PubMed:16542393}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MMP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MMP2: view

No data available for Genatlas for MMP2 Gene

Publications for MMP2 Gene

  1. Estrogen receptor alpha and matrix metalloproteinase 2 polymorphisms and age-related maculopathy in older women. (PMID: 18359774) Seitzman RL … Study of Osteoporotic Fractures Research Group (American journal of epidemiology 2008) 3 22 44 58
  2. Promoter polymorphisms in matrix metalloproteinases and their inhibitors: few associations with breast cancer susceptibility and progression. (PMID: 17033924) Lei H … Försti A (Breast cancer research and treatment 2007) 3 22 44 58
  3. Regulation of matrix metalloproteinase-2 (MMP-2) activity by phosphorylation. (PMID: 17435175) Sariahmetoglu M … Schulz R (FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2007) 3 4 22 58
  4. Linked common polymorphisms in the gelatinase a promoter are associated with diminished transcriptional response to estrogen and genetic fitness. (PMID: 12657623) Harendza S … Stahl RA (The Journal of biological chemistry 2003) 3 22 44 58
  5. Solution structure and backbone dynamics of the catalytic domain of matrix metalloproteinase-2 complexed with a hydroxamic acid inhibitor. (PMID: 12147339) Feng Y … Stallings WC (Biochimica et biophysica acta 2002) 3 4 22 58

Products for MMP2 Gene

  • Addgene plasmids for MMP2

Sources for MMP2 Gene

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