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MMP2 Gene

protein-coding   GIFtS: 71

GC16P054070
matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
(Previous names: matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase), matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: CLG4, CLG4A)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
CLG4 2
CLG4A 2, 3, 5
EC 3.4.24.24 3
MMP-2 3
MMP-II 2
MONA 2, 5
TBE-1 1, 2, 3
Descriptions
72 kDa gelatinase 3
Gelatinase A 3
Matrix metalloproteinase-2 3
collagenase type IV-A 2
matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase,
72kDa type IV collagenase) 2
matrix metalloproteinase 2 2
matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase,
72kD type IV collagenase) 1
matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase,
72kDa type IV collagenase) 1
matrix metalloproteinase-II 2
neutrophil gelatinase 2
External Ids
HGNC: 71661
Entrez Gene: 43132
UniProtKB: P082533
Ensembl: ENSG000000872457
Search outside databases for aliases for MMP2 gene

Previous GC identifers: GC16P045928 GC16P055478 GC16P055161 GC16P055291

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for MMP2:
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 arthritis and
metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved
by extracellular proteinases. This gene encodes an enzyme which degrades type IV collagen, the
major structural component of basement membranes. The enzyme plays a role in endometrial menstrual
breakdown, regulation of vascularization and the inflammatory response. Mutations in this gene
have been associated with Winchester syndrome and Nodulosis-Arthropathy-Osteolysis (NAO) syndrome.
Two transcript variants encoding different isoforms have been found for this gene. [provided by
RefSeq]

UniProtKB/Swiss-Prot: MMP2_HUMAN, P08253
Function: In addition to gelatin and collagens, it cleaves KiSS1 at a Gly- -Leu bond

Gene Wiki entry for MMP2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MMP2 gene  

Entrez Gene cytogenetic band: 16q13-q21   Ensembl cytogenetic band:  16q12.2   HGNC cytogenetic band: 16q13-q21

MMP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P054070:     (about GC identifiers)

Start:
54,070,589 bp from pter
End:
54,098,104 bp from pter
Size:
27,516 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000016.8  NT_010498.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: MMP2_HUMAN, P08253 (See protein sequence)
Recommended Name: 72 kDa type IV collagenase precursor  
Size: 660 amino acids; 73882 Da
Cofactor: Binds 4 calcium ions per subunit
Cofactor: Binds 2 zinc ions per subunit
Subunit: Ligand for integrin alpha-V/beta-3
Subcellular location: Secreted, extracellular space, extracellular matrix (Probable)
PDB structures from and Proteopedia :
1CK7 (3D)    1CXW (3D)    1EAK (3D)    1GEN (3D)    1GXD (3D)    1HOV (3D)    1J7M (3D)    1KS0 (3D)    
1QIB (3D)    1RTG (3D)    
Secondary accessions: B2R6U1 Q9UCJ8

Post-translational modifications:

  • The propeptide is processed by MMP14 (MT-MMP1) and MMP16 (MT-MMP3)1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001121363.1  NP_004521.1  


    ENSEMBL proteins: 
    ENSP00000219070 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Millipore Purified and/or Recombinant MMP2 Protein
    Sigma-Aldrich Proteins and AQUA Peptides for MMP2  
    R&D Systems Recombinant & Natural Proteins for MMP2 (MMP-2)
    Enzo Life Sciences proteins for MMP2
    Recombinant Proteins from Abcam (MMP2)
    Human Recombinant Proteins from Abnova (MMP2)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005578 proteinaceous extracellular matrix IEA--
    GO:0005615 extracellular space TAS2834383
    GO:0005886 plasma membrane IEA--
    GO:0030017 sarcomere IEA--
    About this table

    Antibodies for MMP2: 
    Invitrogen Antibodies for MMP2
    Millipore Mono- and Polyclonal Antibodies for the study of MMP2
    Sigma-Aldrich Antibodies for MMP2
    R&D Systems Antibodies for MMP2 (MMP-2)
    Antibodies from Abcam (MMP2), each with their AbpromiseSM
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Novus Biologicals Antibodies for MMP2

    Assays for MMP2: 
    Browse Invitrogen for biochemical assays
    Millipore Kits and Assays for the Analysis of MMP2
    R&D Systems ELISAs for MMP2 (MMP-2)         (see all)
    Enzo Life Sciences assays for MMP2

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/8 InterPro domains/families (see all 8 ):
     IPR001818 Pept_M10A_M12B
     IPR002477 Peptidoglycan-bd-like
     IPR000585 Hemopexin/matrixin
     IPR000562 FN_type2_col_bd
     IPR018486 Hemopexin/matrixin_CS


       GeneDecks  MMP2 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P08253

    ProtoNet protein and cluster: P08253

    3 Blocks protein families:
    IPB000562 Type II fibronectin collagen-binding domain
    IPB000585 Hemopexin repeat
    IPB001818 Matrixin


    UniProtKB/Swiss-Prot: MMP2_HUMAN, P08253
    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
    Similarity: Belongs to the peptidase M10A family
    Similarity: Contains 3 fibronectin type-II domains
    Similarity: Contains 4 hemopexin-like domains

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MMP2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MMP2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001127891

                  Applied Biosystems Silencer® siRNAs for MMP2

                  Sigma-Aldrich siRNA and siRNA Panels for MMP2  
                         Sigma-Aldrich shRNA Panels and shRNA for MMP2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for MMP2
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001127891
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001127891
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001127891 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_004530

    UniProtKB/Swiss-Prot: MMP2_HUMAN, P08253
    Function: In addition to gelatin and collagens, it cleaves KiSS1 at a Gly- -Leu bond
    Catalytic activity: Cleavage of gelatin type I and collagen types IV, V, VII, X. Cleaves the
    collagen-like sequence Pro-Gln-Gly- -Ile-Ala-Gly-Gln
    Enzyme regulation: Inhibited by histatin-3 1/24 (histatin-5)
    Enzyme Number (IUBMB): EC 3.4.24.24 

    Genatlas biochemistry entry for MMP2:
    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

    11 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mmp2):

    growth/sizehomeostasis/metabolismimmune systemlethality-prenatal/perinatal
    musclenervous systemnormalrespiratory systemskeleton
    tumorigenesis

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004222 metalloendopeptidase activity TAS2834383
    GO:0005509 calcium ion binding IEA--
    GO:0005515 protein binding IPI15146192
    GO:0008233 peptidase activity IEA--
    GO:0008270 zinc ion binding TAS2834383
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    1 Invitrogen iPath™ Online BioAtlas - Pathway for MMP2 (Maps provided by GeneGo):
     P53 signaling pathway

       GeneDecks  MMP2 for the pathways selected above  
    About GeneDecksing

    4 Millipore Pathways for MMP2
     Transcription Androgen Receptor nuclear signaling
     Cell adhesion ECM remodeling
     Metalloproteases in connective tissue degradation
     Transcription P53 signaling pathway

       GeneDecks  MMP2 for the pathways selected above  
    About GeneDecksing

    5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for  MMP2  (Your Favorite Gene powered by Ingenuity) (see all 6
     IL-8 Signaling
     HIF1&alpha
     Leukocyte Extravasation Signaling
     Hepatic Fibrosis / Hepatic Stellate Cell Activation
     Bladder Cancer Signaling

       GeneDecks  MMP2 for the pathways selected above  
    About GeneDecksing

    4 Kegg Pathways  (Kegg details for MMP2):
     hsa04670 Leukocyte transendothelial migration
     hsa04912 GnRH signaling pathway
     hsa05200 Pathways in cancer
     hsa05219 Bladder cancer

       GeneDecks  MMP2 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  MMP2 


    5/167 Interacting proteins for MMP2 (ENSP000002190703 P082531) via UniProtKB, MINT, and/or STRING (see all 167 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSP90AA1P079001EBI-1033518, EBI-296047
    TIMP2ENSP000002627683STRING (score=.999)
    TIMP1ENSP000002183883STRING (score=.995)
    TIMP4ENSP000002878143STRING (score=.99)
    CXCL12ENSP000003635483STRING (score=.989)
    About this table

    5 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666 response to hypoxia IEA--
    GO:0001955 blood vessel maturation IEA--
    GO:0006508 proteolysis TAS2834383
    GO:0008152 metabolic process IEA--
    GO:0030574 collagen catabolic process IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Enzo Life Sciences drugs & compounds for MMP2
    Sigma-Aldrich Small Molecules for MMP2:
    Inhibitor

    Compounds for MMP2 available from Tocris Bioscience
    CompoundAction CAS number
    ARP 100Selective inhibitor of MMP-2[704888-90-4]
    ARP 101Inhibitor of MMP-2
    BatimastatPotent, broad spectrum MMP inhibitor[130370-60-4]
    About this table


    10/34 Novoseek chemical compound relationships for MMP2 gene (see all 34 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    matrigel 88.33 97 9413149 (4), 8292337 (3), 10491398 (3), 11431735 (2) (see all 72)
    (4-aminophenyl)mercuric acetate 80.90 23 1480033 (3), 2269296 (2), 9628251 (1), 7896811 (1) (see all 9)
    cgs-27023a 64.88 2 15080939 (1), 11948136 (1)
    prinomastat 63.42 6 11060800 (1), 16483784 (1), 10415735 (1), 12456388 (1)
    col 3 62.77 10 12850461 (3), 16205320 (2), 11469893 (1), 11320090 (1) (see all 7)
    hydroxamate 60.72 17 12147339 (2), 12475252 (1), 15781326 (1), 9548812 (1) (see all 8)
    1,10-phenanthroline 57.77 13 10233890 (1), 11433190 (1), 11743663 (1), 14691052 (1) (see all 12)
    thps 50.87 1 12437092 (1)
    procollagen 46.29 22 17283265 (4), 19168518 (2), 15046217 (1), 15347264 (1) (see all 9)
    methyl selenol 45.52 6 11170262 (2), 16702316 (2), 17071627 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (MMP2)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (MMP2)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_001127891

                  Sigma-Aldrich siRNA and siRNA Panels for MMP2  
                         Sigma-Aldrich shRNA Panels and shRNA for MMP2  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001127891  NM_004530  

    REFSEQ mRNAs for MMP2 gene (2 alternative transcripts): 

    NM_001127891.1   NM_004530.4   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001127891  NM_004530  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001127891
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001127891
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001127891 

    Additional cDNA sequence: 

    AK057680.1 AK301536.1 AK310314.1 AK312711.1 AL832088.1 BC002576.2 CR598192.1 CR608838.1 
    CR609745.1 DQ385623.1 J03210.1 X58968.1 

    24/34 DOTS entries (see all 34 ):

    DT.95130460  DT.75124861  DT.100652571  DT.92058175  DT.100762889  DT.101985660  DT.92462977  DT.100637823 
    DT.120668918  DT.120668959  DT.120668954  DT.91892990  DT.95336528  DT.100646179  DT.120668946  DT.120669002 
    DT.95091235  DT.120668909  DT.120668975  DT.92462969  DT.100722515  DT.120668915  DT.120668976  DT.120668979 

    24/601 AceView cDNA sequences (see all 601 ):

    CA414312 BU628539 X58968 BU627923 CA416979 CA430373 BE382786 AA372218 
    AA155667 CO397029 AU133104 BQ182829 AU279704 AA377536 AI086999 BX446048 
    BM725839 BI092637 CA415313 AA513459 CF125592 CA411796 AA371152 BM662474 

    highest scoring ESTs for MMP2:

    AA043583 AA057697 AA063375 AA094786 AA126479 AA126605 AA147284 AA151414 AA155667 AA181955 

    Unigene Cluster for MMP2:

    Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)
    Hs.513617  [show with all ESTs]
    Unigene Representative Sequence: NM_004530


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000219070  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    MMP2 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for MMP2

    1 / 2 / 3

    5 probe-sets matching MMP2 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    39007_at2, 3 U95-A 1 1.00 1.00 0.97 0.75 M55593 0.20 1.00 0.72 1
    56572_at2, 3 U95-C 1 0.75 1.00 0.96 1.26 AA528255 0.60 1.00 0.82 1

    201069_at2, 3 U133-A 1 1.00 1.00 -- -- NM_004530 0.60 1.00 0.82 1

    201069_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1566678_at*2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  MMP2 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GGAAATGTCA

    SOURCE GeneReport for Unigene cluster: Hs.513617

    Expression variation in blood from EXPOLDB for MMP2

    UniProtKB/Swiss-Prot: MMP2_HUMAN, P08253
    Tissue specificity: Produced by normal skin fibroblasts

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for MMP2 gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    MMP21   -- matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, more 91.52(n)
    96.88(a)
    403733  XM_535300.2  XP_535300.2 
    chimpanzee
    (Pan troglodytes)
    MMP21   -- matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, more 99.44(n)
    99.85(a)
    454094  XM_001167520.1  XP_001167520.1 
    cow
    (Bos taurus)
    MMP21   -- matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, more 90.69(n)
    94.99(a)
    282872  NM_174745.2  NP_777170.1 
    rat
    (Rattus norvegicus)
    Mmp21   -- matrix metallopeptidase 2 89.44(n)
    95.76(a)
    81686  NM_031054.1  NP_112316.1 
    mouse
    (Mus musculus)
    Mmp21, 5 8 (44.00 cM)5
    matrix metallopeptidase 21, 5 89.44(n)1
    95.91(a)1
    173901  NM_008610.21  NP_032636.11 
     AB1256685  AK1481845  (see all 57)
    About this table        Species with no ortholog for MMP2

    ENSEMBL Gene Tree for MMP2
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for MMP2 gene
    MMP92  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/350 NCBI SNPs in MMP2 are shown (see all 350 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 127)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 16 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs2438311,2
    A,C,F,H,O54098328(+) TGCTTT/GCTTCT 1 -- ng3114Minor allele frequency- G:0.16EU EA WA NA NS 1362
    rs20522651,2
    C,F,H,O54098306(+) CACAGC/GTAAGG 1 -- ng317Minor allele frequency- G:0.01EU EA WA NA 560
    rs2438301,2
    A,C,F,H54098363(+) AGCTCG/CTTACT 1 -- ng3111Minor allele frequency- C:0.09EU EA WA NS 1246
    rs20522641,2
    C,F,H,O54097917(+) TAAGTC/TTGTTT 2 -- ut31 ese37Minor allele frequency- T:0.01EU EA WA NA 560
    --
    rs118655011,2
    A,C,F,H54098257(+) AAAACC/G/TGCTCC 1 -- ng314NS EU EA 424
    rs72011,2
    A,C,F,H54097115(+) GAGATA/CCTTTG 2 -- ut3115Minor allele frequency- C:0.35MN NA NS EA EU WA 1484
    rs2438661,2
    C,F,H,O54069038(+) TAATCG/ATGACC 1 -- ng51 tfbs320Minor allele frequency- A:0.11MN EU EA WA NS 2278
    rs2438651,2
    A,C,F,H54069307(+) cactcC/Tacctc 1 -- ng5115Minor allele frequency- T:0.08EU EA WA NS MN CSAM 2908
    rs10308701,2
    A,C,F,H54073094(-) TGCCTC/TTGGAC 2 -- ut51 int111Minor allele frequency- T:0.17EU EA WA NS 1236
    --
    rs10308691,2
    A,C,F54073122(-) gagttA/Gtcttc 2 -- int1 ut511Minor allele frequency- G:0.23NS 178
    About this table

    HapMap Linkage Disequilibrium images for MMP2 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 120360   disorders: 259600  

    UniProtKB/Swiss-Prot: MMP2_HUMAN, P08253

  • Defects in MMP2 are the cause of Torg-Winchester syndrome [MIM:259600]; also called
    multicentric osteolysis nodulosis and arthropathy (MONA). Torg-Winchester syndrome is an autosomal
    recessive osteolysis syndrome. It is severe with generalized osteolysis and osteopenia.
    Subcutaneous nodules are usually absent. Torg-Winchester syndrome has been associated with a
    number of additional features including coarse face, corneal opacities, patches of thickened,
    hyperpigmented skin, hypertrichosis and gum hypertrophy. However, these features are not always
    present and have occasionally been observed in other osteolysis syndromes
  • 10/97 Novoseek disease relationships for MMP2 gene (see all 97 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 83.47 790 11594775 (5), 9772533 (5), 11903578 (5), 9291433 (5) (see all 99)
    tumors 78.37 1692 16425263 (7), 16581051 (6), 10366463 (6), 12218298 (6) (see all 99)
    cancer 71.19 509 19360311 (6), 10861469 (5), 8611434 (4), 10971291 (4) (see all 99)
    fibrosarcoma 70.91 66 8530350 (2), 9716492 (2), 15147870 (2), 9718371 (2) (see all 46)
    cancer invasiveness 62.08 8 15349101 (1), 11172680 (1), 15492268 (1), 19056927 (1) (see all 5)
    melanoma 60.35 282 18187184 (10), 10878545 (6), 9875140 (6), 16045689 (6) (see all 99)
    glioma 60.25 190 17593815 (7), 11517976 (6), 15743799 (6), 14756443 (6) (see all 67)
    liver fibrosis 59.98 36 15482348 (4), 18217401 (3), 9397993 (2), 10498646 (2) (see all 23)
    nao syndrome 59.89 3 17563705 (1), 16542393 (1)
    ovarian carcinoma 59.88 65 16124061 (6), 12146034 (3), 11089877 (3), 9338470 (3) (see all 35)
    About this table

    1 PharmGKB disease relationship for MMP2 gene
    Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
    Esophageal NeoplasmsCO  GN  15492291
    About this table

    Human Gene Mutation Database: MMP2
    Genetic Association Database: MMP2
    Human Genome Epidemiology Navigator: MMP2 (95 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/2743 PubMed articles for MMP2 gene (see all 2743 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 4313 HGNC: 7166 AceView: MMP2 Ensembl:ENSG00000087245 euGenes: HUgn4313
    ECgene: MMP2 H-InvDB: MMP2
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for MMP2 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/mmp2/
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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