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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)

(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)
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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 ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	IEA	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005615	extracellular space	TAS	2834383
GO:0005886	plasma membrane	IEA	--
GO:0030017	sarcomere	IEA	--

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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 Abpromise^SM
	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

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/size	homeostasis/metabolism	immune system	lethality-prenatal/perinatal
muscle	nervous system	normal	respiratory system	skeleton
tumorigenesis

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004222	metalloendopeptidase activity	TAS	2834383
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	15146192
GO:0008233	peptidase activity	IEA	--
GO:0008270	zinc ion binding	TAS	2834383

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.)
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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

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Gene Network Central^TM Interacting Genes and Proteins Network for MMP2

5/167 Interacting proteins for MMP2 (ENSP00000219070³ P08253¹) via UniProtKB, MINT, and/or STRING (see all 167 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HSP90AA1	P07900¹	EBI-1033518, EBI-296047
TIMP2	ENSP00000262768³	STRING (score=.999)
TIMP1	ENSP00000218388³	STRING (score=.995)
TIMP4	ENSP00000287814³	STRING (score=.99)
CXCL12	ENSP00000363548³	STRING (score=.989)

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001666	response to hypoxia	IEA	--
GO:0001955	blood vessel maturation	IEA	--
GO:0006508	proteolysis	TAS	2834383
GO:0008152	metabolic process	IEA	--
GO:0030574	collagen catabolic process	IEA	--

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(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

Compound	Action	CAS number
ARP 100	Selective inhibitor of MMP-2	[704888-90-4]
ARP 101	Inhibitor of MMP-2
Batimastat	Potent, broad spectrum MMP inhibitor	[130370-60-4]

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

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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)	Mmp2^{1, 5}	8 (44.00 cM)⁵	matrix metallopeptidase 2^{1, 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)

AB	SNP ID	Valid	Chr 16 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs243831^1,2	A,C,F,H,O	54098328(+)	`TGCTTT/GCTTCT`	1	--	ng3¹		14	EU EA WA NA NS	1362
	rs2052265^1,2	C,F,H,O	54098306(+)	`CACAGC/GTAAGG`	1	--	ng3¹		7	EU EA WA NA	560
	rs243830^1,2	A,C,F,H	54098363(+)	`AGCTCG/CTTACT`	1	--	ng3¹		11	EU EA WA NS	1246
	rs2052264^1,2	C,F,H,O	54097917(+)	`TAAGTC/TTGTTT`	2	--	ut3¹ ese³		7	EU EA WA NA	560
--	rs11865501^1,2	A,C,F,H	54098257(+)	`AAAACC/G/TGCTCC`	1	--	ng3¹		4	NS EU EA	424
	rs7201^1,2	A,C,F,H	54097115(+)	`GAGATA/CCTTTG`	2	--	ut3¹		15	MN NA NS EA EU WA	1484
	rs243866^1,2	C,F,H,O	54069038(+)	`TAATCG/ATGACC`	1	--	ng5¹ tfbs³		20	MN EU EA WA NS	2278
	rs243865^1,2	A,C,F,H	54069307(+)	`cactcC/Tacctc`	1	--	ng5¹		15	EU EA WA NS MN CSAM	2908
	rs1030870^1,2	A,C,F,H	54073094(-)	`TGCCTC/TTGGAC`	2	--	ut5¹ int¹		11	EU EA WA NS	1236
--	rs1030869^1,2	A,C,F	54073122(-)	`gagttA/Gtcttc`	2	--	int¹ ut5¹		1	NS	178

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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)

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1 PharmGKB disease relationship for MMP2 gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Esophageal Neoplasms	CO GN	15492291

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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 ):

Functional haplotypes in the promoter of matrix metalloproteinase-2 predict risk of the occurrence and metastasis of esophageal cancer. (PubMed id 15492291)^{1, 3, 6, 7} Yu C....Lin D. (2004)
Substantial reduction in risk of breast cancer associated with genetic polymorphisms in the promoters of the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 genes. (PubMed id 14604886)^{1, 3, 6} Zhou Y....Lin D. (2004)
[Association of functional polymorphisms in matrix metalloproteinase-2 (MMP-2) and MMP-9 genes with risk of gastric cancer in a Chinese population.] (PubMed id 15522165)^{1, 3, 6} Zhang X.M....Lin D.X. (2004)
Functional haplotypes in the promoter of matrix metalloproteinase-2 and lung cancer susceptibility. (PubMed id 15731163)^{1, 3, 6} Zhou Y....Lin D. (2005)
Genotype-phenotype relationships in an investigation of the role of proteases in abdominal aortic aneurysm expansion. (PubMed id 16082623)^{1, 3, 6} Eriksson P....Powell J.T. (2005)
A single nucleotide polymorphism in the matrix metalloproteinase-2 promoter is associated with colorectal cancer. (PubMed id 15485653)^{1, 3, 6} Xu E....Xia X. (2004)
A functional polymorphism in the matrix metalloproteinase-2 gene promoter (-1306C/T) is associated with risk of development but not metastasis of gastric cardia adenocarcinoma. (PubMed id 12873995)^{1, 3, 6} Miao X....Lin D. (2003)
Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study. (PubMed id 16356191)^{1, 3, 6} Rodriguez-Lopez J....Gonzalez A. (2006)
The role of genetic polymorphisms in the promoters of the matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 genes in head and neck cancer. (PubMed id 16275157)^{1, 3, 6} O-Charoenrat P. and Khantapura P. (2006)
Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2. (PubMed id 15691365)^{1, 3, 4} Zankl A.... Superti-Furga A. (2005)

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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4313	HGNC: 7166	AceView: MMP2	Ensembl:ENSG00000087245	euGenes: HUgn4313
ECgene: MMP2	H-InvDB: MMP2

(According to HUGE)
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(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

Name	Description
ATLAS Chromosomes in Cancer entry for MMP2	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/mmp2/

Licensable Technologies for MMP2
(Available from WIS Yeda, Salk, Tufts)

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(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

Products for MMP2:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for MMP2-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

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Search OriGene for MMP2

Tocris compounds for MMP2

	Assays/Drugs/Proteins for MMP2
	Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for MMP2

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
MMP2 Gene at Home site.
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MMP2 Gene

protein-coding GIFtS: 71

Aliases &
Descriptions
for MMP2

Summaries
for MMP2

Genomic Location
for MMP2

Proteins
for MMP2

Protein Domains/
Families
for MMP2

Gene Function
for MMP2

Pathways & Interactions
for MMP2

Drugs & Compounds
for MMP2

Transcripts
for MMP2

Expression
for MMP2

Orthologs
for MMP2

Paralogs
for MMP2

SNPs/Variants
for MMP2

Disorders & Mutations
for MMP2

Medical News
for MMP2

Publications
for MMP2

Search for MMP2

Genome Databases showing MMP2

Other Databases showing MMP2

Specialized Databases showing MMP2

Licensable Technologies
for MMP2

Services
for MMP2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

MMP2 Gene

protein-coding GIFtS: 71

Aliases & Descriptionsfor MMP2

Summariesfor MMP2

Genomic Locationfor MMP2

Proteinsfor MMP2

Protein Domains/Familiesfor MMP2

Gene Functionfor MMP2

Pathways & Interactionsfor MMP2

Drugs & Compoundsfor MMP2

Transcriptsfor MMP2

Expression for MMP2

Orthologsfor MMP2

Paralogsfor MMP2

SNPs/Variantsfor MMP2

Disorders & Mutationsfor MMP2

Medical Newsfor MMP2

Publicationsfor MMP2

Search for MMP2

Genome Databases showing MMP2

Other Databases showing MMP2

Specialized Databases showing MMP2

Licensable Technologiesfor MMP2

Servicesfor MMP2

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for MMP2

Summaries
for MMP2

Genomic Location
for MMP2

Proteins
for MMP2

Protein Domains/
Families
for MMP2

Gene Function
for MMP2

Pathways & Interactions
for MMP2

Drugs & Compounds
for MMP2

Transcripts
for MMP2

Expression
for MMP2

Orthologs
for MMP2

Paralogs
for MMP2

SNPs/Variants
for MMP2

Disorders & Mutations
for MMP2

Medical News
for MMP2

Publications
for MMP2

Licensable Technologies
for MMP2

Services
for MMP2