TIMP3 Gene
protein-coding GIFtS : 63
GC22P031521
TIMP metallopeptidase inhibitor 3 (Previous names: tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory) )Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database (Previous symbol: SFD )
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Aliases & Descriptions for TIMP3
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases HSMRK222 2 K222 2 K222TA2 2 SFD 2 , 5 TIMP-3 3
Descriptions MIG-5 protein 2 Protein MIG-5 3 TIMP metallopeptidase inhibitor 3 2 Tissue inhibitor of metalloproteinases 3 3 tissue inhibitor of metalloproteinase 3 2 tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory) 1
Search outside databases for aliases for TIMP3 genePrevious GC identifer: GC22P029893
Summaries for TIMP3 (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for TIMP3 : This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitorsof the matrix metalloproteinases, a group of peptidases involved in degradation of theextracellular matrix (ECM). Expression of this gene is induced in response to mitogenicstimulation and this netrin domain-containing protein is localized to the ECM. Mutations in thisgene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy.[provided by RefSeq] UniProtKB/Swiss-Prot: TIMP3_HUMAN, P35625 Function : Complexes with metalloproteinases (such as collagenases) and irreversibly inactivatesthem. May form part of a tissue-specific acute response to remodeling stimuli. Known to act onMMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15
Gene Wiki entry for TIMP3
Genomic Location for TIMP3
(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
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the TIMP3 gene Entrez Gene cytogenetic band: 22q12.1-q13.2|22q12.3 Ensembl cytogenetic band: 22q12.3 HGNC cytogenetic band: 22q12.3 TIMP3 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 22 GeneLoc Exon Structure
GeneLoc location for GC22P031521:
(about GC identifiers )
Start:
31,526,802 bp from pter
End:
31,589,030 bp from pter
Size:
62,229 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000022.9 NT_011520.11 Proteins for TIMP3
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
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: TIMP3_HUMAN, P35625 (See
protein sequence )Recommended Name: Metalloproteinase inhibitor 3 precursor Size : 211 amino acids; 24145 Da
Subcellular location : Secreted, extracellular space, extracellular matrix
PDB structures from and Proteopedia : 3CKI (3D)
 
Secondary accessions : Q5THV4 Q9UC74 Q9UGS2
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins: NP_000353.1 ENSEMBL proteins: ENSP00000371481 ENSP00000266085 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: TIMP3 2 Gene Ontology (GO) cellular component terms (links to tree view) :
GO ID Qualified GO term Evidence PubMed IDs GO:0005576 extracellular region
IEA -- GO:0005604 basement membrane
IEA --
About this table Antibodies for TIMP3: Assays for TIMP3:
Protein
Domains/ Families for TIMP3(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry P35625 ProtoNet protein and cluster: P35625
1 Blocks protein family : IPB001820 Tissue inhibitor of metalloproteinase UniProtKB/Swiss-Prot: TIMP3_HUMAN, P35625 Similarity : Belongs to the protease inhibitor I35 (TIMP) familySimilarity : Contains 1 NTR domain
Gene Function for TIMP3
(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 .)
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000362 Applied Biosystems Silencer ® siRNAs for TIMP3 Sigma-Aldrich siRNA and siRNA Panels for TIMP3 Sigma-Aldrich shRNA Panels and shRNA for TIMP3 Explore Sigma-Aldrich super-pooled esiRNAs               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000362                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000362                                  untagged cDNA clone in CMV expression vector: NM_000362  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000362 UniProtKB/Swiss-Prot: TIMP3_HUMAN, P35625 Function : Complexes with metalloproteinases (such as collagenases) and irreversibly inactivatesthem. May form part of a tissue-specific acute response to remodeling stimuli. Known to act onMMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15
Genatlas biochemistry entry for TIMP3 :matrix metalloproteinase,tissue inhibitor 3,expressed in retinal pigmentepithelium,placenta,localized in extracellular matrix (glycosylated or not form),embedded inintron V of SYN3,inactivated by methylation in uterus,breast,renal,colon,brain carcinomas
15/17 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Timp3) (see all 17
):3 Gene Ontology (GO) molecular function terms (links to tree view) :
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Pathways & Interactions for TIMP3
(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 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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2 Sigma-Aldrich "Your Favorite Gene" Pathways for TIMP3 (Your Favorite Gene powered by Ingenuity) Gene Network CentralTM Interacting Genes and Proteins Network for TIMP3 5/70 Interacting proteins for TIMP3 (P35625 1 ENSP00000266085 3 ) via UniProtKB, MINT, and/or STRING (see all 70
)About this table 5/7 Gene Ontology (GO) biological process terms (links to tree view) (see all 7
):
GO ID Qualified GO term Evidence PubMed IDs GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
NAS 15609325 GO:0007601 visual perception
IEA -- GO:0014070 response to organic cyclic substance
IEA -- GO:0042246 tissue regeneration
IEA -- GO:0043627 response to estrogen stimulus
IEA --
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Drugs & Compounds for TIMP3 (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 )
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Browse Tocris compounds for TIMP3 10/26 Novoseek chemical compound relationships for TIMP3 gene (see all 26
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
adamalysin
69.76
1
15095265 (1)
o6-methylguanine
48.95
5
12845678 (1), 16502411 (1), 14654977 (1), 15197802 (1) (see all 5 )
tgf beta1
40.42
7
15599946 (3), 11869079 (3), 15883123 (1)
matrigel
38.95
1
9622064 (1)
tetrahydrofolate
23.88
3
16981189 (1)
progesterone
20.53
8
9160717 (2), 7588231 (1), 11344207 (1), 17033924 (1) (see all 6 )
ribonucleic acid
17.48
2
9589682 (2)
glycosaminoglycan
16.43
3
14587283 (2), 11817583 (1)
pd 98,059
8.87
4
15743030 (1), 9794437 (1), 15468069 (1)
lipid
2.17
1
10711711 (1)
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Transcripts for TIMP3(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
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              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000362 Sigma-Aldrich siRNA and siRNA Panels for TIMP3 Sigma-Aldrich shRNA Panels and shRNA for TIMP3 Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000362
REFSEQ mRNAs for TIMP3 gene: NM_000362.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000362
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000362                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000362                                  untagged cDNA clone in CMV expression vector: NM_000362  
Additional cDNA sequence: AF035289.1 AK098517.1 AK298126.1 AK311702.1 AK314871.1 BC014277.2 BT006848.1 CR456593.1 CR591532.1 CR593019.1 CR593372.1 CR593651.1 CR594502.1 CR594958.1 CR595883.1 CR595938.1 CR596287.1 CR597142.1 CR602193.1 CR603101.1 CR604843.1 CR605518.1 CR607327.1 CR608290.1 CR609852.1 CR609959.1 CR610281.1 CR613064.1 CR613128.1 CR613233.1 CR613766.1 CR615393.1 CR615534.1 CR616306.1 CR617133.1 CR617989.1 CR619079.1 CR620436.1 CR620838.1 CR621505.1 CR623084.1 CR624342.1 CR625842.1 CR625847.1 CR625951.1 D45917.1 L15078.1 S78453.1 U02571.1 U14394.1 U67195.1 X76227.1 X77690.1 X80791.1
24/55 DOTS entries (see all 55
): DT.100045220 DT.95100610 DT.95100669 DT.91646034 DT.100829527 DT.95237947 DT.95316138 DT.100830114 DT.100893513 DT.100893530 DT.100893475 DT.101977541 DT.120661402 DT.95100608 DT.100893483 DT.100893520 DT.100893534 DT.100893490 DT.100893503 DT.100893508 DT.91707000 DT.100893485 DT.100765761 DT.100771946
24/1504 AceView cDNA sequences (see all 1504
):BP346421 BM999265 AA330848 BP345616 BQ018545 BI053176 AW518922 CR613128 BX347839 BQ882578 AA297325 AA043121 AA340549 CR613064 BE503072 BF724200 BQ924223 BX509183 CA950691 CA397974 AI085924 BP345057 CD246078 AI753733
highest scoring ESTs for TIMP3 :U14394 AA037049 AA040164 AA040626 AA044304 AA120801 AA127881 AA190453 AA191396 AA192345
Unigene Cluster for TIMP3: TIMP metallopeptidase inhibitor 3 Hs.644633 [show with all ESTs ] Unigene Representative Sequence: NM_000362 GeneLoc Exon Structure 2 Ensembl transcripts including schematic representations : ENST00000382049
ENST00000266085
Expression for TIMP3
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
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
)
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TIMP3 expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TIMP3 1 / 2 / 3
10 probe-sets matching TIMP3 gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TTATTTATGASOURCE GeneReport for Unigene cluster: Hs.644633 Expression variation in blood from EXPOLDB for TIMP3
Orthologs for TIMP3
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TIMP3 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for TIMP3 ENSEMBL Gene Tree for TIMP3 Paralogs for TIMP3 (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for TIMP3 gene TIMP4 2 TIMP1 2 TIMP2 2
SNPs/Variants for TIMP3 (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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Disorders & Mutations for TIMP3
(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 .)
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OMIM: 188826 disorders : 136900 UniProtKB/Swiss-Prot: TIMP3_HUMAN, P35625
Defects in TIMP3 are the cause of Sorsby fundus dystrophy (SFD) [MIM:136900]. SFD is arare autosomal dominant macular disorder with an age of onset in the fourth decade. It ischaracterized by loss of central vision from subretinal neovascularization and atrophy of theocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6months to 6 years
10/97 Novoseek disease relationships for TIMP3 gene (see all 97
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
drusen
65.79
7
11878827 (2), 11450763 (1), 10476804 (1), 12391305 (1) (see all 5 )
choroidal dystrophy central areolar
60.09
1
9152224 (1)
macular dystrophy, vitelliform
59.58
2
17491602 (1), 9152224 (1)
tumors
57.73
181
9164653 (5), 16186800 (4), 15714128 (4), 17032447 (4) (see all 94 )
night blindness
50.66
1
7550309 (1)
cancer
48.43
55
17032447 (4), 10188875 (4), 18516293 (4), 15467768 (3) (see all 30 )
choroidal neovascularization
44.85
5
8759363 (1), 12652295 (1), 9006347 (1), 9112976 (1)
maculopathy
43.74
1
9643018 (1)
metastasis
43.51
31
15467768 (3), 17657847 (3), 12828172 (2), 12629131 (2) (see all 21 )
blindness
39.04
5
7920634 (1), 10854443 (1), 12372614 (1), 9112976 (1) (see all 5 )
About this table Human Gene Mutation Database : TIMP3 Genetic Association Database: TIMP3 Human Genome Epidemiology Navigator: TIMP3 (12 documents)
Medical News for TIMP3 (Possibly Related Articles in
Doctor's Guide )
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Publications for TIMP3 (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/545 PubMed articles for TIMP3 gene (see all 545
): Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22. (PubMed id 8188246) 1, 2, 3, 4 Apte S.S.... Olsen B.R. (1994) TIMP-3 is expressed in the human retinal pigment epithelium. (PubMed id 8806658) 1, 3, 4 Ruiz A.C.... Bok D. (1996) A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2. (PubMed id 12652295) 1, 2, 3 Qi J.H....Anand-Apte B. (2003) Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. (PubMed id 15944607) 1, 3, 6 Ogata T....Kuivaniemi H. (2005) Structure and expression in breast tumors of human TIMP-3, a new member of the metalloproteinase inhibitor family. (PubMed id 8174111) 1, 3, 4 Uria J.A.... Lopez-Otin C. (1994) Tissue inhibitor of metalloproteinases-1, -2, and -3 polymorphisms in a white population with intracranial aneurysms. (PubMed id 14605322) 1, 3, 6 Krex D....Schackert G. (2003) Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. (PubMed id 7550309) 1, 3, 4 Jacobson S.G.... Stone E.M. (1995) Cloning of cDNAs encoding human TIMP-3, a novel member of the tissue inhibitor of metalloproteinase family. (PubMed id 8163205) 1, 3, 4 Silbiger S.M.... Koski R.A. (1994) A novel member of human tissue inhibitor of metalloproteinases (TIMP) gene family is regulated during G1 progression, mitogenic stimulation, differentiation, and senescence. (PubMed id 8034652) 1, 3, 4 Wick M.... Mueller R. (1994) Cloning and characterization of human tissue inhibitor of metalloproteinases-3. (PubMed id 7772252) 1, 3, 4 Wilde C.G.... Seilhamer J.J. (1994)
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Genome Databases showing TIMP3
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TIMP3
(According to HUGE )
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Specialized Databases showing TIMP3 (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
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Name Description
ATLAS Chromosomes in Cancer entry for TIMP3 Genetics and Cytogenetics in Oncology and Haematology Mutations of the TIMP3 gene http://www.retina-international.com/sci-news/timpmut.htm GeneReviews http://www.genetests.org/query?gene=TIMP3
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-- Services for TIMP3 (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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Products for TIMP3:
Search Tocris compounds for TIMP3
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009