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Aliases for TIMP3 Gene

Aliases for TIMP3 Gene

  • TIMP Metallopeptidase Inhibitor 3 2 3
  • Tissue Inhibitor Of Metalloproteinases 3 3 4
  • Protein MIG-5 3 4
  • TIMP-3 3 4
  • SFD 3 6
  • Tissue Inhibitor Of Metalloproteinase 3 (Sorsby Fundus Dystrophy, Pseudoinflammatory) 2
  • Metalloproteinase Inhibitor 3 3
  • MIG-5 Protein 3
  • HSMRK222 3
  • K222TA2 3
  • K222 3

External Ids for TIMP3 Gene

Previous HGNC Symbols for TIMP3 Gene

  • SFD

Previous GeneCards Identifiers for TIMP3 Gene

  • GC22P029893
  • GC22P031521
  • GC22P033196
  • GC22P016154

Summaries for TIMP3 Gene

Entrez Gene Summary for TIMP3 Gene

  • This gene belongs to the TIMP gene family. The proteins encoded by this gene family are inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix (ECM). Expression of this gene is induced in response to mitogenic stimulation and this netrin domain-containing protein is localized to the ECM. Mutations in this gene have been associated with the autosomal dominant disorder Sorsby's fundus dystrophy. [provided by RefSeq, Jul 2008]

GeneCards Summary for TIMP3 Gene

TIMP3 (TIMP Metallopeptidase Inhibitor 3) is a Protein Coding gene. Diseases associated with TIMP3 include sorsby fundus dystrophy and pseudoinflammatory fundus dystrophy. Among its related pathways are Proteoglycans in cancer and NF-KappaB Family Pathway. GO annotations related to this gene include metalloendopeptidase inhibitor activity. An important paralog of this gene is TIMP4.

UniProtKB/Swiss-Prot for TIMP3 Gene

  • Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15

Gene Wiki entry for TIMP3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMP3 Gene

Genomics for TIMP3 Gene

Regulatory Elements for TIMP3 Gene

Genomic Location for TIMP3 Gene

Start:
32,800,816 bp from pter
End:
32,863,043 bp from pter
Size:
62,228 bases
Orientation:
Plus strand

Genomic View for TIMP3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TIMP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMP3 Gene

Proteins for TIMP3 Gene

  • Protein details for TIMP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35625-TIMP3_HUMAN
    Recommended name:
    Metalloproteinase inhibitor 3
    Protein Accession:
    P35625
    Secondary Accessions:
    • B2RBY9
    • Q5THV4
    • Q9UC74
    • Q9UGS2

    Protein attributes for TIMP3 Gene

    Size:
    211 amino acids
    Molecular mass:
    24145 Da
    Quaternary structure:
    • Interacts with EFEMP1.

    Three dimensional structures from OCA and Proteopedia for TIMP3 Gene

neXtProt entry for TIMP3 Gene

Proteomics data for TIMP3 Gene at MOPED

Post-translational modifications for TIMP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TIMP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TIMP3 (TIMP3)

No data available for DME Specific Peptides for TIMP3 Gene

Domains for TIMP3 Gene

Suggested Antigen Peptide Sequences for TIMP3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P35625

UniProtKB/Swiss-Prot:

TIMP3_HUMAN :
  • P35625
Domain:
  • Contains 1 NTR domain.
Family:
  • Belongs to the protease inhibitor I35 (TIMP) family.
genes like me logo Genes that share domains with TIMP3: view

No data available for Gene Families for TIMP3 Gene

Function for TIMP3 Gene

Molecular function for TIMP3 Gene

GENATLAS Biochemistry: matrix metalloproteinase,tissue inhibitor 3,expressed in retinal pigment epithelium,placenta,localized in extracellular matrix (glycosylated or not form),embedded in intron V of SYN3,inactivated by methylation in uterus,breast,renal,colon,brain carcinomas
UniProtKB/Swiss-Prot Function: Complexes with metalloproteinases (such as collagenases) and irreversibly inactivates them by binding to their catalytic zinc cofactor. May form part of a tissue-specific acute response to remodeling stimuli. Known to act on MMP-1, MMP-2, MMP-3, MMP-7, MMP-9, MMP-13, MMP-14 and MMP-15

Gene Ontology (GO) - Molecular Function for TIMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IBA --
GO:0005515 protein binding IPI 18344519
GO:0008191 metalloendopeptidase inhibitor activity TAS 18638486
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TIMP3: view
genes like me logo Genes that share phenotypes with TIMP3: view

Animal Models for TIMP3 Gene

MGI Knock Outs for TIMP3:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TIMP3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for TIMP3 Gene

Localization for TIMP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMP3 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TIMP3 Gene COMPARTMENTS Subcellular localization image for TIMP3 gene
Compartment Confidence
extracellular 5
cytoskeleton 1
cytosol 1
golgi apparatus 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TIMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005578 proteinaceous extracellular matrix IBA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IBA --
GO:0005634 nucleus IDA 21630459
GO:0031012 colocalizes_with extracellular matrix IDA 20551380
genes like me logo Genes that share ontologies with TIMP3: view

Pathways for TIMP3 Gene

genes like me logo Genes that share pathways with TIMP3: view

Pathways by source for TIMP3 Gene

1 PharmGKB pathway for TIMP3 Gene
2 KEGG pathways for TIMP3 Gene
1 GeneGo (Thomson Reuters) pathway for TIMP3 Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for TIMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0009725 response to hormone IBA --
GO:0010951 negative regulation of endopeptidase activity TAS 18638486
GO:0034097 response to cytokine IBA --
GO:0048553 negative regulation of metalloenzyme activity IBA --
genes like me logo Genes that share ontologies with TIMP3: view

Compounds for TIMP3 Gene

(42) Novoseek inferred chemical compound relationships for TIMP3 Gene

Compound -log(P) Hits PubMed IDs
adamalysin 67.4 1
batimastat 63.7 3
5-aza-2deoxycytidine 48.5 2
o6-methylguanine 47.2 5
tgf beta1 42.4 8
genes like me logo Genes that share compounds with TIMP3: view

Transcripts for TIMP3 Gene

mRNA/cDNA for TIMP3 Gene

(17) Additional mRNA sequences :
(1504) Selected AceView cDNA sequences:
(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TIMP3 Gene

TIMP metallopeptidase inhibitor 3:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TIMP3

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TIMP3 Gene

No ASD Table

Relevant External Links for TIMP3 Gene

GeneLoc Exon Structure for
TIMP3
ECgene alternative splicing isoforms for
TIMP3

Expression for TIMP3 Gene

mRNA expression in normal human tissues for TIMP3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TIMP3 Gene

SOURCE GeneReport for Unigene cluster for TIMP3 Gene Hs.644633

genes like me logo Genes that share expressions with TIMP3: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TIMP3 Gene

Orthologs for TIMP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TIMP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMP3 35
  • 99.37 (n)
  • 100 (a)
TIMP3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TIMP3 35
  • 93.84 (n)
  • 98.1 (a)
TIMP3 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TIMP3 35
  • 93.68 (n)
  • 99.05 (a)
TIMP3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Timp3 35
  • 89.73 (n)
  • 96.21 (a)
Timp3 16
Timp3 36
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TIMP3 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TIMP3 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Timp3 35
  • 89.89 (n)
  • 95.26 (a)
chicken
(Gallus gallus)
Aves -- 36
  • 82 (a)
OneToMany
TIMP3 35
  • 77.73 (n)
  • 81.04 (a)
TIMP3 36
  • 81 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia TIMP3 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia timp3 35
  • 79.23 (n)
  • 80.19 (a)
Species with no ortholog for TIMP3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TIMP3 Gene

ENSEMBL:
Gene Tree for TIMP3 (if available)
TreeFam:
Gene Tree for TIMP3 (if available)

Paralogs for TIMP3 Gene

Paralogs for TIMP3 Gene

Selected SIMAP similar genes for TIMP3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TIMP3: view

Variants for TIMP3 Gene

Sequence variations from dbSNP and Humsavar for TIMP3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
VAR_007508 Sorsby fundus dystrophy (SFD)
VAR_007509 Sorsby fundus dystrophy (SFD)
VAR_007510 Sorsby fundus dystrophy (SFD)
VAR_008290 Sorsby fundus dystrophy (SFD)
VAR_010901 Sorsby fundus dystrophy (SFD)

Structural Variations from Database of Genomic Variants (DGV) for TIMP3 Gene

Variant ID Type Subtype PubMed ID
nsv191249 CNV Insertion 16902084
esv1085289 CNV Insertion 17803354
nsv3599 CNV Loss 18451855

Relevant External Links for TIMP3 Gene

HapMap Linkage Disequilibrium report
TIMP3
Human Gene Mutation Database (HGMD)
TIMP3
Locus Specific Mutation Databases (LSDB)
TIMP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMP3 Gene

Disorders for TIMP3 Gene

(1) OMIM Diseases for TIMP3 Gene (188826)

UniProtKB/Swiss-Prot

TIMP3_HUMAN
  • Sorsby fundus dystrophy (SFD) [MIM:136900]: Rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years. {ECO:0000269 PubMed:7550309, ECO:0000269 PubMed:7894485, ECO:0000269 PubMed:8634721, ECO:0000269 PubMed:8728699, ECO:0000269 PubMed:8981947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(96) Novoseek inferred disease relationships for TIMP3 Gene

Disease -log(P) Hits PubMed IDs
drusen 63.9 6
choroidal dystrophy central areolar 58.4 1
tumors 57.7 154
macular dystrophy, vitelliform 57.2 2
night blindness 53.4 1

Relevant External Links for TIMP3

Genetic Association Database (GAD)
TIMP3
Human Genome Epidemiology (HuGE) Navigator
TIMP3
genes like me logo Genes that share disorders with TIMP3: view

Publications for TIMP3 Gene

  1. Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22. (PMID: 8188246) Apte S.S. … Olsen B.R. (Genomics 1994) 2 3 4 23
  2. Structure and expression in breast tumors of human TIMP-3, a new member of the metalloproteinase inhibitor family. (PMID: 8174111) Uria J.A. … Lopez-Otin C. (Cancer Res. 1994) 3 4 23
  3. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. (PMID: 7550309) Jacobson S.G. … Stone E.M. (Nat. Genet. 1995) 3 4 23
  4. TIMP-3 is expressed in the human retinal pigment epithelium. (PMID: 8806658) Ruiz A.C. … Bok D. (Biochem. Biophys. Res. Commun. 1996) 3 4 23
  5. A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2. (PMID: 12652295) Qi J.H. … Anand-Apte B. (Nat. Med. 2003) 2 3 23

Products for TIMP3 Gene

  • Addgene plasmids for TIMP3

Sources for TIMP3 Gene

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