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TIMP3 Gene

protein-coding   GIFtS: 67
GCID: GC22P033196

TIMP Metallopeptidase Inhibitor 3

(Previous names: tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy,...)
(Previous symbol: SFD)
  See TIMP3-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
TIMP Metallopeptidase Inhibitor 31 2     HSMRK2222
SFD1 2 5     K2222
Protein MIG-52 3     K222TA22
Tissue Inhibitor Of Metalloproteinases 32 3     Metalloproteinase Inhibitor 32
TIMP-32 3     MIG-5 Protein2
Tissue Inhibitor Of Metalloproteinase 3 (Sorsby Fundus Dystrophy,
Pseudoinflammatory)1
     

External Ids:    HGNC: 118221   Entrez Gene: 70782   Ensembl: ENSG000001002347   OMIM: 1888265   UniProtKB: P356253   

Export aliases for TIMP3 gene to outside databases

Previous GC identifers: GC22P029893 GC22P031521 GC22P016154


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 pseudoinflammatory fundus dystrophy, and sorsby fundus dystrophy. GO annotations related to this gene include metalloendopeptidase inhibitor activity. An important paralog of this gene is TIMP4.

UniProtKB/Swiss-Prot: TIMP3_HUMAN, P35625
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 Wiki entry for TIMP3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the TIMP3 gene promoter:
         Sp1   AP-1   ATF-2   COUP   MyoD   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): TIMP3 promoter sequence
   Search Chromatin IP Primers for TIMP3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TIMP3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 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)
TIMP3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P033196:  view genomic region     (about GC identifiers)

Start:
33,196,802 bp from pter      End:
33,259,030 bp from pter
Size:
62,229 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
Subunit: Interacts with EFEMP1
1 PDB 3D structure from and Proteopedia for TIMP3:
3CKI (3D)    
Secondary accessions: B2RBY9 Q5THV4 Q9UC74 Q9UGS2

Explore the universe of human proteins at neXtProt for TIMP3: NX_P35625

Explore proteomics data for TIMP3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TIMP3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000353.1  
    ENSEMBL proteins: 
     ENSP00000266085  

    TIMP3 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TIMP3 (TIMP-3)
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    OriGene Protein Over-expression Lysate for TIMP3
    OriGene Custom MassSpec
    OriGene Custom Protein Services for TIMP3
    GenScript Custom Purified and Recombinant Proteins Services for TIMP3
    Novus Biologicals TIMP3 Proteins
    Novus Biologicals TIMP3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TIMP3

     
    Search eBioscience for Proteins for TIMP3 

     
    antibodies-online proteins for TIMP3 (22 products) 

     
    antibodies-online peptides for TIMP3

    TIMP3 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of TIMP3
    R&D Systems Antibodies for TIMP3 (TIMP-3)
    Cell Signaling Technology (CST) Antibodies for TIMP3 
    OriGene Antibodies for TIMP3
    OriGene Custom Antibody Services for TIMP3
    Novus Biologicals TIMP3 Antibodies
    Abcam antibodies for TIMP3
    Cloud-Clone Corp. Antibodies for TIMP3
    ThermoFisher Antibody for TIMP3
    antibodies-online antibodies for TIMP3 (124 products) 

    TIMP3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for TIMP3
    R&D Systems ELISAs for TIMP3 (TIMP-3)         (see all)
    GenScript Custom Assay Services for TIMP3
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for TIMP3
    Cloud-Clone Corp. CLIAs for TIMP3
    Search eBioscience for ELISAs for TIMP3 
    antibodies-online kits for TIMP3 (41 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR008993 TIMP-like_OB-fold
     IPR027465 TIMP_C_dom
     IPR001134 Netrin_domain
     IPR015612 Tissue_inhib_metalloprotease_3
     IPR001820 Prot_inh_TIMP

    Graphical View of Domain Structure for InterPro Entry P35625

    ProtoNet protein and cluster: P35625

    1 Blocks protein domain: IPB001820 Tissue inhibitor of metalloproteinase

    UniProtKB/Swiss-Prot: TIMP3_HUMAN, P35625
    Similarity: Belongs to the protease inhibitor I35 (TIMP) family
    Similarity: Contains 1 NTR domain


    Find genes that share domains with TIMP3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TIMP3_HUMAN, P35625
    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

         Genatlas biochemistry entry for TIMP3:
    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

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18344519
    GO:0008191metalloendopeptidase inhibitor activity TAS18638486
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with TIMP3           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 4 alleles(MGI details for Timp3) (see all 16):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  muscle  pigmentation  renal/urinary system  respiratory system 

    Find genes that share phenotypes with TIMP3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for TIMP3: Timp3tm1Rkho Timp3tm1Hest Timp3tm1Osya

       genOway: Develop your customized and physiologically relevant rodent model for TIMP3

    miRNA
    Products:
        
    miRTarBase miRNAs that target TIMP3:
    hsa-let-7e-5p (MIRT051454), hsa-mir-103a-3p (MIRT006991), hsa-mir-221-3p (MIRT003452), hsa-mir-30c-2-3p (MIRT038689), hsa-mir-181b-5p (MIRT000637), hsa-mir-423-5p (MIRT038122), hsa-mir-1 (MIRT002807), hsa-mir-18b-5p (MIRT042404), hsa-mir-124-3p (MIRT022537), hsa-mir-222-3p (MIRT003451), hsa-mir-335-5p (MIRT017742), hsa-mir-16-5p (MIRT051091), hsa-mir-21-5p (MIRT000954)

    Block miRNA regulation of human, mouse, rat TIMP3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TIMP3 (see all 95):
    hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-607 hsa-miR-520e hsa-miR-1321 hsa-miR-30d hsa-miR-890 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidTIMP3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TIMP3
    Predesigned siRNA for gene silencing in human, mouse, rat TIMP3

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for TIMP3 (see all 7)
    OriGene ORF clones in mouse, rat for TIMP3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TIMP3 (NM_000362)
    Sino Biological Human cDNA Clone for TIMP3
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMP3
    Addgene plasmids for TIMP3 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for TIMP3 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMP3

    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-14204) for TIMP3 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TIMP3_HUMAN, P35625: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytoskeleton1
    cytosol1
    golgi apparatus1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005604basement membrane IEA--
    GO:0031012colocalizes with extracellular matrix IDA--

    Find genes that share ontologies with TIMP3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for TIMP3 About   (see all 22)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Matrix Metalloproteinases
    Matrix Metalloproteinases0.68
    Inhibition of Matrix Metalloproteinases0.68
    2Apoptotic Pathways in Synovial Fibroblasts
    Mitochondrial Apoptosis0.85
    Rac1 Pathway0.65
    Cellular Apoptosis Pathway0.85
    Glioma Invasiveness0.64
    Apoptotic Pathways in Synovial Fibroblasts0.84
    Actin-Based Motility by Rho Family GTPases0.62
    p53 Mediated Apoptosis0.84
    ERK5 Signaling0.61
    3GPCR Pathway
    Ras Pathway0.73
    Breast Cancer Regulation by Stathmin10.58
    Paxillin Interactions0.73
    NFAT in Immune Response0.58
    GPCR Pathway0.62
    Estrogen Pathway0.55
    Pancreatic Adenocarcinoma0.59
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Nanog in Mammalian ESC Pluripotency
    Nanog in Mammalian ESC Pluripotency0.61
    14-3-3 Induced Intracellular Signaling0.59
    GSK3 Signaling0.61
    eNOS Signaling0.48


    Find genes that share SuperPaths with TIMP3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for TIMP3 (see all 55)
        Nuclear Receptor Activation by Vitamin-A
    Paxillin Interactions
    Telomerase Components in Cell Signaling
    Inhibition of Matrix Metalloproteinases
    Mitochondrial Apoptosis

    2 Cell Signaling Technology (CST) Pathways for TIMP3
        Angiogenesis
    Protein Stability

    1 GeneGo (Thomson Reuters) Pathway for TIMP3
        Cell adhesion ECM remodeling

    4 BioSystems Pathways for TIMP3
        Angiogenesis
    Matrix Metalloproteinases
    Oncostatin M Signaling Pathway
    Endochondral Ossification


    1 PharmGKB Pathway for TIMP3
        VEGF Signaling Pathway

    2 Kegg Pathways  (Kegg details for TIMP3):
        Proteoglycans in cancer
    MicroRNAs in cancer

        Pathway & Disease-focused RT2 Profiler PCR Arrays including TIMP3 (see all 9): 
              Fibrosis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Lymphoma in human mouse rat
              Prostate Cancer in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for TIMP3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for TIMP3 (P356251, 3 ENSP000002660854) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGTR2P500521, 3, ENSP000003609734EBI-1748085,EBI-1748067 I2D: score=1 STRING: ENSP00000360973
    MMP2P082533, ENSP000002190704I2D: score=2 STRING: ENSP00000219070
    MMP9P147803, ENSP000003614054I2D: score=2 STRING: ENSP00000361405
    MMP13P454523, ENSP000002603024I2D: score=1 STRING: ENSP00000260302
    MMP14P502813, ENSP000003082084I2D: score=1 STRING: ENSP00000308208
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0010951negative regulation of endopeptidase activity TAS18638486
    GO:0051045negative regulation of membrane protein ectodomain proteolysis IMP18383040
    GO:0071310cellular response to organic substance IEA--

    Find genes that share ontologies with TIMP3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TIMP3

    Selected Novoseek inferred chemical compound relationships for TIMP3 gene (see all 42)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adamalysin 67.4 1 15095265 (1)
    batimastat 63.7 3 11774278 (1), 16230401 (1), 17216595 (1)
    5-aza-2'deoxycytidine 48.5 2 10797283 (1), 15297175 (1)
    o6-methylguanine 47.2 5 12845678 (1), 16502411 (1), 14654977 (1), 15197802 (1) (see all 5)
    tgf beta1 42.4 8 15599946 (3), 11869079 (3), 15883123 (1), 19625257 (1)
    matrigel 39.1 1 9622064 (1)
    vegf 28.2 19 20060952 (2), 12652295 (2), 12828172 (1), 18097337 (1) (see all 10)
    cysteine 22.4 11 15203191 (1), 9643018 (1), 9760202 (1), 11821400 (1) (see all 10)
    progesterone 22.2 11 9160717 (2), 7588231 (1), 11344207 (1), 19389837 (1) (see all 7)
    tetrahydrofolate 22 3 16981189 (1)



    Find genes that share compounds with TIMP3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TIMP3 gene: 
    NM_000362.4  

    Unigene Cluster for TIMP3:

    TIMP metallopeptidase inhibitor 3
    Hs.644633  [show with all ESTs]
    Unigene Representative Sequence: NM_000362
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000266085(uc003anb.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate TIMP3 (see all 95):
    hsa-miR-323-3p hsa-miR-3607-3p hsa-miR-607 hsa-miR-520e hsa-miR-1321 hsa-miR-30d hsa-miR-890 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidTIMP3 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for TIMP3
    Predesigned siRNA for gene silencing in human, mouse, rat TIMP3
    Clone
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    GenScript: all cDNA clones in your preferred vector: TIMP3 (NM_000362)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMP3
    Addgene plasmids for TIMP3 
    Primer
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    OriGene qPCR primer pairs and template standards for TIMP3
    OriGene qSTAR qPCR primer pairs in human, mouse for TIMP3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TIMP3
      QuantiTect SYBR Green Assays in human, mouse, rat TIMP3
      QuantiFast Probe-based Assays in human, mouse, rat TIMP3
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-14204) for TIMP3 

    Additional mRNA sequence: 

    AF035289.1 AK098517.1 AK298126.1 AK311702.1 AK314871.1 BC014277.2 BT006848.1 CR456593.1 
    D45917.1 L15078.1 S78453.1 U02571.1 U14394.1 U67195.1 X76227.1 X77690.1 
    X80791.1 

    Selected 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.100893485  DT.100893490  DT.100893503  DT.100893508  DT.91707000  DT.100765761  DT.100771946 

    Selected AceView cDNA sequences (see all 1504):

    CR605518 BQ008922 BF726028 BU686884 CR597142 BM713308 BX348014 CR596287 
    AI283619 AA708950 BP345730 CA397974 AW841485 CK820827 CR613766 AI085924 
    CD608266 BM991015 CA950691 BP345057 BQ720803 CD246078 BU193858 BP340859 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    TIMP3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTATTTATGA
    TIMP3 Expression
    About this image


    TIMP3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 29) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Cushion Mesenchymal Cells Endocardium
             Heart Tube
     
     Epithelial Cells
             Early Ameloblasts Dental Enamel
     
     Tooth (Integumentary System)    fully expand to see all 5 entries
             Early Ameloblasts Dental Enamel
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Adult Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Stylopod Long Bone
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
    TIMP3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TIMP3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.644633
        Pathway & Disease-focused RT2 Profiler PCR Arrays including TIMP3 (see all 9): 
              Fibrosis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Lymphoma in human mouse rat
              Prostate Cancer in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for TIMP3
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TIMP3 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Timp31 , 5 tissue inhibitor of metalloproteinase 31, 5 89.73(n)1
    96.21(a)1
      10 (42.83 cM)5
    218591  NM_011595.21  NP_035725.11 
     863003725 
    chicken
    (Gallus gallus)
    Aves TIMP31 TIMP metallopeptidase inhibitor 3 77.73(n)
    81.04(a)
      396483  NM_205487.2  NP_990818.1 
    lizard
    (Anolis carolinensis)
    Reptilia TIMP36
    TIMP metallopeptidase inhibitor 3
    83(a)
    1 ↔ 1
    5(20090367-20129162)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia timp31 TIMP metallopeptidase inhibitor 3 79.23(n)
    80.19(a)
      100489929  XM_002940320.2  XP_002940366.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TIMP3 gene
    TIMP42  TIMP12  TIMP22  
    3 SIMAP similar genes for TIMP3 using alignment to 1 protein entry:     TIMP3_HUMAN:
    TIMP2    TIMP4    TIMP1

    Find genes that share paralogs with TIMP3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    10 SNPs for TIMP3    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0075104
    Sorsby fundus dystrophy (SFD)4--see VAR_0075102 S C mis40--------
    VAR_0075094
    Sorsby fundus dystrophy (SFD)4--see VAR_0075092 Y C mis40--------
    VAR_0109014
    Sorsby fundus dystrophy (SFD)4--see VAR_0109012 G C mis40--------
    VAR_0082904
    Sorsby fundus dystrophy (SFD)4--see VAR_0082902 G C mis40--------
    VAR_0075084
    Sorsby fundus dystrophy (SFD)4--see VAR_0075082 S C mis40--------
    rs1378532981,2
    --pathogenic117177038(+) ATAAAA/TGCATC 2 S C mis10--------
    rs1378532991,2
    --pathogenic117177000(+) CGGCTA/GCTGCA 2 Y C mis10--------
    rs1378533021,2
    --pathogenic117176912(+) AGAACG/TAGTGT 2 E * stg10--------
    rs1378533001,2
    --pathogenic117176964(+) CCAGTC/GCAAAC 2 S C mis10--------
    rs1378533011,2
    --pathogenic117176993(+) AGAAGG/TGCGGC 2 G C mis10--------

    HapMap Linkage Disequilibrium report for TIMP3 (33196802 - 33259030 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TIMP3:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv191249CNV Insertion16902084
    esv1085289CNV Insertion17803354
    nsv3599CNV Loss18451855

    Human Gene Mutation Database (HGMD): TIMP3
    Locus Specific Mutation Databases (LSDB): TIMP3

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for TIMP3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 188826   
    OMIM disorders: 136900  
    UniProtKB/Swiss-Prot: TIMP3_HUMAN, P35625
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for TIMP3:    
    About MalaCards
    pseudoinflammatory fundus dystrophy    sorsby fundus dystrophy    fundus dystrophy    central nervous system lymphoma
    sialadenitis    interstitial nephritis    partial central choroid dystrophy    varicose veins
    diabetic retinopathy    cholangiocarcinoma    proliferative diabetic retinopathy    keratoconus
    pilocytic astrocytoma    age related macular degeneration    colorectal cancer

    4 diseases from the University of Copenhagen DISEASES database for TIMP3:
    Fundus dystrophy     Age related macular degeneration     Carcinoma     Partial central choroid dystrophy

    Find genes that share disorders with TIMP3           About GenesLikeMe

    Selected Novoseek inferred disease relationships for TIMP3 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    drusen 63.9 7 11878827 (2), 11450763 (1), 10476804 (1), 12391305 (1) (see all 5)
    choroidal dystrophy central areolar 58.4 1 9152224 (1)
    tumors 57.7 192 9164653 (5), 19799609 (4), 17032447 (4), 15714128 (4) (see all 99)
    macular dystrophy, vitelliform 57.2 2 17491602 (1), 9152224 (1)
    night blindness 53.4 1 7550309 (1)
    cancer 50.3 56 17032447 (4), 10188875 (4), 18516293 (4), 15467768 (3) (see all 31)
    maculopathy 49.3 2 20385819 (1), 9643018 (1)
    choroidal neovascularization 45.2 7 19478078 (1), 12652295 (1), 8759363 (1), 9006347 (1) (see all 5)
    metastasis 44.8 31 15467768 (3), 17657847 (3), 12828172 (2), 12629131 (2) (see all 21)
    blindness 36.4 5 7920634 (1), 10854443 (1), 12372614 (1), 9112976 (1) (see all 5)

    Genetic Association Database (GAD): TIMP3
    Human Genome Epidemiology (HuGE) Navigator: TIMP3 (27 documents)

    Export disorders for TIMP3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TIMP3 gene, integrated from 10 sources (see all 665):
    (articles sorted by number of sources associating them with TIMP3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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, 9 Apte S.S.... Olsen B.R. (Genomics 1994)
    2. Structural determinants of the ADAM inhibition by TIMP-3: crystal structure of the TACE-N-TIMP-3 complex. (PubMed id 18638486)1, 2, 9 Wisniewska M.... Bode W. (J. Mol. Biol. 2008)
    3. Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations. (PubMed id 15123717)1, 2, 9 Klenotic P.A.... Anand-Apte B. (J. Biol. Chem. 2004)
    4. TIMP-3 is expressed in the human retinal pigment epithelium. (PubMed id 8806658)1, 2, 9 Ruiz A.C.... Bok D. (Biochem. Biophys. Res. Commun. 1996)
    5. Structure and expression in breast tumors of human TIMP-3, a new member of the metalloproteinase inhibitor family. (PubMed id 8174111)1, 2, 9 Uria J.A.... Lopez-Otin C. (Cancer Res. 1994)
    6. Polymorphisms in tissue inhibitors of metalloproteinases-2 and -3 and breast cancer susceptibility and survival. (PubMed id 19431211)1, 4, 9 Peterson N.B....Zheng W. (Int. J. Cancer 2009)
    7. Genetic analysis of polymorphisms in biologically relevant candidate genes in patients with abdominal aortic aneurysms. (PubMed id 15944607)1, 4, 9 Ogata T....Kuivaniemi H. (J. Vasc. Surg. 2005)
    8. 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, 3, 9 Qi J.H....Anand-Apte B. (Nat. Med. 2003)
    9. Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. (PubMed id 20385819)1, 4, 9 Chen W....Swaroop A. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    10. Promoter polymorphisms in matrix metalloproteinases and their inhibitors: few associations with breast cancer susceptibility and progression. (PubMed id 17033924)1, 4, 9 Lei H....FAPrsti A. (Breast Cancer Res. Treat. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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, Kegg, and/or H-InvDB)
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    Entrez Gene: 7078 HGNC: 11822 AceView: TIMP3 Ensembl:ENSG00000100234 euGenes: HUgn7078
    ECgene: TIMP3 Kegg: 7078 H-InvDB: TIMP3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TIMP3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for TIMP3 Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the TIMP3 genehttp://www.retina-international.org/files/sci-news/timpmut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TIMP3[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TIMP3 gene:
    Search GeneIP for patents involving TIMP3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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