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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TIMP3 Gene

protein-coding   GIFtS: 68
GCID: GC22P033196

TIMP Metallopeptidase Inhibitor 3

(Previous names: tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy,...)
(Previous symbol: SFD)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 fundus dystrophy, and pseudoinflammatory fundus dystrophy, and among its related super-pathways are Inhibition of Matrix Metalloproteinases and Rac1 Pathway. GO annotations related to this gene include metalloendopeptidase inhibitor activity and metal ion binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TIMP3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Secreted, extracellular space, extracellular matrix
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35625

  • TIMP3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TIMP3 Protein Expression
    REFSEQ proteins: NP_000353.1  
    ENSEMBL proteins: 
     ENSP00000266085  

    Human Recombinant Protein Products for TIMP3: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for TIMP3 (TIMP-3)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    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 Protein
    Novus Biologicals TIMP3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TIMP3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    TIMP3 for ontologies           About GeneDecksing



    TIMP3 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of TIMP3
    R&D Systems Antibodies for TIMP3 (TIMP-3)
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    Novus Biologicals TIMP3 Antibodies
    Abcam antibodies for TIMP3
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    ThermoFisher Antibody for TIMP3
    LSBio Antibodies in human, mouse, rat for TIMP3 

    Assay Products for TIMP3: 
    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


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


    TIMP3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI18344519
    GO:0008191metalloendopeptidase inhibitor activity TAS18638486
    GO:0046872metal ion binding IEA--
         
    TIMP3 for ontologies           About GeneDecksing


    Phenotypes:
         15/16 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Timp3) (see all 16):
     behavior/neurological  cardiovascular system  cellular  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  liver/biliary system 
     mortality/aging  muscle  pigmentation  renal/urinary system  respiratory system 

    TIMP3 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for TIMP3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TIMP3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TIMP3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TIMP3 

    miRNA
    Products:
        
    miRTarBase miRNAs that target TIMP3:
    hsa-mir-181b (MIRT000637), hsa-mir-1 (MIRT002807), hsa-mir-21 (MIRT000954)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TIMP3
    8/95 QIAGEN miScript miRNA 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
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for TIMP3
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    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
    Sirion Biotech Customized lentivirus for stable overexpression of TIMP3 
                         Customized lentivirus expression plasmids for stable overexpression of TIMP3 

    Cell Line
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    Search LifeMap BioReagents cell lines for TIMP3
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TIMP3


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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
    4Rho Family GTPases
    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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for TIMP3
        Cell adhesion ECM remodeling

    5/55 Downloadable PowerPoint Slides of QIAGEN 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


    TIMP3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TIMP3

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

    5/10 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): 3 biological process terms (GO ID links to tree view):    About this table

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

    TIMP3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TIMP3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TIMP3

    10/42 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)

    Search CenterWatch for drugs/clinical trials and news about TIMP3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/95 QIAGEN miScript miRNA 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
    Products:
         
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TIMP3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TIMP3
    Sirion Biotech Customized lentivirus for stable overexpression of TIMP3 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TIMP3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat 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 

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

    24/1504 AceView cDNA sequences (see all 1504):

    BM694518 BM708984 H97116 CR615534 CA391252 BQ898112 CA396288 CR615393 
    AA708950 BM697809 CA391950 NM_000362 AL542232 CA397974 AA330596 CA396613 
    CF129137 AI750788 F33354 R94304 BX509183 CR624342 CR603101 BF438518 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TIMP3 expression in normal human tissues (normalized intensities)      TIMP3 embryonic expression: see
    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 
     5/31 selected tissues (see all 31) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Stylopod Long Bone
             HyStem+TGFbeta3+GDF5-induced 7PEND24 cells
             Human Calvarial Osteoblasts (HCO)   
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Heart Tube
             Coronary Artery Smooth Muscle Cells (CASMC)   
     
     Fibroblast
             Detroit 551
             X-gene Foreskin Fibroblasts   
     
     Smooth Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Human umbilical Smooth Muscle (HUSM)   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Midgut
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See TIMP3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TIMP3

    SOURCE GeneReport for Unigene cluster: Hs.644633
        SABiosciences Expression via Pathway-Focused 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

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TIMP3
    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TIMP3 gene from 4/11 species (see all 11)    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_205487.1  NP_990818.1 
    lizard
    (Anolis carolinensis)
    Reptilia TIMP36
    Uncharacterized protein
    83(a)
    1 ↔ 1
    5(20090367-20129162)
    fruit fly
    (Drosophila melanogaster)
    Insecta Timp6
    Tissue inhibitor of metalloproteases
    20(a)
    1 → many
    3R(6029597-6038726)


    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)
    About This Section
    Paralogs for TIMP3 gene
    TIMP42  TIMP12  TIMP22  
    3 SIMAP similar genes for TIMP3 using alignment to 1 protein entry:     TIMP3_HUMAN:
    TIMP2    TIMP4    TIMP1

    TIMP3 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10 SNPs in TIMP3 are shown    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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/124 diseases for TIMP3 (see all 124):    About MalaCards
    fundus dystrophy    pseudoinflammatory fundus dystrophy    central nervous system lymphoma    sialadenitis
    choroiditis    interstitial nephritis    partial central choroid dystrophy    diffuse astrocytoma
    diabetic retinopathy    cholangiocarcinoma    proliferative diabetic retinopathy    pilocytic astrocytoma
    refractive error    keratoconus    varicose veins    lymphangioleiomyomatosis
    familial colorectal cancer    ependymoma    blindness    astrocytoma

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

    TIMP3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/96 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)
    About This Section

    PubMed articles for TIMP3 gene, integrated from 9 sources (see all 659):
    (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. (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. (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. (2004)
    4. TIMP-3 is expressed in the human retinal pigment epithelium. (PubMed id 8806658)1, 2, 9 Ruiz A.C.... Bok D. (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. (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. (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. (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. (2003)
    9. Genetic variants near TIMP3 and high-density lipoprot ein-associated loci influence susceptibility to age-related macular degeneratio n. (PubMed id 20385819)1, 4, 9 Chen W....Swaroop 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....Forsti A. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 7078 HGNC: 11822 AceView: TIMP3 Ensembl:ENSG00000100234 euGenes: HUgn7078
    ECgene: TIMP3 Kegg: 7078 H-InvDB: TIMP3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/TIMP3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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