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    TIMP3 TIMP metallopeptidase inhibitor 3 [ Homo sapiens (human) ]

    Gene ID: 7078, updated on 15-Apr-2018
    Official Symbol
    TIMP3provided by HGNC
    Official Full Name
    TIMP metallopeptidase inhibitor 3provided by HGNC
    Primary source
    HGNC:HGNC:11822
    See related
    Ensembl:ENSG00000100234 MIM:188826; Vega:OTTHUMG00000030784
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SFD; K222; K222TA2; HSMRK222
    Summary
    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]
    Expression
    Broad expression in placenta (RPKM 485.4), fat (RPKM 420.5) and 18 other tissues See more
    Orthologs
    Location:
    22q12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 22 NC_000022.11 (32800816..32863041)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (33196802..33259028)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373002 Neighboring gene synapsin III Neighboring gene RNA, 5S ribosomal pseudogene 497 Neighboring gene long intergenic non-protein coding RNA 1640 Neighboring gene LARGE xylosyl- and glucuronyltransferase 1 Neighboring gene microRNA 4764

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Sorsby fundus dystrophy
    MedGen: C1850938 OMIM: 136900 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    NHGRI GWA Catalog
    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
    NHGRI GWA Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    NHGRI GWA Catalog
    Seven new loci associated with age-related macular degeneration.
    NHGRI GWA Catalog
    • Angiogenesis, organism-specific biosystem (from WikiPathways)
      Angiogenesis, organism-specific biosystemThis pathway is a concise and simplified version of the basic proteins involved in angiogenesis. The proces is regulated by hyopoxia, which results in the transcription of eg. VEGF1, FGF2, PDGFbeta, ...
    • Endochondral Ossification, organism-specific biosystem (from WikiPathways)
      Endochondral Ossification, organism-specific biosystemEndochondral ossification is the process by which the embryonic cartilaginous model of most bones contributes to longitudinal growth and is gradually replaced by bone. During endochondral ossificatio...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • Matrix Metalloproteinases, organism-specific biosystem (from WikiPathways)
      Matrix Metalloproteinases, organism-specific biosystemMatrix metalloproteinases (MMPs) are zinc-dependent endopeptidases; other family members are adamalysins, serralysins, and astacins. The MMPs belong to a larger family of proteases known as the metzi...
    • MicroRNAs in cancer, organism-specific biosystem (from KEGG)
      MicroRNAs in cancer, organism-specific biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • MicroRNAs in cancer, conserved biosystem (from KEGG)
      MicroRNAs in cancer, conserved biosystemMicroRNA (miRNA) is a cluster of small non-encoding RNA molecules of 21 - 23 nucleotides in length, which controls gene expression post-transcriptionally either via the degradation of target mRNAs or...
    • Oncostatin M Signaling Pathway, organism-specific biosystem (from WikiPathways)
      Oncostatin M Signaling Pathway, organism-specific biosystemOncostatin M (OSM) is a member of the multifunctional cytokine interleukin 6 (IL6) - type cytokine family. It is mainly produced in cell types such as activated T lymphocytes, macrophages, monocytes,...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Platelet degranulation, organism-specific biosystem (from REACTOME)
      Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
    • Proteoglycans in cancer, organism-specific biosystem (from KEGG)
      Proteoglycans in cancer, organism-specific biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Proteoglycans in cancer, conserved biosystem (from KEGG)
      Proteoglycans in cancer, conserved biosystemMany proteoglycans (PGs) in the tumor microenvironment have been shown to be key macromolecules that contribute to biology of various types of cancer including proliferation, adhesion, angiogenesis a...
    • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
      Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    metalloendopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    metalloendopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protease binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cellular response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of ERK1 and ERK2 cascade IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of membrane protein ectodomain proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    negative regulation of membrane protein ectodomain proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of metalloendopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    platelet degranulation TAS
    Traceable Author Statement
    more info
     
    positive regulation of TRAIL-activated apoptotic signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    response to cytokine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to hormone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    response to organic substance IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basement membrane IEA
    Inferred from Electronic Annotation
    more info
     
    colocalizes_with extracellular matrix HDA PubMed 
    extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleus HDA PubMed 
    platelet dense granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    metalloproteinase inhibitor 3
    Names
    MIG-5 protein
    TIMP-3
    protein MIG-5
    tissue inhibitor of metalloproteinases 3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009117.1 RefSeqGene

      Range
      5001..67227
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000362.4NP_000353.1  metalloproteinase inhibitor 3 precursor

      See identical proteins and their annotated locations for NP_000353.1

      Status: REVIEWED

      Source sequence(s)
      AF035289, AL023282, BC014277, Z98256
      Consensus CDS
      CCDS13911.1
      UniProtKB/Swiss-Prot
      P35625
      Related
      ENSP00000266085.5, OTTHUMP00000028880, ENST00000266085.6, OTTHUMT00000075672
      Conserved Domains (1) summary
      cd03585
      Location:24200
      NTR_TIMP; NTR domain, TIMP subfamily; TIMPs, or tissue inibitors of metalloproteases, are essential regulators of extracellular matrix turnover and remodeling. They form complexes with matrix metalloproteases (MMPs) and inactivate them irreversibly by ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p12 Primary Assembly

      Range
      32800816..32863041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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