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

    Gene ID: 7078, updated on 23-Nov-2023

    Summary

    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; AllianceGenome:HGNC:11822
    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
    NEW
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    Genomic context

    See TIMP3 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (32801705..32863041)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (33266136..33327517)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (33197691..33259028)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373002 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:33056914-33058113 Neighboring gene synapsin III Neighboring gene RNA, 5S ribosomal pseudogene 497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:33148296-33149080 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:33153563-33153744 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:33159884-33160394 Neighboring gene uncharacterized LOC124905104 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:33216313-33216812 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:33271816-33272028 Neighboring gene Sharpr-MPRA regulatory region 12398 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:33283107-33283317 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:33347343-33347844 Neighboring gene Sharpr-MPRA regulatory region 592 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:33382939-33383840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:33448207-33448890 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr22:33450113-33450805 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:33506225-33507424 Neighboring gene uncharacterized LOC124905107 Neighboring gene long intergenic non-protein coding RNA 1640 Neighboring gene LARGE xylosyl- and glucuronyltransferase 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

    Description
    Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
    EBI GWAS Catalog
    Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.
    EBI GWAS Catalog
    Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
    EBI GWAS Catalog
    Seven new loci associated with age-related macular degeneration.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protease binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of membrane protein ectodomain proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of membrane protein ectodomain proteolysis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of metalloendopeptidase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to cytokine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to hormone IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in visual perception IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    metalloproteinase inhibitor 3
    Names
    MIG-5 protein
    TIMP-3
    protein MIG-5
    tissue inhibitor of metalloproteinases 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_009117.2 RefSeqGene

      Range
      5001..66337
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000362.5NP_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
      B2RBY9, P35625, Q5THV4, Q9UC74, Q9UGS2
      Related
      ENSP00000266085.5, ENST00000266085.7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      32801705..32863041
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      33266136..33327517
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)