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

Gene ID: 7078, updated on 26-Nov-2014
Official Symbol
TIMP3provided by HGNC
Official Full Name
TIMP metallopeptidase inhibitor 3provided by HGNC
Primary source
HGNC:HGNC:11822
Locus tag
RP1-309I22.1
See related
Ensembl:ENSG00000100234; HPRD:01785; 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]
See TIMP3 in Epigenomics, MapViewer
Location:
22q12.3
Exon count:
5
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 F-box protein 7 Neighboring gene synapsin III Neighboring gene RNA, 5S ribosomal pseudogene 497 Neighboring gene LYR motif-containing protein 5-like Neighboring gene like-glycosyltransferase Neighboring gene microRNA 4764

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Sorsby fundus dystrophy
MedGen: C1850938 OMIM: 136900 GeneReviews: Not available
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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 biosystem
    Endochondral Ossification
  • 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,...
  • 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...
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 TAS
Traceable Author Statement
more info
PubMed 
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 endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of endopeptidase activity TAS
Traceable Author Statement
more info
PubMed 
negative regulation of membrane protein ectodomain proteolysis IMP
Inferred from Mutant Phenotype
more info
PubMed 
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 IDA
Inferred from Direct Assay
more info
PubMed 
extracellular vesicular exosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
metalloproteinase inhibitor 3
Names
metalloproteinase inhibitor 3
TIMP-3
MIG-5 protein
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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_000353.1

    Status: REVIEWED

    Source sequence(s)
    AF035289, AL023282, BC014277, Z98256
    Consensus CDS
    CCDS13911.1
    UniProtKB/Swiss-Prot
    P35625
    Related
    ENSP00000266085, OTTHUMP00000028880, ENST00000266085, 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 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000022.11 

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

Alternate CHM1_1.1

Genomic

  1. NC_018933.2 

    Range
    33156307..33218500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000154.1 

    Range
    16154700..16216984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)