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Aliases for TIMP3 Gene

Aliases for TIMP3 Gene

  • TIMP Metallopeptidase Inhibitor 3 2 3 5
  • Tissue Inhibitor Of Metalloproteinases 3 3 4
  • Protein MIG-5 3 4
  • TIMP-3 3 4
  • Tissue Inhibitor Of Metalloproteinase 3 (Sorsby Fundus Dystrophy, Pseudoinflammatory) 2
  • Metalloproteinase Inhibitor 3 3
  • MIG-5 Protein 3
  • HSMRK222 3
  • K222TA2 3
  • K222 3
  • SFD 3

External Ids for TIMP3 Gene

Previous HGNC Symbols for TIMP3 Gene

  • SFD

Previous GeneCards Identifiers for TIMP3 Gene

  • GC22P029893
  • GC22P031521
  • GC22P033196
  • GC22P016154

Summaries for TIMP3 Gene

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 Sorsby Fundus Dystrophy and Pseudoinflammatory Fundus Dystrophy. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and p70S6K Signaling. GO annotations related to this gene include protease binding and metalloendopeptidase inhibitor activity. An important paralog of this gene is TIMP4.

UniProtKB/Swiss-Prot for TIMP3 Gene

  • 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

Additional gene information for TIMP3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TIMP3 Gene

Genomics for TIMP3 Gene

Regulatory Elements for TIMP3 Gene

Enhancers for TIMP3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H032528 1.9 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -269.0 -269027 7 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ETS1 GLIS2 ELK1 ZNF143 TIMP3 ENSG00000229673 LL22NC03-104C7.1 FBXO7 GC22M032500
GH22H032694 1.5 FANTOM5 Ensembl ENCODE 13 -104.2 -104208 3 FOXA2 RAD21 THRB RARA ATF7 RCOR1 FOS CEBPB NFYC PPARG TIMP3 ENSG00000229673 LL22NC03-104C7.1 SYN3 PIR38867
GH22H032779 1.5 FANTOM5 ENCODE dbSUPER 12.1 -20.5 -20511 2 FOXA2 ATF1 MLX ARID4B YY1 SP5 REST MIER2 PPARG KAT8 TIMP3 ENSG00000229673 PIR38867
GH22H032621 1.5 Ensembl ENCODE dbSUPER 11.1 -177.7 -177721 4 PKNOX1 FOXA2 ARID4B FEZF1 GLIS2 ATF7 SP5 TSHZ1 ZNF623 KAT8 TIMP3 LL22NC03-104C7.1 ENSG00000229673 BPIFC GC22P032635 LOC105373003
GH22H032643 1.5 Ensembl ENCODE dbSUPER 11.1 -156.0 -156022 1 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 SP5 MXD4 TIMP3 FBXO7 LOC105373002 PIR38867
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TIMP3 on UCSC Golden Path with GeneCards custom track

Promoters for TIMP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145510 1684 2201 TBP ZSCAN4 ARID4B ZNF76 KLF17 DMAP1 YY1 GLIS2 SCRT2 EGR2

Genomic Location for TIMP3 Gene

Chromosome:
22
Start:
32,800,816 bp from pter
End:
32,863,043 bp from pter
Size:
62,228 bases
Orientation:
Plus strand

Genomic View for TIMP3 Gene

Genes around TIMP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TIMP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TIMP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TIMP3 Gene

Proteins for TIMP3 Gene

  • Protein details for TIMP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35625-TIMP3_HUMAN
    Recommended name:
    Metalloproteinase inhibitor 3
    Protein Accession:
    P35625
    Secondary Accessions:
    • B2RBY9
    • Q5THV4
    • Q9UC74
    • Q9UGS2

    Protein attributes for TIMP3 Gene

    Size:
    211 amino acids
    Molecular mass:
    24145 Da
    Quaternary structure:
    • Interacts with EFEMP1.

    Three dimensional structures from OCA and Proteopedia for TIMP3 Gene

neXtProt entry for TIMP3 Gene

Post-translational modifications for TIMP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TIMP3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TIMP3 (TIMP3)

Assay Products

  • Abcam assays for TIMP3

No data available for DME Specific Peptides for TIMP3 Gene

Domains & Families for TIMP3 Gene

Gene Families for TIMP3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for TIMP3 Gene

Graphical View of Domain Structure for InterPro Entry

P35625

UniProtKB/Swiss-Prot:

TIMP3_HUMAN :
  • Belongs to the protease inhibitor I35 (TIMP) family.
Family:
  • Belongs to the protease inhibitor I35 (TIMP) family.
genes like me logo Genes that share domains with TIMP3: view

Function for TIMP3 Gene

Molecular function for TIMP3 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for TIMP3 Gene

Gene Ontology (GO) - Molecular Function for TIMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IBA --
GO:0004857 enzyme inhibitor activity IEA --
GO:0005515 protein binding IPI 18344519
GO:0008191 metalloendopeptidase inhibitor activity TAS 18638486
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with TIMP3: view
genes like me logo Genes that share phenotypes with TIMP3: view

Human Phenotype Ontology for TIMP3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TIMP3 Gene

MGI Knock Outs for TIMP3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TIMP3
  • Applied Biological Materials Clones for TIMP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TIMP3 Gene

Localization for TIMP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TIMP3 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TIMP3 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TIMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IBA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IEA,IBA --
GO:0005634 nucleus IDA 21630459
genes like me logo Genes that share ontologies with TIMP3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TIMP3 Gene

Pathways & Interactions for TIMP3 Gene

genes like me logo Genes that share pathways with TIMP3: view

Gene Ontology (GO) - Biological Process for TIMP3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0007601 visual perception IEA --
GO:0010033 response to organic substance IBA --
GO:0010466 negative regulation of peptidase activity IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with TIMP3: view

No data available for SIGNOR curated interactions for TIMP3 Gene

Drugs & Compounds for TIMP3 Gene

(21) Drugs for TIMP3 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pimagedine Investigational Pharma Target 4

(22) Additional Compounds for TIMP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TIMP3: view

Transcripts for TIMP3 Gene

mRNA/cDNA for TIMP3 Gene

(1) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(1504) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TIMP3 Gene

TIMP metallopeptidase inhibitor 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for TIMP3
  • Applied Biological Materials Clones for TIMP3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for TIMP3 Gene

No ASD Table

Relevant External Links for TIMP3 Gene

GeneLoc Exon Structure for
TIMP3
ECgene alternative splicing isoforms for
TIMP3

Expression for TIMP3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TIMP3 Gene

Protein differential expression in normal tissues from HIPED for TIMP3 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (19.0) and Breast (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TIMP3 Gene



Protein tissue co-expression partners for TIMP3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TIMP3 Gene:

TIMP3

SOURCE GeneReport for Unigene cluster for TIMP3 Gene:

Hs.644633

Evidence on tissue expression from TISSUES for TIMP3 Gene

  • Kidney(4.6)
  • Pancreas(4.6)
  • Nervous system(4.5)
  • Eye(4.3)
  • Lung(4.2)
  • Skin(4.1)
  • Bone(3.5)
  • Heart(3.4)
  • Muscle(3.2)
  • Intestine(2.7)
  • Liver(2.6)
  • Lymph node(2.5)
  • Spleen(2.5)
  • Thyroid gland(2.5)
  • Adrenal gland(2.2)
  • Blood(2.1)
  • Gall bladder(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TIMP3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • blood
  • blood vessel
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TIMP3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for TIMP3 Gene

Orthologs for TIMP3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TIMP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TIMP3 33 34
  • 99.37 (n)
oppossum
(Monodelphis domestica)
Mammalia TIMP3 34
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TIMP3 33 34
  • 93.84 (n)
dog
(Canis familiaris)
Mammalia TIMP3 33 34
  • 93.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TIMP3 34
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Timp3 33
  • 89.89 (n)
mouse
(Mus musculus)
Mammalia Timp3 33 16 34
  • 89.73 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 82 (a)
OneToMany
TIMP3 33 34
  • 77.73 (n)
lizard
(Anolis carolinensis)
Reptilia TIMP3 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia timp3 33
  • 79.23 (n)
Species where no ortholog for TIMP3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TIMP3 Gene

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

Paralogs for TIMP3 Gene

Paralogs for TIMP3 Gene

(3) SIMAP similar genes for TIMP3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with TIMP3: view

Variants for TIMP3 Gene

Sequence variations from dbSNP and Humsavar for TIMP3 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs137853298 Pathogenic, Sorsby fundus dystrophy (SFD) [MIM:136900] 32,859,351(+) ATAAA(A/T)GCATC intron-variant, reference, missense
rs137853299 Pathogenic, Sorsby fundus dystrophy (SFD) [MIM:136900] 32,859,313(+) CGGCT(A/G)CTGCA intron-variant, reference, missense
rs137853300 Pathogenic, Sorsby fundus dystrophy (SFD) [MIM:136900] 32,859,277(+) CCAGT(C/G)CAAAC intron-variant, reference, missense
rs137853301 Pathogenic, Sorsby fundus dystrophy (SFD) [MIM:136900] 32,859,306(+) AGAAG(G/T)GCGGC intron-variant, reference, missense
VAR_010901 Sorsby fundus dystrophy (SFD) [MIM:136900]

Structural Variations from Database of Genomic Variants (DGV) for TIMP3 Gene

Variant ID Type Subtype PubMed ID
esv1085289 CNV insertion 17803354
nsv1059368 CNV loss 25217958
nsv191249 CNV insertion 16902084
nsv3599 CNV deletion 18451855
nsv955482 CNV deletion 24416366

Variation tolerance for TIMP3 Gene

Residual Variation Intolerance Score: 36.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.45; 9.81% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TIMP3 Gene

Human Gene Mutation Database (HGMD)
TIMP3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TIMP3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TIMP3 Gene

Disorders for TIMP3 Gene

MalaCards: The human disease database

(22) MalaCards diseases for TIMP3 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
sorsby fundus dystrophy
  • sorsby's fundus dystrophy
pseudoinflammatory fundus dystrophy
  • sorsby fundus dystrophy
juvenile pilocytic astrocytoma
fundus dystrophy
  • retinal dystrophy
partial central choroid dystrophy
  • choroidal dystrophy, central areolar
- elite association - COSMIC cancer census association via MalaCards
Search TIMP3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TIMP3_HUMAN
  • 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. {ECO:0000269 PubMed:7550309, ECO:0000269 PubMed:7894485, ECO:0000269 PubMed:8634721, ECO:0000269 PubMed:8728699, ECO:0000269 PubMed:8981947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TIMP3

Genetic Association Database (GAD)
TIMP3
Human Genome Epidemiology (HuGE) Navigator
TIMP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TIMP3
genes like me logo Genes that share disorders with TIMP3: view

No data available for Genatlas for TIMP3 Gene

Publications for TIMP3 Gene

  1. Cloning of the cDNA encoding human tissue inhibitor of metalloproteinases-3 (TIMP-3) and mapping of the TIMP3 gene to chromosome 22. (PMID: 8188246) Apte SS … Olsen BR (Genomics 1994) 2 3 4 22 60
  2. Structural determinants of the ADAM inhibition by TIMP-3: crystal structure of the TACE-N-TIMP-3 complex. (PMID: 18638486) Wisniewska M … Bode W (Journal of molecular biology 2008) 3 4 22 60
  3. Promoter polymorphisms in matrix metalloproteinases and their inhibitors: few associations with breast cancer susceptibility and progression. (PMID: 17033924) Lei H … Försti A (Breast cancer research and treatment 2007) 3 22 45 60
  4. 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. (PMID: 15123717) Klenotic PA … Anand-Apte B (The Journal of biological chemistry 2004) 3 4 22 60
  5. A novel function for tissue inhibitor of metalloproteinases-3 (TIMP3): inhibition of angiogenesis by blockage of VEGF binding to VEGF receptor-2. (PMID: 12652295) Qi JH … Anand-Apte B (Nature medicine 2003) 2 3 22 60

Products for TIMP3 Gene

  • Addgene plasmids for TIMP3

Sources for TIMP3 Gene

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