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TIMP3 (TIMP metallopeptidase inhibitor 3)

Identity

Alias_namesSFD
tissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy
Other aliasHSMRK222
K222
K222TA2
HGNC (Hugo) TIMP3
LocusID (NCBI) 7078
Atlas_Id 42573
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 32800816 and ends at 32863041 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TIMP3 (22q12.3) / SPCS3 (4q34.2)TIMP3 (22q12.3) / ZNFX1 (20q13.13)TIMP3 22q12.3 / SPCS3 4q34.2
TIMP3 22q12.3 / ZNFX1 20q13.13

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(2;22)(p23;q12) TIMP3/ALK
t(4;22)(q34;q12) TIMP3/SPCS3
t(20;22)(q13;q12) TIMP3/ZNFX1

External links

Nomenclature
HGNC (Hugo)TIMP3   11822
Cards
Entrez_Gene (NCBI)TIMP3  7078  TIMP metallopeptidase inhibitor 3
AliasesHSMRK222; K222; K222TA2; SFD
GeneCards (Weizmann)TIMP3
Ensembl hg19 (Hinxton)ENSG00000100234 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100234 [Gene_View]  ENSG00000100234 [Sequence]  chr22:32800816-32863041 [Contig_View]  TIMP3 [Vega]
ICGC DataPortalENSG00000100234
TCGA cBioPortalTIMP3
AceView (NCBI)TIMP3
Genatlas (Paris)TIMP3
WikiGenes7078
SOURCE (Princeton)TIMP3
Genetics Home Reference (NIH)TIMP3
Genomic and cartography
GoldenPath hg38 (UCSC)TIMP3  -     chr22:32800816-32863041 +  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TIMP3  -     22q12.3   [Description]    (hg19-Feb_2009)
EnsemblTIMP3 - 22q12.3 [CytoView hg19]  TIMP3 - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBITIMP3 [Mapview hg19]  TIMP3 [Mapview hg38]
OMIM136900   188826   
Gene and transcription
Genbank (Entrez)AF035289 AK098517 AK298126 AK314871 BC013086
RefSeq transcript (Entrez)NM_000362
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TIMP3
Cluster EST : UnigeneHs.644633 [ NCBI ]
CGAP (NCI)Hs.644633
Alternative Splicing GalleryENSG00000100234
Gene ExpressionTIMP3 [ NCBI-GEO ]   TIMP3 [ EBI - ARRAY_EXPRESS ]   TIMP3 [ SEEK ]   TIMP3 [ MEM ]
Gene Expression Viewer (FireBrowse)TIMP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7078
GTEX Portal (Tissue expression)TIMP3
Human Protein AtlasENSG00000100234-TIMP3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35625   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35625  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35625
Splice isoforms : SwissVarP35625
PhosPhoSitePlusP35625
Domaine pattern : Prosite (Expaxy)NTR (PS50189)    TIMP (PS00288)   
Domains : Interpro (EBI)Netrin_domain    TIMP    TIMP-like_OB-fold    TIMP3    TIMP_C    TIMP_CS   
Domain families : Pfam (Sanger)TIMP (PF00965)   
Domain families : Pfam (NCBI)pfam00965   
Domain families : Smart (EMBL)NTR (SM00206)  
Conserved Domain (NCBI)TIMP3
DMDM Disease mutations7078
Blocks (Seattle)TIMP3
PDB (SRS)3CKI   
PDB (PDBSum)3CKI   
PDB (IMB)3CKI   
PDB (RSDB)3CKI   
Structural Biology KnowledgeBase3CKI   
SCOP (Structural Classification of Proteins)3CKI   
CATH (Classification of proteins structures)3CKI   
SuperfamilyP35625
Human Protein Atlas [tissue]ENSG00000100234-TIMP3 [tissue]
Peptide AtlasP35625
HPRD01785
IPIIPI00218247   IPI01010140   IPI00000901   IPI00640293   
Protein Interaction databases
DIP (DOE-UCLA)P35625
IntAct (EBI)P35625
FunCoupENSG00000100234
BioGRIDTIMP3
STRING (EMBL)TIMP3
ZODIACTIMP3
Ontologies - Pathways
QuickGOP35625
Ontology : AmiGOprotease binding  platelet degranulation  protein binding  extracellular region  basement membrane  extracellular space  nucleus  visual perception  metalloendopeptidase inhibitor activity  metalloendopeptidase inhibitor activity  response to hormone  response to organic substance  negative regulation of endopeptidase activity  extracellular matrix  platelet dense granule lumen  response to cytokine  metal ion binding  negative regulation of membrane protein ectodomain proteolysis  negative regulation of membrane protein ectodomain proteolysis  collagen-containing extracellular matrix  collagen-containing extracellular matrix  negative regulation of ERK1 and ERK2 cascade  cellular response to organic substance  positive regulation of TRAIL-activated apoptotic signaling pathway  negative regulation of metalloendopeptidase activity  
Ontology : EGO-EBIprotease binding  platelet degranulation  protein binding  extracellular region  basement membrane  extracellular space  nucleus  visual perception  metalloendopeptidase inhibitor activity  metalloendopeptidase inhibitor activity  response to hormone  response to organic substance  negative regulation of endopeptidase activity  extracellular matrix  platelet dense granule lumen  response to cytokine  metal ion binding  negative regulation of membrane protein ectodomain proteolysis  negative regulation of membrane protein ectodomain proteolysis  collagen-containing extracellular matrix  collagen-containing extracellular matrix  negative regulation of ERK1 and ERK2 cascade  cellular response to organic substance  positive regulation of TRAIL-activated apoptotic signaling pathway  negative regulation of metalloendopeptidase activity  
Pathways : KEGGProteoglycans in cancer    MicroRNAs in cancer   
NDEx NetworkTIMP3
Atlas of Cancer Signalling NetworkTIMP3
Wikipedia pathwaysTIMP3
Orthology - Evolution
OrthoDB7078
GeneTree (enSembl)ENSG00000100234
Phylogenetic Trees/Animal Genes : TreeFamTIMP3
HOVERGENP35625
HOGENOMP35625
Homologs : HomoloGeneTIMP3
Homology/Alignments : Family Browser (UCSC)TIMP3
Gene fusions - Rearrangements
Fusion : MitelmanTIMP3/SPCS3 [22q12.3/4q34.2]  
Fusion : MitelmanTIMP3/ZNFX1 [22q12.3/20q13.13]  [t(20;22)(q13;q12)]  
Fusion PortalTIMP3 22q12.3 SPCS3 4q34.2 PRAD
Fusion PortalTIMP3 22q12.3 ZNFX1 20q13.13 SKCM
Fusion : QuiverTIMP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTIMP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TIMP3
dbVarTIMP3
ClinVarTIMP3
1000_GenomesTIMP3 
Exome Variant ServerTIMP3
ExAC (Exome Aggregation Consortium)ENSG00000100234
GNOMAD BrowserENSG00000100234
Varsome BrowserTIMP3
Genetic variants : HAPMAP7078
Genomic Variants (DGV)TIMP3 [DGVbeta]
DECIPHERTIMP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTIMP3 
Mutations
ICGC Data PortalTIMP3 
TCGA Data PortalTIMP3 
Broad Tumor PortalTIMP3
OASIS PortalTIMP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTIMP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTIMP3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch TIMP3
DgiDB (Drug Gene Interaction Database)TIMP3
DoCM (Curated mutations)TIMP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TIMP3 (select a term)
intoGenTIMP3
Cancer3DTIMP3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM136900    188826   
Orphanet10783   
DisGeNETTIMP3
MedgenTIMP3
Genetic Testing Registry TIMP3
NextProtP35625 [Medical]
TSGene7078
GENETestsTIMP3
Target ValidationTIMP3
Huge Navigator TIMP3 [HugePedia]
snp3D : Map Gene to Disease7078
BioCentury BCIQTIMP3
ClinGenTIMP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7078
Chemical/Pharm GKB GenePA36528
Clinical trialTIMP3
Miscellaneous
canSAR (ICR)TIMP3 (select the gene name)
Probes
Litterature
PubMed271 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTIMP3
EVEXTIMP3
GoPubMedTIMP3
iHOPTIMP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:45:05 CET 2018
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