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TIMP3 (TIMP metallopeptidase inhibitor 3)

Identity

Alias (NCBI)HSMRK222
K222
K222TA2
SFD
HGNC (Hugo) TIMP3
HGNC Previous nameSFD
HGNC Previous nametissue inhibitor of metalloproteinase 3 (Sorsby fundus dystrophy, pseudoinflammatory)
LocusID (NCBI) 7078
Atlas_Id 42573
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 32801705 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

 



External links

 

Nomenclature
HGNC (Hugo)TIMP3   11822
Cards
Entrez_Gene (NCBI)TIMP3    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]  chr22:32801705-32863041 [Contig_View]  TIMP3 [Vega]
ICGC DataPortalENSG00000100234
TCGA cBioPortalTIMP3
AceView (NCBI)TIMP3
Genatlas (Paris)TIMP3
SOURCE (Princeton)TIMP3
Genetics Home Reference (NIH)TIMP3
Genomic and cartography
GoldenPath hg38 (UCSC)TIMP3  -     chr22:32801705-32863041 +  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TIMP3  -     22q12.3   [Description]    (hg19-Feb_2009)
GoldenPathTIMP3 - 22q12.3 [CytoView hg19]  TIMP3 - 22q12.3 [CytoView hg38]
ImmunoBaseENSG00000100234
Genome Data Viewer NCBITIMP3 [Mapview hg19]  
OMIM136900   188826   
Gene and transcription
Genbank (Entrez)AF035289 AK098517 AK298126 AK314871 BC013086
RefSeq transcript (Entrez)NM_000362
Consensus coding sequences : CCDS (NCBI)TIMP3
Gene ExpressionTIMP3 [ NCBI-GEO ]   TIMP3 [ EBI - ARRAY_EXPRESS ]   TIMP3 [ SEEK ]   TIMP3 [ MEM ]
Gene Expression Viewer (FireBrowse)TIMP3 [ Firebrowse - Broad ]
GenevisibleExpression of TIMP3 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
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
PDB (RSDB)3CKI   
PDB Europe3CKI   
PDB (PDBSum)3CKI   
PDB (IMB)3CKI   
Structural Biology KnowledgeBase3CKI   
SCOP (Structural Classification of Proteins)3CKI   
CATH (Classification of proteins structures)3CKI   
SuperfamilyP35625
AlphaFold pdb e-kbP35625   
Human Protein Atlas [tissue]ENSG00000100234-TIMP3 [tissue]
HPRD01785
Protein Interaction databases
DIP (DOE-UCLA)P35625
IntAct (EBI)P35625
BioGRIDTIMP3
STRING (EMBL)TIMP3
ZODIACTIMP3
Ontologies - Pathways
QuickGOP35625
Ontology : AmiGOprotease binding  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  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 : BIOCARTABIOCARTA_RECKPATHWAY    BIOCARTA_P53PATHWAY   
NDEx NetworkTIMP3
Atlas of Cancer Signalling NetworkTIMP3
Wikipedia pathwaysTIMP3
Orthology - Evolution
OrthoDB7078
GeneTree (enSembl)ENSG00000100234
Phylogenetic Trees/Animal Genes : TreeFamTIMP3
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]  
Fusion : QuiverTIMP3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTIMP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TIMP3
dbVarTIMP3
ClinVarTIMP3
MonarchTIMP3
1000_GenomesTIMP3 
Exome Variant ServerTIMP3
GNOMAD BrowserENSG00000100234
Varsome BrowserTIMP3
ACMGTIMP3 variants
VarityP35625
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]  
Somatic Mutations in Cancer : COSMIC3DTIMP3
Mutations and Diseases : HGMDTIMP3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTIMP3
DgiDB (Drug Gene Interaction Database)TIMP3
DoCM (Curated mutations)TIMP3
CIViC (Clinical Interpretations of Variants in Cancer)TIMP3
Cancer3DTIMP3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM136900    188826   
Orphanet10783   
DisGeNETTIMP3
MedgenTIMP3
Genetic Testing Registry TIMP3
NextProtP35625 [Medical]
GENETestsTIMP3
Target ValidationTIMP3
Huge Navigator TIMP3 [HugePedia]
ClinGenTIMP3
Clinical trials, drugs, therapy
MyCancerGenomeTIMP3
Protein Interactions : CTDTIMP3
Pharm GKB GenePA36528
Pharm GKB PathwaysPA2032   
PharosP35625
Clinical trialTIMP3
Miscellaneous
canSAR (ICR)TIMP3
HarmonizomeTIMP3
ARCHS4TIMP3
DataMed IndexTIMP3
Probes
Litterature
PubMed335 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTIMP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 13:02:54 CET 2022

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