TIMP3 gene

GPTKB entity

Statements (49)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:SFD
K222
TIMP metallopeptidase inhibitor 3
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:Sorsby_fundus_dystrophy
age-related macular degeneration
gptkbp:biologicalProcess extracellular matrix organization
cell-matrix adhesion
metalloproteinase inhibitor activity
negative regulation of angiogenesis
negative regulation of endopeptidase activity
gptkbp:cellularComponent extracellular matrix
extracellular space
gptkbp:clinicalTrialPhase available for Sorsby fundus dystrophy
gptkbp:discoveredBy 1992
gptkbp:encodes TIMP3 protein
gptkbp:Entrez_Gene_ID 7078
gptkbp:expressedIn various tissues
gptkbp:fullName Tissue Inhibitor of Metalloproteinases 3
gptkbp:function inhibits matrix metalloproteinases
regulates extracellular matrix composition
gptkbp:hasTranscriptVariant multiple
gptkbp:HGNC_ID gptkb:HGNC:11821
https://www.w3.org/2000/01/rdf-schema#label TIMP3 gene
gptkbp:length 211 amino acids
5 exons
gptkbp:locatedOnChromosome 22
22q12.3
gptkbp:mutationAssociatedWith retinal degeneration
gptkbp:OMIM 188826
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologInMouse Timp3
gptkbp:pathway gptkb:ECM-receptor_interaction
gptkb:Focal_adhesion
gptkb:PI3K-Akt_signaling_pathway
gptkbp:postTranslationalModification disulfide bonds
glycosylated
gptkbp:product contains C-terminal domain
contains NTR domain
gptkbp:proteinFamily gptkb:TIMP_family
gptkbp:proteinSecretion secreted protein
gptkbp:regulates apoptosis
angiogenesis
inflammation
transcriptionally regulated
gptkbp:UniProtID gptkb:P35625
gptkbp:bfsParent gptkb:TIMP3
gptkbp:bfsLayer 7