Gene

TIMP3

Species
Homo sapiens
Symbol
TIMP3
Name
TIMP metallopeptidase inhibitor 3
Synonyms
  • HSMRK222
  • K222
Biotype
protein coding gene
Automated Description
Predicted to enable metalloendopeptidase inhibitor activity. Involved in negative regulation of membrane protein ectodomain proteolysis. Located in collagen-containing extracellular matrix and nucleus. Implicated in Sorsby's fundus dystrophy; breast carcinoma; and urinary bladder cancer. Biomarker of several diseases, including breast cancer (multiple); lung non-small cell carcinoma (multiple); preretinal fibrosis; reproductive organ cancer (multiple); and thoracic aortic aneurysm.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR11844
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
32.81M32.82M32.83M32.84M32.85M32.86M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions