Gene: CEP295NL

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: TIMP2

Alternate names for this Gene: CSC-21K|DDC8

Gene Summary: This gene is a member of the TIMP gene family. The proteins encoded by this gene family are natural inhibitors of the matrix metalloproteinases, a group of peptidases involved in degradation of the extracellular matrix. In addition to an inhibitory role against metalloproteinases, the encoded protein has a unique role among TIMP family members in its ability to directly suppress the proliferation of endothelial cells. As a result, the encoded protein may be critical to the maintenance of tissue homeostasis by suppressing the proliferation of quiescent tissues in response to angiogenic factors, and by inhibiting protease activity in tissues undergoing remodelling of the extracellular matrix.

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.3

Description of this Gene: TIMP metallopeptidase inhibitor 2

Type of Gene: protein-coding

rs4789937 in CEP295NL;TIMP2 gene and Adiponectin Measurement PMID 20887962 2010 Adiponectin concentrations: a genome-wide association study.

rs2376999 in CEP295NL;TIMP2 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs4789939 in CEP295NL;TIMP2 gene and Dupuytren Contracture PMID 21732829 2011 Wnt signaling and Dupuytren's disease.

rs4789939 in CEP295NL;TIMP2 gene and Dupuytren's Disease PMID 21732829 2011 Wnt signaling and Dupuytren's disease.

rs3744790 in CEP295NL;TIMP2 gene and Eosinophilic esophagitis PMID 25017104 2014 Genome-wide association analysis of eosinophilic esophagitis provides insight into the tissue specificity of this allergic disease.

rs3744787 in CEP295NL;TIMP2 gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.