Gene: SKIL

Alternate names for this Gene: SNO|SnoA|SnoI|SnoN

Gene Summary: The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene.

Gene is located in Chromosome: 3

Location in Chromosome : 3q26.2

Description of this Gene: SKI like proto-oncogene

Type of Gene: protein-coding

rs9682041 in SKIL gene and Creatinine measurement, serum (procedure) PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

rs9682041 in SKIL gene and Glomerular Filtration Rate PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.