Gene: CGNL1

Alternate names for this Gene: JACOP|PCING

Gene Summary: This gene encodes a member of the cingulin family. The encoded protein localizes to both adherens and tight cell-cell junctions and mediates junction assembly and maintenance by regulating the activity of the small GTPases RhoA and Rac1. Heterozygous chromosomal rearrangements resulting in association of the promoter for this gene with the aromatase gene are a cause of aromatase excess syndrome. Alternatively spliced transcript variants have been observed for this gene.

Gene is located in Chromosome: 15

Location in Chromosome : 15q21.3

Description of this Gene: cingulin like 1

Type of Gene: protein-coding

rs2934442 in CGNL1 gene and Bipolar Disorder PMID 21305692 2011 Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder.

rs117047297 in CGNL1 gene and Glomerular Filtration Rate PMID 31015462 2019 Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs16977473 in CGNL1 gene and Microalbuminuria PMID 30566433 2018 A variant within the FTO confers susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes.

rs4774940 in CGNL1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs16977474 in CGNL1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.