LongevityMap Gene
Gene details
- HGNC symbol
- CGNL1
- Aliases
- JACOP; PCING
- Common name
- cingulin like 1
- Description
- 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. [provided by RefSeq, Nov 2011]
- Cytogenetic Location
- 15q21.3
- UCSC Genome Browser
- View 15q21.3 on the UCSC genome browser
- OMIM
- 607856
- Ensembl
- ENSG00000128849
- UniProt/Swiss-Prot
- CGNL1_HUMAN
- Entrez Gene
- 84952
- UniGene
- 148989
- 1000 Genomes
- 1000 Genomes
Homologs in model organisms
Studies (1)
Significant/Non-significant: 1/0
- Longevity Association
- Significant
- Population
- American (Caucasian)
- Study Design
- Genome-wide association study in 801 centenarians and 914 healthy controls
- Conclusions
- 281 SNPs were found to discriminate between cases and controls
- Indentifier
- rs1280396
- Reference