LongevityMap Gene

Gene details

HGNC symbol: CTNND2
Aliases: GT24; NPRAP
Common name: catenin delta 2
Description: This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013]
Cytogenetic Location: 5p15.2
UCSC Genome Browser: View 5p15.2 on the UCSC genome browser
OMIM: 604275
Ensembl: ENSG00000169862
UniProt/Swiss-Prot: B4DJU1_HUMAN
Entrez Gene: 1501
UniGene: 314543
1000 Genomes: 1000 Genomes

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

rs1860242

Reference