LongevityMap Gene

Gene details

HGNC symbol: CCDC88C
Aliases: DAPLE; HKRP2; SCA40; KIAA1509
Common name: coiled-coil domain containing 88C
Description: This gene encodes a ubiquitously expressed coiled-coil domain-containing protein that interacts with the dishevelled protein and is a negative regulator of the Wnt signalling pathway. The protein encoded by this gene has a PDZ-domain binding motif in its C-terminus with which it interacts with the dishevelled protein. Dishevelled is a scaffold protein involved in the regulation of the Wnt signaling pathway. The Wnt signaling pathway plays an important role in embryonic development, tissue maintenance, and cancer progression. Mutations in this gene cause autosomal recessive, primary non-syndromic congenital hydrocephalus; a condition characterized by excessive accumulation of cerebrospinal fluid in the ventricles of the brain. [provided by RefSeq, Jan 2013]
Cytogenetic Location: 14q32.11-q32.12
UCSC Genome Browser: View 14q32.11-q32.12 on the UCSC genome browser
OMIM: 611204
Ensembl: ENSG00000015133
UniProt/Swiss-Prot: B4DZB8_HUMAN
Entrez Gene: 440193
UniGene: 525536
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

rs2277509

Reference