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

Homologs in model organisms

Danio rerio
LOC553231
Drosophila melanogaster
Girdin
Mus musculus
Ccdc88c
Rattus norvegicus
Ccdc88c

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
rs2277509
Reference