Gene: CCDC88C

Alternate names for this Gene: DAPLE|HKRP2|HYC1|KIAA1509|SCA40

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.11-q32.12

Description of this Gene: coiled-coil domain containing 88C

Type of Gene: protein-coding

rs941764 in CCDC88C gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs941764 in CCDC88C gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs12589229 in CCDC88C gene and Schizophrenia PMID 22037555 2011 Common variants on 8p12 and 1q24.2 confer risk of schizophrenia.

rs587782989 in CCDC88C gene and Spinocerebellar ataxia type 40 PMID 25062847 2014 A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.