CCDC88C

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]

Description

Coiled-coil domain containing 88C

Tissue specificity

Tissue enhanced (bone marrow, lymphoid tissue)

Subcell location

Nucleoplasm, Nucleoli fibrillar center

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

14 (91271323 - 91417844)

Ensembl ID

ENSG00000015133  (ver. 103.38)

Orthologs

Mouse Ccdc88c: ENSMUSG00000021182

UniProt

Q9P219

neXtProt

NX_Q9P219

Human splice variants
Mouse splice variants

Protein structure