CCDC88C
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. [provided by RefSeq, Jan 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| coiled-coil domain containing 88C | MIM:611204 | Ensembl:ENSG00000015133 | HGNC:HGNC:19967 | PA162381879 | 14q32.11-q32.12 |
GO terms in CCDC88C
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0008017 | microtubule binding |
| MF | ISS | GO:0030165 | PDZ domain binding |
| MF | ISS | GO:0043621 | protein self-association |
| MF | IBA | GO:0051959 | dynein light intermediate chain binding |
| BP | ISS | GO:0001932 | regulation of protein phosphorylation |
| BP | IEA | GO:0016055 | Wnt signaling pathway |
| BP | IBA | GO:0030705 | cytoskeleton-dependent intracellular transport |
| BP | IMP | GO:0031098 | stress-activated protein kinase signaling cascade |
| BP | IBA | GO:0031122 | cytoplasmic microtubule organization |
| BP | ISS | GO:0031648 | protein destabilization |
| BP | ISS | GO:0051260 | protein homooligomerization |
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005813 | centrosome |
Gene expression in normal tissue: CCDC88C
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CCDC88C
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2858 | Ectoderm Differentiation |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-5368598 | Negative regulation of TCF-dependent signaling by DVL-interacting proteins |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CCDC88C
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