CCDC88C
Coiled-Coil Domain Containing 88C; a scaffold protein involved in Wnt signaling and neuronal development
Gene Information Card
| Symbol | CCDC88C |
|---|---|
| Full Name | Coiled-Coil Domain Containing 88C |
| Gene Type | Protein coding |
| Chromosomal Location | 14q32.11 |
| NCBI Gene ID | 440193 ncbi.nlm.nih.gov/gene/440193 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9P219 |
| OMIM ID | 611204 |
| HGNC ID | 19967 |
| Aliases | DAPLE, HYDIN2, KIAA1509 |
Description
CCDC88C encodes a coiled-coil domain-containing protein that acts as a scaffold in the Wnt/planar cell polarity (PCP) signaling pathway. It interacts with Dishevelled (DVL) proteins to regulate cell polarity, neuronal migration, and ciliogenesis. Mutations in this gene are associated with congenital hydrocephalus and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital hydrocephalus | Loss-of-function mutations disrupt Wnt/PCP signaling, impairing neuronal migration and cerebrospinal fluid dynamics | ClinVar, OMIM |
| Neural tube defects | Disrupted planar cell polarity leads to defective neural tube closure | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.2 | Low |
| Kidney | 6.1 | Low |
| Lung | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.0 | Neuroblastoma cell line |
| HEK293 | 10.5 | Embryonic kidney cells |
| HeLa | 8.0 | Cervical carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2029C>T (p.Arg677*) | Nonsense | Rare | Loss of function; associated with congenital hydrocephalus |
| c.3340G>A (p.Gly1114Arg) | Missense | Rare | Likely damaging; disrupts DVL2 binding |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations truncate the protein, impairing Wnt/PCP signaling and leading to hydrocephalus.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations may interfere with DVL2 interaction, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • Wnt signaling pathway | • planar cell polarity pathway |
| • protein binding | • cytoplasm |
| • cell projection |
Pathways
• Wnt/planar cell polarity signaling
• Dishevelled-mediated signaling
Protein Summary
CCDC88C is a 1,910-amino-acid protein containing coiled-coil domains and a DVL-binding region. It localizes to the cytoplasm and cell projections, where it scaffolds components of the Wnt/PCP pathway to regulate cytoskeletal dynamics and cell polarity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC88C Knockout HEK293 Cell Line | EDJ-KQ12769 | Human | 440193 | Details Get a Quote |
| CCDC88C Knockout A-549 Cell Line | EDJ-KQ41897 | Human | 440193 | Details Get a Quote |
| CCDC88C Knockout HCT 116 Cell Line | EDJ-KQ41898 | Human | 440193 | Details Get a Quote |
| CCDC88C Knockout HeLa Cell Line | EDJ-KQ41899 | Human | 440193 | Details Get a Quote |
