CCDC78
Coiled-Coil Domain Containing 78
Gene Information Card
| Symbol | CCDC78 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 78 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 124872 ncbi.nlm.nih.gov/gene/124872 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | Q8N5B7 |
| OMIM ID | 614850 |
| HGNC ID | 26778 |
| Aliases | FLJ32642, MGC16384 |
Description
CCDC78 encodes a coiled-coil domain-containing protein involved in centrosome and ciliary function. It is associated with nephronophthisis-related ciliopathies and may play a role in microtubule organization.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nephronophthisis 19 | Defective ciliary signaling due to CCDC78 loss-of-function mutations | ClinVar, OMIM #614850 |
| Joubert syndrome 26 | Impaired centrosome function leading to cerebellar and renal defects | OMIM #614850 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Low expression |
| K562 | 5.2 | Not detected |
| HeLa | 7.1 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325C>T (p.Arg109*) | Nonsense | Rare | Loss of function |
| c.487_488del (p.Leu163fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in CCDC78 lead to truncated protein and loss of ciliary function, causing nephronophthisis.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not described for CCDC78.
View complete mutation data：
Gene Ontology (GO)
| • centrosome | • ciliary basal body |
| • microtubule binding | • protein homodimerization activity |
Pathways
• Ciliopathy
• Centrosome cycle
Protein Summary
CCDC78 is a 548-amino acid protein containing coiled-coil domains. It localizes to the centrosome and basal body, contributing to ciliogenesis and microtubule anchoring. Defects cause renal and cerebellar ciliopathies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC78 Knockout HEK293 Cell Line | EDJ-KQ8448 | Human | 124093 | Details Get a Quote |
| CCDC78 Knockout A-549 Cell Line | EDJ-KQ34565 | Human | 124093 | Details Get a Quote |
| CCDC78 Knockout HCT 116 Cell Line | EDJ-KQ34566 | Human | 124093 | Details Get a Quote |
| CCDC78 Knockout HeLa Cell Line | EDJ-KQ34567 | Human | 124093 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
