CCDC66 Gene - Coiled-Coil Domain Containing 66
A comprehensive resource for CCDC66 genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CCDC66 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 66 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.3 |
| NCBI Gene ID | 285973 ncbi.nlm.nih.gov/gene/285973 |
| Ensembl ID | ENSG00000163932 |
| UniProt ID | Q8N4S0 |
| OMIM ID | 617726 |
| HGNC ID | 26729 |
| Aliases | FLJ32709, MGC131831 |
Description
CCDC66 (Coiled-Coil Domain Containing 66) is a protein-coding gene located on chromosome 3p14.3. The encoded protein contains coiled-coil domains and is involved in ciliary function and microtubule organization. Mutations in CCDC66 are associated with retinal degeneration and ciliopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa | Loss of CCDC66 function disrupts ciliary transport in photoreceptor cells | ClinVar, OMIM |
| Ciliopathy-related retinal degeneration | Defective ciliary protein localization due to CCDC66 mutation | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Retina | 8.3 | Medium |
| Brain | 3.1 | Low |
| Lung | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.0 | High expression relevant to retinal function |
| HeLa | 2.5 | Low expression |
| HEK293 | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.832C>T (p.Arg278*) | Nonsense | Rare | Loss of function, associated with retinitis pigmentosa |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Likely damaging, affects protein stability |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and loss of ciliary function.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not described for CCDC66.
View complete mutation data：
Gene Ontology (GO)
| • Cilium assembly | • Microtubule cytoskeleton organization |
| • Protein localization to cilium |
Pathways
• Ciliopathy pathway
• Retinal metabolism
Protein Summary
The CCDC66 protein is a coiled-coil domain-containing protein essential for ciliary assembly and maintenance. It localizes to the basal body and axoneme of cilia, facilitating intraflagellar transport and photoreceptor cell survival. Loss of function leads to retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC66 Knockout HEK293 Cell Line | EDJ-KQ12760 | Human | 285331 | Details Get a Quote |
| CCDC66 Knockout A-549 Cell Line | EDJ-KQ41880 | Human | 285331 | Details Get a Quote |
| CCDC66 Knockout HCT 116 Cell Line | EDJ-KQ41881 | Human | 285331 | Details Get a Quote |
| CCDC66 Knockout HeLa Cell Line | EDJ-KQ41882 | Human | 285331 | Details Get a Quote |
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