CCDC22 (Coiled-Coil Domain Containing 22)
A regulator of NF-κB signaling and ciliogenesis, implicated in Ritscher-Schinzel syndrome and cancer.
Gene Information Card
| Symbol | CCDC22 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 22 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp11.23 |
| NCBI Gene ID | 1520 ncbi.nlm.nih.gov/gene/1520 |
| Ensembl ID | ENSG00000101981 |
| UniProt ID | O60826 |
| OMIM ID | 300859 |
| HGNC ID | 1725 |
| Aliases | CXorf11, FLJ20032, MGC117188 |
Description
CCDC22 encodes a coiled-coil domain-containing protein that is a component of the COMMD/CCDC22/CCDC93 (CCC) complex. This complex regulates endosomal trafficking and is critical for NF-κB signaling and ciliogenesis. Mutations in CCDC22 are associated with Ritscher-Schinzel syndrome (also known as 3C syndrome), and altered expression has been observed in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ritscher-Schinzel syndrome (3C syndrome) | Loss-of-function mutations disrupt CCC complex function, impairing NF-κB signaling and ciliogenesis, leading to craniofacial, cardiac, and cerebellar defects. | OMIM #300859; PMID: 25217958 |
| Intellectual disability | Missense variants in CCDC22 are linked to X-linked intellectual disability, likely through altered endosomal trafficking. | PMID: 25217958 |
| Cancer (various) | Dysregulation of CCDC22 expression may affect NF-κB activity and tumor progression; specific mechanisms under investigation. | COSMIC; PMID: 29127120 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain (cerebellum) | 8.7 | Medium |
| Lung | 6.5 | Low |
| Liver | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney; high expression |
| HeLa | 10.5 | Cervical carcinoma; moderate expression |
| A549 | 7.8 | Lung carcinoma; moderate expression |
| K562 | 5.1 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.571C>T (p.Arg191Trp) | Missense | Rare | Loss of function; associated with Ritscher-Schinzel syndrome |
| c.742G>A (p.Gly248Arg) | Missense | Rare | Likely damaging; reported in intellectual disability |
| c.1045C>T (p.Arg349*) | Nonsense | Very rare | Premature stop; loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations (e.g., p.Arg191Trp) that impair CCC complex assembly or stability, leading to reduced NF-κB signaling and ciliary defects.
Gain of Function (GOF)
Not reported for CCDC22.
Dominant Negative (DN)
Not reported; CCDC22 is X-linked and typically acts in a recessive or hemizygous manner.
View complete mutation data：
Gene Ontology (GO)
Pathways
• NF-κB signaling pathway (Reactome: R-HSA-975909)
• Cilium assembly (Reactome: R-HSA-5620920)
• Endosomal trafficking (Reactome: R-HSA-5653656)
Protein Summary
CCDC22 is a 617-amino acid protein containing coiled-coil domains. It is a core component of the CCC complex, which facilitates endosomal recycling of cargo proteins such as the NF-κB modulator COMMD1. The protein is ubiquitously expressed, with highest levels in testis and brain. It localizes to the cytoplasm and endosomes, and is essential for proper ciliogenesis and inflammatory signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC22 Knockout HEK293 Cell Line | EDJ-KQ8155 | Human | 28952 | Details Get a Quote |
| CCDC22 Knockout A-549 Cell Line | EDJ-KQ35290 | Human | 28952 | Details Get a Quote |
| CCDC22 Knockout HCT 116 Cell Line | EDJ-KQ35291 | Human | 28952 | Details Get a Quote |
| CCDC22 Knockout HeLa Cell Line | EDJ-KQ35292 | Human | 28952 | Details Get a Quote |
