CWC27 Spliceosome Associated Cyclophilin
A cyclophilin family member involved in pre-mRNA splicing and retinal development
Gene Information Card
| Symbol | CWC27 |
|---|---|
| Full Name | CWC27 spliceosome associated cyclophilin |
| Gene Type | protein-coding |
| Chromosomal Location | 5q12.3 |
| NCBI Gene ID | 90624 ncbi.nlm.nih.gov/gene/90624 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q6UX04 |
| OMIM ID | 617170 |
| HGNC ID | 28364 |
| Aliases | NY-CO-10, SDCCAG10, HSPC148, PPIL2 |
Description
CWC27 encodes a cyclophilin-type peptidyl-prolyl cis-trans isomerase that is a component of the spliceosome complex. It is involved in pre-mRNA splicing, particularly in the removal of introns. Mutations in CWC27 have been linked to autosomal recessive retinitis pigmentosa and other ciliopathy-like phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Retinitis pigmentosa (autosomal recessive) | Loss-of-function mutations impair splicing of retinal genes | ClinVar, OMIM |
| Joubert syndrome-like phenotype | Disrupted ciliary function due to splicing defects | OMIM |
| Bardet-Biedl syndrome-like features | Potential splicing dysregulation in ciliary transcripts | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Retina | 10.2 | Medium |
| Brain | 8.1 | Medium |
| Heart | 6.3 | Low |
| Liver | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | High expression |
| HeLa | 12.1 | Moderate expression |
| ARPE-19 | 9.8 | Retinal pigment epithelium model |
| SH-SY5Y | 7.4 | Neuronal cell line |
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; premature termination |
| c.502G>A (p.Gly168Arg) | Missense | Rare | Impaired splicing activity |
| c.832_833del (p.Leu278fs) | Frameshift | Rare | Loss of function; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated, non-functional protein; associated with retinitis pigmentosa.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
Not described; all reported pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
| • peptidyl-prolyl cis-trans isomerase activity (GO:0003755) | • mRNA processing (GO:0006397) |
| • RNA splicing (GO:0008380) | • spliceosomal complex (GO:0005681) |
| • cytoplasm (GO:0005737) |
Pathways
• Spliceosome (Reactome: R-HSA-72163)
• mRNA Splicing - Major Pathway (KEGG: hsa03040)
Protein Summary
CWC27 is a 473-amino acid cyclophilin that localizes to the spliceosome and catalyzes the cis-trans isomerization of proline peptide bonds. It is essential for efficient pre-mRNA splicing and is highly expressed in testis and retina. Loss of function leads to splicing defects and retinal degeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CWC27 Knockout HEK293 Cell Line | EDJ-KQ6991 | Human | 10283 | Details Get a Quote |
| CWC27 Knockout A-549 Cell Line | EDJ-KQ30326 | Human | 10283 | Details Get a Quote |
| CWC27 Knockout HCT 116 Cell Line | EDJ-KQ31709 | Human | 10283 | Details Get a Quote |
| CWC27 Knockout HeLa Cell Line | EDJ-KQ31710 | Human | 10283 | Details Get a Quote |
