CWC22
CWC22 Spliceosome Associated Protein Homolog
Gene Information Card
| Symbol | CWC22 |
|---|---|
| Full Name | CWC22 spliceosome associated protein homolog |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 57703 ncbi.nlm.nih.gov/gene/57703 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q9Y3C6 |
| OMIM ID | 618466 |
| HGNC ID | 28979 |
| Aliases | NCM, FLJ20309, HSPC148 |
Description
CWC22 encodes a protein component of the spliceosome complex, specifically involved in pre-mRNA splicing. It is required for the assembly of the spliceosome and facilitates the interaction between U2 and U5 snRNPs. The protein is conserved across eukaryotes and plays a critical role in RNA processing.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered splicing due to CWC22 mutations or dysregulation may contribute to oncogenesis. | COSMIC; literature |
| Intellectual disability | Homozygous loss-of-function mutations in CWC22 have been associated with neurodevelopmental disorders. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | RNA-seq data |
| HeLa | 9.8 | RNA-seq data |
| K562 | 7.5 | RNA-seq data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.01% | Unknown |
| c.1234C>T | nonsense | <0.01% | Loss of function |
| c.567_568insA | frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing spliceosome function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mRNA splicing (GO:0000398) | • spliceosomal complex (GO:0005681) |
| • spliceosomal tri-snRNP complex assembly (GO:0000244) | • protein binding (GO:0005515) |
Pathways
• mRNA Splicing - Major Pathway
• Spliceosome (Reactome: R-HSA-72163)
Protein Summary
The CWC22 protein is a 944-amino acid component of the spliceosome, localized to the nucleus. It contains a conserved domain (DUF1115) and is essential for the stable association of U2 and U5 snRNPs during spliceosome assembly. Its molecular weight is approximately 105 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| No Data | ||||
