CSDC2 Gene: Cold Shock Domain-Containing Protein C2
A comprehensive biomedical overview of the CSDC2 gene, including its structure, expression, and clinical relevance.
Gene Information Card
| Symbol | CSDC2 |
|---|---|
| Full Name | Cold Shock Domain Containing C2 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.2 |
| NCBI Gene ID | 27254 ncbi.nlm.nih.gov/gene/27254 |
| Ensembl ID | ENSG00000100219 |
| UniProt ID | Q9Y534 |
| OMIM ID | 611687 |
| HGNC ID | 24573 |
| Aliases | DANBRY, FLJ22624 |
Description
CSDC2 encodes a protein containing a cold-shock domain, which is involved in RNA binding and post-transcriptional regulation. The protein is predominantly expressed in the brain and may play a role in neuronal development and function. CSDC2 has been implicated in certain cancers and neurological conditions, though its full functional repertoire remains under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioblastoma | Altered expression may affect RNA metabolism and cell proliferation | COSMIC: expression changes in tumor samples |
| Colorectal cancer | Potential role in mRNA stability of oncogenes | COSMIC: mutation data |
| Neurodevelopmental disorders | Possible involvement in neuronal RNA processing | UniProt: expression in brain; limited clinical evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 5.2 | Low |
| Lung | 3.1 | Low |
| Liver | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| HeLa (cervical carcinoma) | 4.8 | Moderate |
| A549 (lung carcinoma) | 2.2 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.01% (gnomAD) | Unknown; predicted benign |
| c.456C>T (p.Ser152Leu) | Missense | 0.005% | Potential impact on RNA binding |
| c.789delC (p.Leu264Trpfs*13) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to premature stop codons likely result in nonsense-mediated decay or truncated protein, reducing RNA-binding capacity.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported in literature.
Dominant Negative (DN)
No evidence of dominant-negative effects; CSDC2 is not known to form dimers.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • Cold shock protein binding |
| • Cytoplasm | • Nucleus |
| • Regulation of translation | • mRNA stabilization |
Pathways
• mRNA surveillance pathway
• Post-transcriptional regulation of gene expression
Protein Summary
The CSDC2 protein is a 264-amino acid polypeptide with a cold-shock domain (CSD) that binds RNA. It is localized in both the cytoplasm and nucleus, suggesting roles in mRNA transport, stability, and translation. Expression is highest in the brain, indicating a neuron-specific function. Structural studies are limited, but the CSD is known to recognize single-stranded RNA motifs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSDC2 Knockout HEK293 Cell Line | EDJ-KQ8736 | Human | 27254 | Details Get a Quote |
| CSDC2 Knockout A-549 Cell Line | EDJ-KQ34981 | Human | 27254 | Details Get a Quote |
| CSDC2 Knockout HeLa Cell Line | EDJ-KQ33718 | Human | 27254 | Details Get a Quote |
| CSDC2 Knockout HCT 116 Cell Line | EDJ-KQ72985 | Human | 27254 | Details Get a Quote |
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