CIRBP (Cold Inducible RNA Binding Protein)
A stress-responsive RNA chaperone involved in cold adaptation, circadian rhythm, and cellular stress responses.
Gene Information Card
| Symbol | CIRBP |
|---|---|
| Full Name | Cold Inducible RNA Binding Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 1153 ncbi.nlm.nih.gov/gene/1153 |
| Ensembl ID | ENSG00000105639 |
| UniProt ID | Q14011 |
| OMIM ID | 602649 |
| HGNC ID | 1982 |
| Aliases | CIRP, A18HNRNP, CIRP2 |
Description
CIRBP encodes a cold-inducible RNA-binding protein that functions as an RNA chaperone. It is upregulated in response to mild cold shock and other cellular stresses, modulating mRNA stability, translation, and alternative splicing. CIRBP plays roles in circadian rhythm regulation, cell proliferation, and stress adaptation. Its dysregulation is implicated in cancer, neurodegenerative diseases, and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression promotes tumor growth and chemoresistance via enhanced mRNA stability of oncogenes | PMID: 25605248 |
| Alzheimer's disease | Reduced CIRBP expression linked to tau pathology and synaptic dysfunction | PMID: 31028176 |
| Inflammatory bowel disease | CIRBP deficiency exacerbates intestinal inflammation via NF-κB pathway | PMID: 29127202 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Heart | 6.1 | Low |
| Liver | 3.4 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.3 | Cervical cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| A549 | 7.5 | Lung carcinoma cells |
| MCF7 | 6.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214C>T (p.Arg72Cys) | Missense | <0.01% | Unknown functional impact |
| c.347G>A (p.Arg116His) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in CIRBP.
Gain of Function (GOF)
Overexpression in tumors suggests potential gain-of-function in cancer contexts.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Circadian rhythm pathway (Reactome: R-HSA-400253)
• Cellular response to stress (Reactome: R-HSA-2262752)
• mRNA splicing - minor pathway (Reactome: R-HSA-72165)
Protein Summary
CIRBP is a 172-amino acid protein containing an N-terminal RNA recognition motif (RRM) and a C-terminal arginine-glycine-rich (RGG) domain. It shuttles between nucleus and cytoplasm, binding to target mRNAs to regulate their stability and translation under stress conditions. The protein is induced by cold shock and other stresses, and its expression is controlled by the circadian clock. CIRBP interacts with several RNA-binding proteins and transcription factors to modulate gene expression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIRBP Knockout HEK293 Cell Line | EDJ-KQ1921 | Human | 1153 | Details Get a Quote |
| CIRBP Knockout A-549 Cell Line | EDJ-KQ23205 | Human | 1153 | Details Get a Quote |
| CIRBP Knockout HCT 116 Cell Line | EDJ-KQ23206 | Human | 1153 | Details Get a Quote |
| CIRBP Knockout HeLa Cell Line | EDJ-KQ23207 | Human | 1153 | Details Get a Quote |
