CIDEB Gene
Cell Death-Inducing DFFA-Like Effector B
Gene Information Card
| Symbol | CIDEB |
|---|---|
| Full Name | Cell Death-Inducing DFFA-Like Effector B |
| Gene Type | Protein coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 2719 ncbi.nlm.nih.gov/gene/2719 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9UHD4 |
| OMIM ID | 604536 |
| HGNC ID | 1979 |
| Aliases | CIDE-B, CIDE-BETA |
Description
CIDEB encodes a member of the cell death-inducing DFFA-like effector (CIDE) family. The protein is involved in apoptosis, lipid droplet formation, and lipid metabolism. It is predominantly expressed in the liver and plays a role in regulating hepatic lipid homeostasis and very low-density lipoprotein (VLDL) secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Non-alcoholic fatty liver disease (NAFLD) | CIDEB deficiency reduces hepatic lipid accumulation and VLDL secretion, protecting against steatosis. | PMID: 28302723 |
| Obesity-related insulin resistance | Altered CIDEB expression in adipose tissue affects lipid storage and insulin sensitivity. | PMID: 21518877 |
| Hepatocellular carcinoma | CIDEB downregulation is associated with increased cell survival and tumor progression. | PMID: 23708656 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Adipose tissue | 3.2 | Medium |
| Kidney | 1.8 | Low |
| Small intestine | 0.9 | Low |
| Spleen | 0.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 8.7 | Hepatocellular carcinoma cell line |
| Huh7 | 7.1 | Hepatoma cell line |
| 3T3-L1 (adipocyte) | 4.5 | Differentiated adipocytes |
| HeLa | 0.3 | Cervical carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, predicted loss of function |
| c.325C>T (p.Arg109Trp) | Missense | 0.02% | Alters CIDE-N domain, reduced apoptosis |
| c.487G>A (p.Gly163Arg) | Missense | 0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Mutations disrupting the start codon or CIDE-N domain impair pro-apoptotic activity and lipid droplet regulation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described in literature.
View complete mutation data：
Gene Ontology (GO)
| • apoptotic process (GO:0006915) | • negative regulation of lipid storage (GO:0010888) |
| • identical protein binding (GO:0042802) | • nucleus (GO:0005634) |
| • cytosol (GO:0005829) |
Pathways
• Apoptosis (KEGG hsa04210)
• PPAR signaling pathway (KEGG hsa03320)
• Lipid droplet formation (Reactome R-HSA-8978868)
Protein Summary
CIDEB is a 219-amino acid protein containing an N-terminal CIDE-N domain and a C-terminal CIDE-C domain. It forms homodimers and heterodimers with other CIDE family members. The protein localizes to the nucleus and cytosol, and its expression is induced by PPARγ agonists. CIDEB promotes apoptosis by activating caspase-3 and regulates lipid droplet size and VLDL secretion in hepatocytes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIDEB Knockout HEK293 Cell Line | EDJ-KQ51206 | Human | 27141 | Details Get a Quote |
| CIDEB Knockout HeLa Cell Line | EDJ-KQ56012 | Human | 27141 | Details Get a Quote |
| CIDEB Knockout A-549 Cell Line | EDJ-KQ64500 | Human | 27141 | Details Get a Quote |
| CIDEB Knockout HCT 116 Cell Line | EDJ-KQ72957 | Human | 27141 | Details Get a Quote |
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