CIDEA Gene - Cell Death Inducing DFFA Like Effector A
Comprehensive genomic and functional analysis of CIDEA, a key regulator of lipid metabolism and apoptosis.
Gene Information Card
| Symbol | CIDEA |
|---|---|
| Full Name | Cell Death Inducing DFFA Like Effector A |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 1149 ncbi.nlm.nih.gov/gene/1149 |
| Ensembl ID | ENSG00000101412 |
| UniProt ID | O60543 |
| OMIM ID | 604440 |
| HGNC ID | 1976 |
| Aliases | CIDE-A |
Description
CIDEA (Cell Death Inducing DFFA Like Effector A) is a protein-coding gene that plays a critical role in lipid droplet formation, energy metabolism, and apoptosis. It is highly expressed in brown adipose tissue and is involved in thermogenesis and lipid storage. Mutations and altered expression of CIDEA have been linked to obesity, type 2 diabetes, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity | CIDEA expression is reduced in adipose tissue, impairing lipid storage and thermogenesis, contributing to obesity. | PMID: 19029903, ClinVar |
| Type 2 Diabetes | Altered CIDEA expression affects insulin sensitivity and lipid metabolism, increasing diabetes risk. | PMID: 19029903, NCBI Gene |
| Non-alcoholic Fatty Liver Disease (NAFLD) | CIDEA promotes lipid droplet formation in hepatocytes; dysregulation leads to hepatic steatosis. | PMID: 25263552, OMIM |
| Cancer (e.g., breast, colorectal) | CIDEA is downregulated in some cancers, potentially affecting apoptosis and lipid metabolism. | COSMIC, PMID: 23555250 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue (brown) | 12.5 | High |
| Adipose tissue (white) | 8.2 | Medium |
| Liver | 3.1 | Low |
| Heart | 2.0 | Low |
| Skeletal muscle | 1.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 2.8 | Hepatocellular carcinoma cell line |
| MCF7 | 1.2 | Breast cancer cell line |
| 3T3-L1 (adipocyte) | 15.0 | Differentiated adipocyte model |
| HeLa | 0.9 | Cervical cancer 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% | Likely loss of function; associated with altered lipid metabolism |
| c.115C>T (p.Arg39Cys) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.238G>A (p.Glu80Lys) | Missense | <0.01% | Unknown; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Reduced CIDEA expression or loss-of-function mutations impair lipid droplet formation and thermogenesis, contributing to obesity and metabolic disorders.
Gain of Function (GOF)
Not well characterized; no common gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations have been described for CIDEA.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Apoptosis (KEGG: hsa04210)
• PPAR signaling pathway (KEGG: hsa03320)
• Lipid droplet formation (Reactome: R-HSA-8963896)
Protein Summary
The CIDEA protein (UniProt O60543) is a 219-amino acid protein that localizes to lipid droplets and the cytoplasm. It contains a CIDE-N domain and is involved in promoting lipid droplet fusion and enlargement, as well as regulating apoptosis. CIDEA is a key player in brown adipose tissue thermogenesis and energy homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIDEA Knockout HEK293 Cell Line | EDJ-KQ1182 | Human | 1149 | Details Get a Quote |
| CIDEA Knockout HeLa Cell Line | EDJ-KQ52911 | Human | 1149 | Details Get a Quote |
| CIDEA Knockout A-549 Cell Line | EDJ-KQ61377 | Human | 1149 | Details Get a Quote |
| CIDEA Knockout HCT 116 Cell Line | EDJ-KQ69873 | Human | 1149 | Details Get a Quote |
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