CIDEC: Cell Death Inducing DFFA Like Effector C
Key regulator of lipid droplet biology and adipocyte metabolism
Gene Information Card
| Symbol | CIDEC |
|---|---|
| Full Name | Cell Death Inducing DFFA Like Effector C |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.3 |
| NCBI Gene ID | 63924 ncbi.nlm.nih.gov/gene/63924 |
| Ensembl ID | ENSG00000187288 |
| UniProt ID | Q96AQ7 |
| OMIM ID | 612120 |
| HGNC ID | 24229 |
| Aliases | FSP27, CIDE-3, CIDE3 |
Description
CIDEC (Cell Death Inducing DFFA Like Effector C) encodes a member of the cell death-inducing DFFA-like effector (CIDE) family. The protein is primarily expressed in adipose tissue and plays a critical role in lipid droplet formation, fusion, and storage. CIDEC promotes unilocular lipid droplet formation in adipocytes by facilitating lipid transfer between droplets. Mutations in CIDEC are associated with familial partial lipodystrophy type 5 (FPLD5), characterized by loss of subcutaneous fat, insulin resistance, and metabolic abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Familial partial lipodystrophy type 5 (FPLD5) | Loss-of-function mutations in CIDEC impair lipid droplet fusion, leading to reduced adipocyte lipid storage and ectopic lipid accumulation. | OMIM #612120; ClinVar |
| Insulin resistance / Type 2 diabetes | CIDEC deficiency disrupts normal adipose tissue function, contributing to systemic insulin resistance. | OMIM #612120; NCBI Gene |
| Metabolic syndrome | Altered CIDEC expression and function are linked to dyslipidemia and hepatic steatosis. | NCBI Gene; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | High | High |
| Liver | Low | Low |
| Skeletal muscle | Very low | Not detected |
| Heart | Very low | Not detected |
| Kidney | Very low | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| 3T3-L1 (adipocyte) | High | Differentiated adipocytes |
| HepG2 (hepatocyte) | Low | Low expression |
| HeLa (cervical) | Not detected | No significant expression |
| HEK293 (embryonic kidney) | Not detected | No significant expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.415C>T (p.Arg139*) | Nonsense | Rare | Loss of function; associated with FPLD5 |
| c.539G>A (p.Arg180Gln) | Missense | Rare | Loss of function; impaired lipid droplet fusion |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no protein production |
Mutation functional classification
Loss of Function (LOF)
Nonsense, missense, and start-loss mutations that reduce or abolish CIDEC protein function, leading to defective lipid droplet formation and partial lipodystrophy.
Gain of Function (GOF)
No gain-of-function mutations reported in CIDEC.
Dominant Negative (DN)
No dominant-negative mutations reported in CIDEC.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Adipogenesis
• Lipid droplet formation and fusion
• PPAR signaling pathway
Protein Summary
CIDEC (FSP27) is a 238-amino acid protein localized to lipid droplet surfaces. It contains a CIDE-N domain and a CIDE-C domain, which mediate homodimerization and lipid transfer between droplets. CIDEC promotes the formation of large unilocular lipid droplets by facilitating fusion of smaller droplets, a process essential for efficient energy storage in white adipose tissue. The protein also interacts with PLIN1 and other lipid droplet-associated proteins to regulate lipolysis and lipid homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CIDEC Knockout HEK293 Cell Line | EDJ-KQ11944 | Human | 63924 | Details Get a Quote |
| CIDEC Knockout A-549 Cell Line | EDJ-KQ40457 | Human | 63924 | Details Get a Quote |
| CIDEC Knockout HeLa Cell Line | EDJ-KQ56997 | Human | 63924 | Details Get a Quote |
| CIDEC Knockout HCT 116 Cell Line | EDJ-KQ73938 | Human | 63924 | Details Get a Quote |
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