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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CIDEC
cell death inducing DFFA like effector c
Chromosome 3 · 3p25.3
NCBI Gene: 63924Ensembl: ENSG00000187288.12HGNC: HGNC:24229UniProt: A0A0A0MRY9
51PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
ApoptosisTranscription FactorTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
execution phase of apoptosiscytosollipid droplet fusionlipid dropletCIDEC-related familial partial lipodystrophyfamilial partial lipodystrophy, Dunnigan typehyperpituitarismalcohol drinking
✦AI Summary

CIDEC (Cell Death-Inducing DFFA Like Effector C) is a lipid droplet-associated protein that plays a crucial role in adipose tissue lipid metabolism and energy homeostasis. The protein promotes unilocular lipid droplet formation through mediating lipid droplet fusion, localizing at focal contact sites between droplets and facilitating directional neutral lipid transfer from smaller to larger droplets 1. CIDEC functions as a key regulator of lipolysis by interacting with adipose triglyceride lipase (ATGL) and its activator CGI-58, thereby reducing free fatty acid release and preventing lipotoxicity 2. The protein's expression positively correlates with insulin sensitivity in obese humans, and transgenic mice expressing CIDEC show protection against high-fat diet-induced glucose intolerance 2. CIDEC expression runs parallel to mitochondrial genes in human adipose tissue and increases after bariatric surgery-induced weight loss 3. Disease relevance includes association with familial partial lipodystrophy type 5, where variants like E186X are linked to lipodystrophy, hypertriglyceridemia, and insulin resistance 2. Clinically, CIDEC represents a potential therapeutic target for obesity-induced metabolic disorders, with studies suggesting its use as a 'drug' or 'druggable' target to reverse lipotoxicity and glucose intolerance 2.

Sources cited
1
FSP27/CIDEC promotes lipid droplet formation and localizes at contact sites between droplets
PMID: 19843876
2
CIDEC regulates ATGL activity via CGI-58 interaction and protects against glucose intolerance
PMID: 35963433
3
CIDEC expression correlates with mitochondrial genes and increases after weight loss
PMID: 24126816
4
E186X variant associated with lipodystrophy and insulin resistance
PMID: 35963433
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
CIDEC-related familial partial lipodystrophyOpen Targets
0.51Moderate
familial partial lipodystrophy, Dunnigan typeOpen Targets
0.36Weak
hyperpituitarismOpen Targets
0.28Weak
alcohol drinkingOpen Targets
0.08Suggestive
achalasia-alacrima syndromeOpen Targets
0.07Suggestive
Barrett's esophagusOpen Targets
0.07Suggestive
squamous cell carcinomaOpen Targets
0.05Suggestive
lipodystrophy, congenital generalized, type 5Open Targets
0.05Suggestive
actinic keratosisOpen Targets
0.05Suggestive
sebaceous of Jadassohn nevusOpen Targets
0.05Suggestive
age-related macular degenerationOpen Targets
0.05Suggestive
AKT2-related familial partial lipodystrophyOpen Targets
0.05Suggestive
Familial partial lipodystrophy due to AKT2 mutationsOpen Targets
0.05Suggestive
LIPE-related familial partial lipodystrophyOpen Targets
0.05Suggestive
lipodystrophy, familial partial, type 8Open Targets
0.05Suggestive
Hepatic steatosisOpen Targets
0.04Suggestive
obesity due to melanocortin 4 receptor deficiencyOpen Targets
0.04Suggestive
Hyperlipoproteinemia type 1Open Targets
0.04Suggestive
familial partial lipodystrophy, Kobberling typeOpen Targets
0.04Suggestive
Familial partial lipodystrophy, Köbberling typeOpen Targets
0.04Suggestive
Lipodystrophy, familial partial, 5UniProt
Pathogenic Variants1
NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter)Pathogenic
CIDEC-related familial partial lipodystrophy
☆☆☆☆2009→ Residue 186
View on ClinVar ↗
Related Genes
DFFAProtein interaction92%ADIPOQProtein interaction86%PPARGProtein interaction86%LIPEProtein interaction81%FASNProtein interaction78%LEPProtein interaction76%
Tissue Expression6 tissues
Heart
100%
Liver
43%
Ovary
5%
Lung
5%
Brain
2%
Bone Marrow
0%
Gene Interaction Network
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CIDECDFFAADIPOQPPARGLIPEFASNLEP
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q96AQ7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.93LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.58 [0.38–0.93]
RankingsWhere CIDEC stands among ~20K protein-coding genes
  • #8,655of 20,598
    Most Researched51
  • #5,089of 5,498
    Most Pathogenic Variants1
  • #8,549of 17,882
    Most Constrained (LOEUF)0.93
Genes detectedCIDEC
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Adipose Triglyceride Lipase Regulation: An Overview.
PMID: 28925902
Curr Protein Pept Sci · 2018
1.00
2
Human CIDEC transgene improves lipid metabolism and protects against high-fat diet-induced glucose intolerance in mice.
PMID: 35963433
J Biol Chem · 2022
0.90
3
CIDEC/FSP27 and PLIN1 gene expression run in parallel to mitochondrial genes in human adipose tissue, both increasing after weight loss.
PMID: 24126816
Int J Obes (Lond) · 2014
0.80
4
Genetic and Epigenetic Regulation of the Innate Immune Response to Gout.
PMID: 36745138
Immunol Invest · 2023
0.70
5
Functional analysis of FSP27 protein regions for lipid droplet localization, caspase-dependent apoptosis, and dimerization with CIDEA.
PMID: 19843876
Am J Physiol Endocrinol Metab · 2009
0.60