CIDEC

Chr 3p25.3

cell death inducing DFFA like effector c

Aliases:: CIDE-3, FLJ20871, Fsp27
MANE:: ENST00000336832.7

OMIM: 612120 ↗NCBI: 63924 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

CIDEC · Q96AQ7

v62025-08-01

Predicted Aligned Error matrix for CIDEC — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.8/ 100

Confident

238 residues

Confidence breakdown

Very high(≥ 90)27%
Confident(70–90)35%
Low(50–70)21%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Severe insulin resistance and lipodystrophy syndromes
BIALLELIC, autosomal or pseudoautosomal
Insulin resistance (including lipodystrophy)
BIALLELIC, autosomal or pseudoautosomal
Monogenic diabetes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

CIDEC-related familial partial lipodystrophy
0.51
hyperpituitarism
0.30
alcohol drinking
0.09
age-related macular degeneration
0.08
triple-A syndrome
0.07
Barrett esophagus
0.07
retinitis pigmentosa
0.07
Leber congenital amaurosis
0.06
Cone rod dystrophy
0.06
lipodystrophy, congenital generalized, type 5
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lipid transferase CIDEC

Lipid transferase specifically expressed in white adipose tissue, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566, PubMed:30361435). Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566). Localizes on the lipid droplet surface, at focal contact sites between lipid droplets, and mediates atypical lipid droplet fusion by undergoing liquid-liquid phase separation (LLPS) and promoting directional net neutral lipid transfer from the smaller to larger lipid droplets (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566). The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair (PubMed:18334488, PubMed:19843876, PubMed:20049731, PubMed:23399566). Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1 (PubMed:23399566). May also act as a CEBPB coactivator in the white adipose tissue to control the expression of a subset of CEBPB downstream target genes, including SOCS1, SOCS3, TGFB1, TGFBR1, ID2 and XDH (By similarity). When overexpressed in preadipocytes, induces apoptosis or increases cell susceptibility to apoptosis induced by serum deprivation or TGFB treatment (PubMed:12429024)