CIDEC

Summary

CIDEC (cell death inducing DFFA like effector c, HGNC:24229) is a protein-coding gene on chromosome 3p25.3, encoding Lipid transferase CIDEC (Q96AQ7). Lipid transferase specifically expressed in white adipose tissue, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion.

This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene.

Source: NCBI Gene 63924 — RefSeq curated summary.

At a glance

• Gene–disease (curated): CIDEC-related familial partial lipodystrophy (Supportive, GenCC)
• Clinical variants (ClinVar): 81 total — 2 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 22
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_001321142

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24229
Approved symbol	CIDEC
Name	cell death inducing DFFA like effector c
Location	3p25.3
Locus type	gene with protein product
Status	Approved
Aliases	CIDE-3, FLJ20871, Fsp27
Ensembl gene	ENSG00000187288
Ensembl biotype	protein_coding
OMIM	612120
Entrez	63924

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 16 protein_coding, 1 retained_intron

ENST00000336832, ENST00000383817, ENST00000423850, ENST00000430427, ENST00000443115, ENST00000455015, ENST00000487454, ENST00000618572, ENST00000675828, ENST00000679265, ENST00000879588, ENST00000949780, ENST00000949781, ENST00000949782, ENST00000949783, ENST00000949784, ENST00000949785

RefSeq mRNA: 8 — MANE Select: NM_001321142 NM_001199551, NM_001199552, NM_001199623, NM_001321142, NM_001321143, NM_001321144, NM_001378491, NM_022094

CCDS: CCDS2587, CCDS56239, CCDS74897, CCDS82731

Canonical transcript exons

ENST00000336832 — 7 exons

Exon	Start	End
ENSE00001077439	9877066	9877219
ENSE00001348213	9878942	9879054
ENSE00001647939	9866714	9867296
ENSE00001687827	9869882	9870069
ENSE00003617021	9870164	9870322
ENSE00003723648	9878434	9878511
ENSE00003901859	9880224	9880253

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 99.10.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 10.9480 / max 1367.2284, expressed in 176 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
40996	9.1205	112
40992	0.9983	117
40995	0.5108	67
40993	0.1986	53
40994	0.0912	40
202666	0.0285	16

Top tissues by expression

270 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
subcutaneous adipose tissue	UBERON:0002190	99.10	gold quality
adipose tissue	UBERON:0001013	98.81	gold quality
adipose tissue of abdominal region	UBERON:0007808	98.06	gold quality
omental fat pad	UBERON:0010414	97.97	gold quality
jejunal mucosa	UBERON:0000399	97.96	gold quality
peritoneum	UBERON:0002358	97.82	gold quality
ileal mucosa	UBERON:0000331	97.72	gold quality
connective tissue	UBERON:0002384	96.91	gold quality
skin of hip	UBERON:0001554	96.25	gold quality
duodenum	UBERON:0002114	93.30	gold quality
thoracic mammary gland	UBERON:0005200	90.89	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.73	gold quality
mammary gland	UBERON:0001911	90.61	gold quality
parotid gland	UBERON:0001831	90.24	silver quality
mammary duct	UBERON:0001765	89.55	gold quality
small intestine Peyer’s patch	UBERON:0003454	88.97	gold quality
small intestine	UBERON:0002108	88.40	gold quality
diaphragm	UBERON:0001103	86.24	gold quality
synovial joint	UBERON:0002217	86.22	gold quality
epithelium of mammary gland	UBERON:0003244	86.08	gold quality
pancreatic ductal cell	CL:0002079	85.58	silver quality
tibial nerve	UBERON:0001323	83.69	gold quality
type B pancreatic cell	CL:0000169	83.45	gold quality
olfactory bulb	UBERON:0002264	83.36	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	82.67	silver quality
left coronary artery	UBERON:0001626	81.42	gold quality
hindlimb stylopod muscle	UBERON:0004252	81.40	gold quality
trabecular bone tissue	UBERON:0002483	81.08	silver quality
coronary artery	UBERON:0001621	80.51	gold quality
transverse colon	UBERON:0001157	78.80	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.82

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, EGR1, NFAT5, PPARG

miRNA regulators (miRDB)

26 targeting CIDEC, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-499B-5P	98.35	68.39	988
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-510-5P	97.66	65.82	916
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-6515-5P	97.08	65.48	1219
HSA-MIR-6762-5P	96.55	64.62	972
HSA-MIR-6845-5P	96.55	64.65	969
HSA-MIR-4296	96.35	63.55	1233
HSA-MIR-1539	92.91	60.97	91
HSA-MIR-4497	92.25	64.06	134

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 27)

• cloning and characterization as a member of the cell-death-inducing DNA-fragmentation-factor (DFF45)-like effector family (PMID:12429024)
• FSP27 binds to lipid droplets and regulates their enlargement (PMID:18334488)
• CIDEC is a regulator of adipocyte lipid metabolism and may be important for the adipocyte to adapt to changes in energy availability. (PMID:18702959)
• Following gastric bypass the hepatic expression of CIDEC is downregulated by marked weight loss. (PMID:19661960)
• CIDEC is required for unilocular lipid droplet formation and optimal energy storage in human. (PMID:20049731)
• These results suggest that CIDEA and CIDEC are novel genes regulated by insulin in human adipocytes and may play key roles in the effects of insulin, such as anti-apoptosis and lipid droplet formation. (PMID:20154362)
• Insulin regulates CIDEA and CIDEC expression via PI3K, and it regulates expression of each protein via Akt1/2-and JNK2-dependent pathways, respectively, in human adipocytes. (PMID:21636835)
• Results demonstrated that CIDEC-induced apoptosis was independent of FADD, suggesting that CIDEC-induced apoptosis might be in a death-receptor-independent, caspase-8-dependent manner. (PMID:21865223)
• Fsp27/CIDEC is a CREB target gene induced during early fasting in liver and regulated by FA oxidation rate. (PMID:23220584)
• The results suggest that FSP27 not only modulates LD homeostasis but also modulates the response to osmotic stress via a physical interaction with NFAT5 at the LD surface. (PMID:23233732)
• CIDE proteins expression correlate with tumor and survival characteristics in patients with renal cell carcinoma. (PMID:23475172)
• homo-dimeric structure of the CIDE-N domain of FSP27 will provide important information that will enable better understanding of the function of FSP27. (PMID:24025675)
• After bariatric surgery-induced weight loss, CIDEC/FSP27 gene/protein expression in SAT increased significantly. Findings suggest a positive functional interaction between CIDEC/FSP27 & mitochondrial biogenesis-related genes in human adipose tissue (PMID:24126816)
• results demonstrate a crucial role for FSP27-ATGL interactions in regulating lipolysis, triglyceride accumulation, and insulin signaling in human adipocytes (PMID:24627478)
• Data indicate that fat-specific protein 27 (FSP27) increases the inhibitory effect of transcription factor Egr1 on the adipose triglyceride lipase (ATGL) promoter. (PMID:24742676)
• It is insinuated that VAT is associated with late phase obesity CIDEC decrease and insulin resistance, while pioglitazone enhances CIDEC through activation of PPAR-gamma, increases its expression, and decreases lipolysis. (PMID:25210844)
• Hepatic expression of FSP27/CIDEC is highly up-regulated in in patients with alcoholic steatohepatitis and this up-regulation contributes to alcohol-induced liver damage. (PMID:26099526)
• data suggested that Cidec could interact with and down-regulate AMPKalpha through an ubiquitin-proteasome degradation pathway, which provided a possible mechanism of Cidec in promoting human adipocytes differentiation (PMID:26367078)
• this study has indicated that 3’ UTR variation in CIDEC is associated with the risk of elevated fasting glucose, the progression of hypertriglyceridemia and hypertension, and the efficacy of angiotensin II-targeted antihypertensive agents. (PMID:28415694)
• Two tissue-specific CIDEc isoforms had different roles in lipid deposition. (PMID:29080839)
• FTO increased the lipid accumulation in hepatocytes by increasing nuclear translocation of SREBP1c and SREBP1c maturation, thus improving the transcriptional activity of lipid droplet-associated protein CIDEC. (PMID:29486327)
• ApoA5 can inhibit the adipogenic differentiation of AMSC,and this effect may be mediated by down-regulating the expression of CIDEC. Furthermore, our results indicate that CIDEC could be considered as a key factor in adipogenic differentiation. (PMID:30139016)
• The Differential Expression of Cide Family Members is Associated with Nafld Progression from Steatosis to Steatohepatitis. (PMID:31097771)
• Fat-Specific Protein 27 Regulation of Vascular Function in Human Obesity. (PMID:31433737)
• New Insights into Apolipoprotein A5 and the Modulation of Human Adipose-derived Mesenchymal Stem Cells Adipogenesis. (PMID:31560287)
• Rare CIDEC coding variants enriched in age-related macular degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects. (PMID:37079518)
• Paxillin family proteins Hic-5 and LPXN promote lipid storage by regulating the ubiquitination degradation of CIDEC. (PMID:38159847)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cidec	ENSDARG00000059651
mus_musculus	Cidec	ENSMUSG00000030278
rattus_norvegicus	Cidec	ENSRNOG00000009153
drosophila_melanogaster	Drep2	FBGN0028408

Paralogs (3): CIDEB (ENSG00000136305), DFFA (ENSG00000160049), CIDEA (ENSG00000176194)

Protein

Protein identifiers

Lipid transferase CIDEC — Q96AQ7 (reviewed: Q96AQ7)

Alternative names: Cell death activator CIDE-3, Cell death-inducing DFFA-like effector protein C, Fat-specific protein FSP27 homolog

All UniProt accessions (3): A0A0A0MRY9, A0A0C4DG75, Q96AQ7

UniProt curated annotations — full annotation on UniProt →

Function. Lipid transferase specifically expressed in white adipose tissue, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion. Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage. 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. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair. Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1. 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. When overexpressed in preadipocytes, induces apoptosis or increases cell susceptibility to apoptosis induced by serum deprivation or TGFB treatment.

Subunit / interactions. Homodimer. Homooligomer; undergoes liquid-liquid phase separation (LLPS) via its N-terminus, facilitating lipid droplet fusion, occurs at the lipid droplet contact sites. Interacts with CIDEA. Interacts with PLIN1. Interacts with NFAT5; this interaction is direct and retains NFAT5 in the cytoplasm. Interacts with CEBPB. Interacts with isoform CLSTN3beta of CLSTN3; inhibiting the lipid transferase activity of CIDEC.

Subcellular location. Lipid droplet. Endoplasmic reticulum. Nucleus.

Tissue specificity. Expressed mainly in adipose tissue, small intestine, heart, colon and stomach and, at lower levels, in brain, kidney and liver.

Post-translational modifications. Ubiquitinated and targeted to proteasomal degradation, resulting in a short half-life (about 15 minutes in 3T3-L1 cells). Protein stability depends on triaclyglycerol synthesis, fatty acid availability and lipid droplet formation.

Disease relevance. In omental adipose tissue of obese patients matched for BMI, expression levels tend to correlate with insulin sensitivity. Expression is increased 2-3 fold in the group of patients with high insulin sensitivity, compared to the insulin-resistant group. This observation is consistent with the idea that triglyceride storage in adipocytes plays an important role in sequestering triglycerides and fatty acids away from the circulation and peripheral tissues, thus enhancing insulin sensitivity in liver and muscle. This effect is not significant in subcutaneous adipose tissue. In subcutaneous adipose tissue of diabetic patients, tends to negatively correlate with body mass index and total fat mass, independently of insulin sensitivity. Lipodystrophy, familial partial, 5 (FPLD5) [MIM:615238] An autosomal recessive form of lipodystrophy characterized by loss of subcutaneous adipose tissue affecting limb, femorogluteal and subcutaneous abdominal fat, preservation of visceral, neck and axilliary fat, hepatomegaly, hepatic steatosis and insulin-resistant diabetes. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The CIDE-N domain is involved in homodimerization which is crucial for its function in promoting lipid exchange and transfer.

Similarity. Belongs to the CIDE family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q96AQ7-1	1, CIDE-3	yes
Q96AQ7-2	2, CIDE-3alpha
Q96AQ7-3	3, CIDE-3beta
Q96AQ7-4	4

RefSeq proteins (8): NP_001186480, NP_001186481, NP_001186552, NP_001308071, NP_001308072, NP_001308073, NP_001365420, NP_071377 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003508	CIDE-N_dom	Domain

Pfam: PF02017

Catalyzed reactions (Rhea), 1 shown:

• a triacyl-sn-glycerol(in) = a triacyl-sn-glycerol(out) (RHEA:39011)

UniProt features (9 total): splice variant 4, chain 1, domain 1, region of interest 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96AQ7-F1	74.19	0.26

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (1):

Position	Phenotype
125	does not affect ability to mediate lipid droplet fusion.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8964572	Lipid particle organization
R-HSA-9841922	MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
R-HSA-8963889	Assembly of active LPL and LIPC lipase complexes

MSigDB gene sets: 181 (showing top): GOBP_REGULATION_OF_TRIGLYCERIDE_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_CATABOLIC_PROCESS, BACH2_01, LANDIS_ERBB2_BREAST_PRENEOPLASTIC_DN, TGANTCA_AP1_C, GOBP_LIPID_METABOLIC_PROCESS, BERTUCCI_INVASIVE_CARCINOMA_DUCTAL_VS_LOBULAR_DN, GOBP_NEUTRAL_LIPID_METABOLIC_PROCESS, SANSOM_APC_TARGETS_DN

GO Biological Process (9): apoptotic process (GO:0006915), lipid storage (GO:0019915), lipid droplet organization (GO:0034389), negative regulation of lipid catabolic process (GO:0050995), negative regulation of triglyceride metabolic process (GO:0090209), execution phase of apoptosis (GO:0097194), lipid droplet fusion (GO:0160077), lipid transport (GO:0006869), intermembrane lipid transfer (GO:0120009)

GO Molecular Function (4): phosphatidic acid binding (GO:0070300), lipid transfer activity (GO:0120013), molecular condensate scaffold activity (GO:0140693), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), lipid droplet (GO:0005811), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Metabolism of lipids	1
Epigenetic regulation of adipogenesis genes by MLL3 and MLL4 complexes	1
Plasma lipoprotein remodeling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of lipid metabolic process	2
intracellular membrane-bounded organelle	2
cytoplasm	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
nutrient storage	1
organelle organization	1
negative regulation of catabolic process	1
lipid catabolic process	1
regulation of lipid catabolic process	1
triglyceride metabolic process	1
regulation of triglyceride metabolic process	1
apoptotic process	1
cellular process	1
bleb assembly	1
lipid droplet organization	1
organelle fusion	1
transport	1
lipid localization	1
lipid transport	1
membrane organization	1
phospholipid binding	1
anion binding	1
transporter activity	1
lipid carrier activity	1
intermembrane lipid transfer	1
protein-macromolecule adaptor activity	1
binding	1
endomembrane system	1
intracellular membraneless organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

908 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CIDEC	PLIN1	O60240	959
CIDEC	DFFA	O00273	916
CIDEC	PPARG	P37231	818
CIDEC	LIPE	Q05469	755
CIDEC	CD36	P16671	722
CIDEC	SCARB2	Q14108	718
CIDEC	SCARB1	Q8WTV0	706
CIDEC	FASN	P49327	700
CIDEC	PLIN2	Q99541	680
CIDEC	PLIN5	Q00G26	668
CIDEC	PNPLA2	Q96AD5	663
CIDEC	LEP	P41159	660
CIDEC	PLIN4	Q96Q06	660
CIDEC	BSCL2	Q96G97	657
CIDEC	ABHD5	Q8WTS1	631

IntAct

21 interactions, top by confidence:

A	B	Type	Score
ZBTB42	CIDEC	psi-mi:“MI:0915”(physical association)	0.560
SPATA12	CIDEC	psi-mi:“MI:0915”(physical association)	0.560
CIDEC	KLHL20	psi-mi:“MI:0915”(physical association)	0.560
UFSP1	CIDEC	psi-mi:“MI:0915”(physical association)	0.560
METTL15	CIDEC	psi-mi:“MI:0915”(physical association)	0.560
NR0B2	CIDEC	psi-mi:“MI:0915”(physical association)	0.560
CIDEC	GSTT1	psi-mi:“MI:0915”(physical association)	0.400
CIDEC	PRSS2	psi-mi:“MI:0914”(association)	0.350
CIDEC	ZBTB42	psi-mi:“MI:0915”(physical association)	0.000
CIDEC	METTL15	psi-mi:“MI:0915”(physical association)	0.000
CIDEC	SPATA12	psi-mi:“MI:0915”(physical association)	0.000
CIDEC	KLHL20	psi-mi:“MI:0915”(physical association)	0.000
CIDEC	UFSP1	psi-mi:“MI:0915”(physical association)	0.000
CIDEC	NR0B2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (18): CIDEC (Affinity Capture-Western), CIDEC (Two-hybrid), CIDEC (Two-hybrid), EGR1 (Affinity Capture-Western), PRSS2 (Affinity Capture-MS), TOP1 (Affinity Capture-MS), AMFR (Affinity Capture-Western), AMFR (Co-localization), CIDEC (Two-hybrid), CIDEC (Two-hybrid), CIDEC (Two-hybrid), CIDEC (Two-hybrid), CIDEC (Two-hybrid), CIDEC (Two-hybrid), GSTT1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1L8HBI7, A0A1L8HJK9, A0A1L8HTT5, A4QP16, A6NP61, B2RVL6, C0SPG1, C3VD30, K7SGN7, O54880, P56163, Q1XFL1, Q29RJ0, Q2KI52, Q32L09, Q3V0J4, Q4R2Y2, Q4R739, Q58D79, Q5RAK6, Q5TKR9, Q5VWQ0, Q6PDK8, Q768S4, Q7T3T8, Q7T3T9, Q80T69, Q86US8, Q86Y01, Q8AW93, Q8BMD7, Q8BRB7, Q8BZ21, Q8CAK3, Q8CDN1, Q8HXK7, Q8K3Y6, Q8N2G6, Q8N9V6, Q8TE76

Diamond homologs: F1MN90, O00273, O54786, O60543, O70302, O70303, P56198, Q3T191, Q5XI33, Q96AQ7, Q9UHD4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

81 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	44
Likely benign	11
Benign	19

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
50400	NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter)	Pathogenic
57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	Pathogenic
4845911	NM_001321142.2(CIDEC):c.610_611del (p.Gly204fs)	Likely pathogenic

SpliceAI

784 predictions. Top by Δscore:

Variant	Effect	Δscore
3:9869880:A:AC	donor_gain	1.0000
3:9869881:C:CC	donor_gain	1.0000
3:9869881:CTT:C	donor_gain	1.0000
3:9869883:T:TA	donor_gain	1.0000
3:9869952:T:TA	donor_gain	1.0000
3:9870065:GTCCC:G	acceptor_gain	1.0000
3:9870066:TCCC:T	acceptor_gain	1.0000
3:9870067:CCC:C	acceptor_gain	1.0000
3:9870067:CCCC:C	acceptor_gain	1.0000
3:9870068:CC:C	acceptor_gain	1.0000
3:9870068:CCC:C	acceptor_gain	1.0000
3:9870069:CC:C	acceptor_gain	1.0000
3:9870069:CCTG:C	acceptor_loss	1.0000
3:9870070:C:A	acceptor_loss	1.0000
3:9870070:C:CC	acceptor_gain	1.0000
3:9870075:T:TC	acceptor_gain	1.0000
3:9870158:CCTCA:C	donor_loss	1.0000
3:9870159:CTCA:C	donor_loss	1.0000
3:9870160:TCA:T	donor_loss	1.0000
3:9870161:CAC:C	donor_loss	1.0000
3:9870162:A:AG	donor_loss	1.0000
3:9870163:C:G	donor_loss	1.0000
3:9870323:CTGGG:C	acceptor_loss	1.0000
3:9877215:CATGC:C	acceptor_gain	1.0000
3:9878427:T:A	donor_gain	1.0000
3:9878510:ACC:A	acceptor_loss	1.0000
3:9878512:C:CC	acceptor_gain	1.0000
3:9878512:C:CG	acceptor_loss	1.0000
3:9878513:T:A	acceptor_loss	1.0000
3:9869878:TCACT:T	donor_loss	0.9900

AlphaMissense

1542 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:9870184:A:G	W116R	0.962
3:9870184:A:T	W116R	0.962
3:9870264:C:A	G89V	0.958
3:9870182:C:A	W116C	0.948
3:9870182:C:G	W116C	0.948
3:9870014:G:T	A141D	0.944
3:9877076:A:G	L66P	0.940
3:9867269:G:C	S194R	0.923
3:9867269:G:T	S194R	0.923
3:9867271:T:G	S194R	0.923
3:9869989:C:A	K149N	0.921
3:9869989:C:G	K149N	0.921
3:9870268:C:G	D88H	0.920
3:9870210:A:G	F107S	0.919
3:9870201:A:G	L110P	0.917
3:9870264:C:T	G89D	0.916
3:9870266:A:C	D88E	0.910
3:9870266:A:T	D88E	0.910
3:9870008:A:T	V143E	0.909
3:9867255:C:T	G199D	0.905
3:9870183:C:G	W116S	0.900
3:9877133:A:T	V47E	0.899
3:9870236:G:C	F98L	0.888
3:9870236:G:T	F98L	0.888
3:9870238:A:G	F98L	0.888
3:9869954:A:T	V161E	0.886
3:9877118:C:G	R52P	0.883
3:9870267:T:A	D88V	0.882
3:9870237:A:G	F98S	0.880
3:9870002:A:G	F145S	0.878

dbSNP variants (sampled 300 via entrez): RS1000209301 (3:9876052 G>A), RS1000941362 (3:9875305 A>T), RS1000973986 (3:9875010 A>G), RS1001228656 (3:9869259 GT>G,GTT), RS1001278373 (3:9873692 T>G), RS1001488347 (3:9871682 T>G), RS1001579443 (3:9867595 G>C), RS1001824767 (3:9880061 C>T), RS1002208668 (3:9877951 G>A), RS1002483289 (3:9867853 C>T), RS1002544183 (3:9879621 G>A), RS1002596481 (3:9879215 C>T), RS1002976342 (3:9872079 C>T), RS1003039087 (3:9872808 T>C), RS1003335074 (3:9870897 C>T)

Disease associations

OMIM: gene MIM:612120 | disease phenotypes: MIM:615238, MIM:616022, MIM:616445

GenCC curated gene-disease

Disease	Classification	Inheritance
CIDEC-related familial partial lipodystrophy	Supportive	Autosomal recessive

Mondo (3): CIDEC-related familial partial lipodystrophy (MONDO:0014098), autosomal recessive severe congenital neutropenia due to JAGN1 deficiency (MONDO:0014456), candidiasis, familial, 9 (MONDO:0014642)

Orphanet (3): CIDEC-related familial partial lipodystrophy (Orphanet:435651), Severe congenital neutropenia due to JAGN1 deficiency (Orphanet:423384), Chronic mucocutaneous candidiasis (Orphanet:1334)

HPO phenotypes

22 total (22 of 22 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000147	Polycystic ovaries
HP:0000292	Loss of facial adipose tissue
HP:0000822	Hypertension
HP:0000831	Insulin-resistant diabetes mellitus
HP:0000858	Irregular menstruation
HP:0000876	Oligomenorrhea
HP:0000956	Acanthosis nigricans
HP:0001397	Hepatic steatosis
HP:0001733	Pancreatitis
HP:0001953	Diabetic ketoacidosis
HP:0002155	Hypertriglyceridemia
HP:0002240	Hepatomegaly
HP:0003292	Decreased serum leptin
HP:0003621	Juvenile onset
HP:0003635	Loss of subcutaneous adipose tissue in limbs
HP:0003712	Skeletal muscle hypertrophy
HP:0008981	Calf muscle hypertrophy
HP:0009017	Loss of gluteal subcutaneous adipose tissue
HP:0009125	Lipodystrophy
HP:0030685	Decreased adiponectin level
HP:0030796	Increased C-peptide level

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

60 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Dexamethasone	affects cotreatment, increases expression	5
Rosiglitazone	affects cotreatment, increases expression, decreases reaction	3
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	3
bisphenol A	increases expression	2
perfluorooctanoic acid	increases expression	2
nickel sulfate	increases expression	2
Troglitazone	increases expression	2
Benzo(a)pyrene	affects expression, increases expression	2
Indomethacin	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	decreases expression, decreases reaction	2
Cyclosporine	decreases expression, increases expression	2
Palmitic Acid	affects cotreatment, increases expression, decreases expression	2
perfluorodecanesulfonic acid	increases expression	1
tungsten carbide	decreases expression, affects cotreatment	1
triphenyl phosphate	increases expression	1
tributyltin	decreases reaction, increases expression	1
ascorbate-2-phosphate	affects binding, affects cotreatment, increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
beta-lapachone	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
aflatoxin B2	increases methylation	1
acetyl methyl tetramethyl tetralin	increases expression, affects cotreatment	1
4-(2-(5,6,7,8-tetrahydro-5,5,8,8-tetramethyl-2-naphthalenyl)-1-propenyl)benzoic acid	affects cotreatment, decreases expression	1
ciglitazone	affects binding, increases expression	1
triflumizol	affects cotreatment, increases expression	1
di-n-butyltin	increases expression, decreases reaction	1
diethyl malate	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
T 0070907	decreases expression, decreases reaction, increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.