CIDEA

Summary

CIDEA (cell death inducing DFFA like effector a, HGNC:1976) is a protein-coding gene on chromosome 18p11.21, encoding Lipid transferase CIDEA (O60543). Lipid transferase that promotes unilocular lipid droplet formation by mediating lipid droplet fusion.

This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified.

Source: NCBI Gene 1149 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 51 total — 2 pathogenic
• MANE Select transcript: NM_001279

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1976
Approved symbol	CIDEA
Name	cell death inducing DFFA like effector a
Location	18p11.21
Locus type	gene with protein product
Status	Approved
Aliases	CIDE-A
Ensembl gene	ENSG00000176194
Ensembl biotype	protein_coding
OMIM	604440
Entrez	1149

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding_CDS_not_defined, 1 protein_coding, 1 nonsense_mediated_decay

ENST00000320477, ENST00000520620, ENST00000521296, ENST00000522713

RefSeq mRNA: 2 — MANE Select: NM_001279 NM_001279, NM_001318383

CCDS: CCDS11856

Canonical transcript exons

ENST00000320477 — 5 exons

Exon	Start	End
ENSE00001261168	12254361	12254421
ENSE00001855893	12277123	12277595
ENSE00003473938	12274093	12274274
ENSE00003658018	12264307	12264453
ENSE00003668035	12262825	12262969

Expression profiles

Bgee: expression breadth ubiquitous, 165 present calls, max score 95.68.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.8036 / max 359.5549, expressed in 111 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
169484	0.8036	111

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adipose tissue of abdominal region	UBERON:0007808	95.68	gold quality
omental fat pad	UBERON:0010414	95.55	gold quality
peritoneum	UBERON:0002358	95.44	gold quality
adipose tissue	UBERON:0001013	95.31	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.43	gold quality
connective tissue	UBERON:0002384	93.04	gold quality
upper leg skin	UBERON:0004262	92.47	gold quality
mammalian vulva	UBERON:0000997	88.04	gold quality
lower esophagus mucosa	UBERON:0035834	82.59	gold quality
synovial joint	UBERON:0002217	82.06	gold quality
upper arm skin	UBERON:0004263	81.82	gold quality
skin of abdomen	UBERON:0001416	81.52	gold quality
skin of leg	UBERON:0001511	80.37	gold quality
zone of skin	UBERON:0000014	80.24	gold quality
penis	UBERON:0000989	76.37	gold quality
cortical plate	UBERON:0005343	76.02	gold quality
prefrontal cortex	UBERON:0000451	75.38	gold quality
pericardium	UBERON:0002407	74.63	gold quality
nipple	UBERON:0002030	73.89	gold quality
mucosa of stomach	UBERON:0001199	72.00	gold quality
thoracic mammary gland	UBERON:0005200	72.00	gold quality
mammary gland	UBERON:0001911	71.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	71.51	gold quality
right frontal lobe	UBERON:0002810	71.12	gold quality
hindlimb stylopod muscle	UBERON:0004252	70.78	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	70.41	silver quality
frontal cortex	UBERON:0001870	70.07	gold quality
layer of synovial tissue	UBERON:0007616	70.06	gold quality
tibial nerve	UBERON:0001323	70.04	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	69.92	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-10855	yes	1166.07
E-MTAB-9841	yes	1051.85
E-ANND-3	no	1.29

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CCDC3, ESRRA, FOXA3, NRF1, PPARA, PPARG, SP1, SP3, SREBF1, TRPV4

miRNA regulators (miRDB)

14 targeting CIDEA, 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-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-629-5P	98.78	68.72	1032
HSA-MIR-676-5P	98.49	68.87	1492
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-8057	97.64	66.54	897
HSA-MIR-6807-5P	97.51	64.25	1046
HSA-MIR-493-3P	97.50	66.44	731

Literature-anchored findings (GeneRIF, showing 24)

• We propose an important and human-specific role for CIDEA in lipolysis regulation and metabolic complications of obesity. (PMID:15919794)
• results support a role for cell death-inducing DFFA (DNA fragmentation factor-alpha)-like effector A (CIDEA) alleles in human obesity (PMID:16186410)
• deglycosylation of CIDE-A correlated with enhanced nuclear export of the protein, and that high level of nonglycosylated CIDE-A inhibited TGFbeta1-dependent cell death. (PMID:17080483)
• No dysregulation of CIDEA expression was observed in individuals with the metabolic syndrome (PMID:17895319)
• The expression of the CIDE-A gene was regulated by CpG methylation of the promoter region. (PMID:18033804)
• F allele of the CIDEA gene may serve as a risk factor for phenotypes related to metabolic syndrome in Japanese men. (PMID:18328351)
• Cidea and other lipid droplet proteins define a novel, highly regulated pathway of triglyceride deposition in human WAT. (PMID:18509062)
• CIDEa is sequestered in mitochondria while transfer of this potentially dangerous protein from mitochondria into nucleus intensifies or even initiates apoptosis. (PMID:18645223)
• CIDEA is involved in adipose tissue loss in cancer cachexia and this may, at least in part, be due to its ability to inactivate PDC, thereby switching substrate oxidation in human fat cells from glucose to FAs. (PMID:19010897)
• 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)
• Methylation status of CIDEA, HAAO and RXFP3 had significant association with microsatellite instability in endometrial tumors. (PMID:20211485)
• These data indicate that the carboxy-terminal domain of Cidea directs lipid droplet targeting, lipid droplet clustering, and triglyceride accumulation, whereas the amino terminal domain is required for Cidea-mediated development of enlarged lipid droplets (PMID:20810722)
• CIDEC is essential for the differentiation of adipose tissue (PMID:20945533)
• The proportion of subjects with CIDEA) gene V115F (G/T) polymorphism with phenotypes of metabolic syndrome in a Chinese population was significantly higher based on genotype, in the order: GG (PMID:21106268)
• CIDEA binds to liver X receptors and regulates their activity in vitro. (PMID:21315073)
• 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)
• CIDE proteins expression correlate with tumor and survival characteristics in patients with renal cell carcinoma. (PMID:23475172)
• the association of tag-single nucleotide polymorphisms and haplotype structures of the CIDEA gene with obesity in a Han Chinese population, was investigated. (PMID:24057179)
• Since Cide-A protein plays a role in the development of metabolic diseases such as obesity, metabolic syndrome, type 2 diabetes and their vascular complications, CIDE -A gene and protein are potential therapeutic targets for these diseases. (PMID:24413203)
• The lowest mean relative of the gene expression for CIDE-A was observed in the group of obese patients with aortic aneurysm and lipid disorders (PMID:25720106)
• These data establish a functional role for Cidea and suggest that, in humans, the association between Cidea levels in white fat and metabolic health is not only correlative but also causative. (PMID:26118629)
• Cidea, unexpectedly, functions molecularly as an indirect inhibitor of thermogenesis via inhibition of UCP1 activity. (PMID:27923808)
• The Differential Expression of Cide Family Members is Associated with Nafld Progression from Steatosis to Steatohepatitis. (PMID:31097771)
• CIDEA expression in SAT from adolescent girls with obesity and unfavorable patterns of abdominal fat distribution. (PMID:34672413)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	cidea	ENSDARG00000098245
mus_musculus	Cidea	ENSMUSG00000024526
rattus_norvegicus	Cidea	ENSRNOG00000018505
drosophila_melanogaster	Drep2	FBGN0028408

Paralogs (3): CIDEB (ENSG00000136305), DFFA (ENSG00000160049), CIDEC (ENSG00000187288)

Protein

Protein identifiers

Lipid transferase CIDEA — O60543 (reviewed: O60543)

Alternative names: Cell death activator CIDE-A, Cell death-inducing DFFA-like effector A

All UniProt accessions (2): E5RJ03, O60543

UniProt curated annotations — full annotation on UniProt →

Function. Lipid transferase that 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 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 and occurs at a lower rate than that promoted by CIDEC. May also act as a CEBPB coactivator in epithelial cells to control the expression of a subset of CEBPB downstream target genes, including ID2, IGF1, PRLR, SOCS1, SOCS3, XDH, but not casein. By interacting with CEBPB, strengthens the association of CEBPB with the XDH promoter, increases histone acetylation and dissociates HDAC1 from the promoter. When overexpressed, induces apoptosis; the physiological significance of its role in apoptosis is unclear.

Subunit / interactions. Homodimer. Interacts with CIDEC. Directly interacts with CEBPB. Interacts with isoform CLSTN3beta of CLSTN3; inhibiting the lipid transferase activity of CIDEA.

Subcellular location. Lipid droplet. Nucleus.

Tissue specificity. Expressed in omental and subcutaneous adipose tissue (at protein level).

Disease relevance. In omental and subcutaneous adipose tissue of obese patients matched for BMI, expression levels correlate with insulin sensitivity. Expression is increased 5-6 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.

Domain organisation. The amphipathic helix mediates embedding into the lipid droplet phospholipid monolayer, promoting phosphatidic acid-binding, thereby facilitating triacylglycerol transfer. 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.

RefSeq proteins (2): NP_001270, NP_001305312 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003508	CIDE-N_dom	Domain
IPR032936	CIDEA_N	Domain

Pfam: PF02017

Catalyzed reactions (Rhea), 1 shown:

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

UniProt features (12 total): strand 5, helix 2, chain 1, domain 1, region of interest 1, sequence variant 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2EEL	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60543-F1	75.69	0.32

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-8964572	Lipid particle organization
R-HSA-9844594	Transcriptional regulation of brown and beige adipocyte differentiation by EBF2

MSigDB gene sets: 143 (showing top): GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, BENPORATH_ES_WITH_H3K27ME3, GOBP_RESPONSE_TO_COLD, GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_DNA_CATABOLIC_PROCESS, BORLAK_LIVER_CANCER_EGF_UP, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOBP_CYTOKINE_PRODUCTION, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP

GO Biological Process (18): temperature homeostasis (GO:0001659), negative regulation of cytokine production (GO:0001818), lipid metabolic process (GO:0006629), apoptotic process (GO:0006915), lipid storage (GO:0019915), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of tumor necrosis factor production (GO:0032720), response to stilbenoid (GO:0035634), fat cell differentiation (GO:0045444), negative regulation of lipid catabolic process (GO:0050995), cellular response to cold (GO:0070417), negative regulation of cold-induced thermogenesis (GO:0120163), lipid droplet fusion (GO:0160077), negative regulation of execution phase of apoptosis (GO:1900118), regulation of apoptotic DNA fragmentation (GO:1902510), negative regulation of multicellular organismal process (GO:0051241), regulation of macromolecule metabolic process (GO:0060255), intermembrane lipid transfer (GO:0120009)

GO Molecular Function (3): protein homodimerization activity (GO:0042803), phosphatidic acid binding (GO:0070300), lipid transfer activity (GO:0120013)

GO Cellular Component (6): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial envelope (GO:0005740), lipid droplet (GO:0005811), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of lipids	1
Transcriptional regulation of brown and beige adipocyte differentiation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of multicellular organismal process	2
execution phase of apoptosis	2
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
cytoplasm	2
multicellular organismal-level homeostasis	1
cytokine production	1
regulation of cytokine production	1
negative regulation of gene expression	1
primary metabolic process	1
programmed cell death	1
apoptotic signaling pathway	1
nutrient storage	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	1
tumor necrosis factor production	1
regulation of tumor necrosis factor production	1
negative regulation of tumor necrosis factor superfamily cytokine production	1
response to chemical	1
cell differentiation	1
negative regulation of catabolic process	1
lipid catabolic process	1
negative regulation of lipid metabolic process	1
regulation of lipid catabolic process	1
response to cold	1
cellular response to stress	1
cold-induced thermogenesis	1
regulation of cold-induced thermogenesis	1
lipid droplet organization	1
organelle fusion	1
negative regulation of apoptotic process	1
regulation of execution phase of apoptosis	1
apoptotic DNA fragmentation	1
regulation of DNA catabolic process	1
multicellular organismal process	1
negative regulation of biological process	1
regulation of multicellular organismal process	1
regulation of metabolic process	1
macromolecule metabolic process	1

Protein interactions and networks

STRING

1018 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CIDEA	UCP1	P25874	933
CIDEA	PLIN1	O60240	926
CIDEA	PRDM16	Q9HAZ2	880
CIDEA	DFFB	O76075	843
CIDEA	PPARG	P37231	827
CIDEA	PPARGC1A	Q9UBK2	811
CIDEA	ELOVL3	Q9HB03	809
CIDEA	DIO2	Q92813	808
CIDEA	TMEM26	Q6ZUK4	803
CIDEA	LIPE	Q05469	791
CIDEA	COX7A1	P24310	788
CIDEA	PNPLA2	Q96AD5	770
CIDEA	SLC25A19	Q9HC21	754
CIDEA	ADRB3	P13945	722
CIDEA	ADIPOQ	Q15848	673

IntAct

6 interactions, top by confidence:

A	B	Type	Score
NR1H2	CIDEA	psi-mi:“MI:0407”(direct interaction)	0.440
Dlg4	CIDEA	psi-mi:“MI:0407”(direct interaction)	0.440
CIDEA	IGHG2	psi-mi:“MI:0914”(association)	0.350
CIDEA	ALB	psi-mi:“MI:0914”(association)	0.350
CIDEA	ZBTB16	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): CIDEA (Affinity Capture-Western), PRKAB1 (Affinity Capture-Western), IGHG2 (Affinity Capture-MS), PKP1 (Affinity Capture-MS), S100A14 (Affinity Capture-MS), SERPINA12 (Affinity Capture-MS), PKP3 (Affinity Capture-MS), CIDEC (Affinity Capture-Western), CIDEC (Two-hybrid), ICAM1 (Affinity Capture-MS), SERPINA12 (Affinity Capture-MS), IGHG2 (Affinity Capture-MS), KPRP (Affinity Capture-MS), PKP1 (Affinity Capture-MS), ZBTB16 (Two-hybrid)

ESM2 similar proteins: A0A494C086, A0A494C0Z2, A0A494C191, A0JPH4, A6NHP3, A6NIY4, A6NJR5, A6NLX3, A6NNV3, A6QLI5, B0BNE4, O08918, O60543, O70302, O75916, P0CI01, P0DTA3, P0DUD1, P0DUD2, P0DUD3, P0DUD4, P0DUX0, P0DUX1, P0DV79, P24864, P39949, P49805, Q12967, Q495Y7, Q495Y8, Q4VXA5, Q4ZIN3, Q5IBH6, Q5IBH7, Q5MJ70, Q5SYB0, Q5XIQ2, Q5ZJR9, Q61457, Q6AYG1

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

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	43
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
441993	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1	Pathogenic
815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	Pathogenic

SpliceAI

734 predictions. Top by Δscore:

Variant	Effect	Δscore
18:12264300:C:G	acceptor_gain	1.0000
18:12264449:TGCCG:T	donor_gain	1.0000
18:12264450:GCCG:G	donor_gain	1.0000
18:12264450:GCCGG:G	donor_gain	1.0000
18:12264451:CCG:C	donor_gain	1.0000
18:12264451:CCGG:C	donor_loss	1.0000
18:12264452:CG:C	donor_gain	1.0000
18:12264452:CGG:C	donor_loss	1.0000
18:12264453:GG:G	donor_gain	1.0000
18:12264453:GGTA:G	donor_loss	1.0000
18:12264454:G:GA	donor_loss	1.0000
18:12264454:G:GG	donor_gain	1.0000
18:12264455:T:G	donor_loss	1.0000
18:12274270:CTGAG:C	donor_loss	1.0000
18:12274271:TGAG:T	donor_loss	1.0000
18:12274275:G:A	donor_loss	1.0000
18:12262941:C:T	donor_gain	0.9900
18:12262966:CAAG:C	donor_loss	0.9900
18:12262967:AAGG:A	donor_loss	0.9900
18:12262968:AG:A	donor_loss	0.9900
18:12262969:GGT:G	donor_loss	0.9900
18:12262970:G:GA	donor_loss	0.9900
18:12262971:T:G	donor_loss	0.9900
18:12264299:A:AG	acceptor_gain	0.9900
18:12264301:A:AG	acceptor_gain	0.9900
18:12264302:C:G	acceptor_gain	0.9900
18:12264302:CCTA:C	acceptor_loss	0.9900
18:12264303:CTA:C	acceptor_loss	0.9900
18:12264304:TA:T	acceptor_loss	0.9900
18:12264305:A:AC	acceptor_loss	0.9900

AlphaMissense

1413 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:12264365:G:T	G81V	0.995
18:12262902:T:A	V39D	0.993
18:12262959:T:C	L58P	0.991
18:12264388:T:C	F89L	0.991
18:12264390:C:A	F89L	0.991
18:12264390:C:G	F89L	0.991
18:12262895:T:C	F37L	0.990
18:12262897:C:A	F37L	0.990
18:12262897:C:G	F37L	0.990
18:12264365:G:A	G81D	0.989
18:12264419:T:C	F99S	0.989
18:12264361:G:C	D80H	0.988
18:12264445:T:A	W108R	0.988
18:12264445:T:C	W108R	0.988
18:12262896:T:C	F37S	0.984
18:12264362:A:C	D80A	0.984
18:12264392:T:C	F90S	0.984
18:12264362:A:T	D80V	0.982
18:12264447:G:C	W108C	0.981
18:12264447:G:T	W108C	0.981
18:12262959:T:A	L58H	0.980
18:12264363:T:A	D80E	0.980
18:12264363:T:G	D80E	0.980
18:12264374:T:A	V84E	0.980
18:12264428:T:C	L102S	0.980
18:12264353:T:C	L77P	0.979
18:12262904:T:C	S40P	0.978
18:12274148:T:A	V129D	0.977
18:12264389:T:C	F89S	0.974
18:12274207:G:C	A149P	0.974

dbSNP variants (sampled 300 via entrez): RS1000045030 (18:12261927 G>A), RS1000099055 (18:12267803 T>C), RS1000232853 (18:12260241 G>A), RS1000263972 (18:12260005 T>C), RS1000416335 (18:12265687 A>G), RS1000499029 (18:12276959 G>A), RS1000555792 (18:12267965 G>A), RS1000679016 (18:12255073 C>T), RS1000686540 (18:12252392 C>T), RS1000905764 (18:12273954 T>C), RS1000988291 (18:12270094 A>G), RS1001114251 (18:12254870 G>A,C), RS1001152369 (18:12261304 A>C), RS1001162764 (18:12252360 G>A,T), RS1001396417 (18:12267330 C>T)

Disease associations

OMIM: gene MIM:604440 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST009302_4	Antipsychotic drug-induced weight gain in schizophrenia	4.000000e-06
GCST010219_18	Attention deficit hyperactivity disorder (inattention symptoms)	5.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004567	antipsychotic drug related weight gain

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs75614943	CIDEA		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Dexamethasone	affects cotreatment, decreases expression, increases expression	3
Benzo(a)pyrene	decreases expression, increases methylation	2
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate	increases expression	1
4-biphenylamine	decreases expression	1
VX-agent	increases expression	1
arsenite	increases methylation	1
delphinidin	increases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	increases expression	1
acetyl methyl tetramethyl tetralin	affects cotreatment, decreases expression	1
usnic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
SRT2183	increases expression	1
2-((4-(1-methyl-4-pyridin-4-yl-1H-pyrazol-3-yl)phenoxy)methyl)quinoline	increases expression	1
bisphenol AF	affects cotreatment, increases expression	1
Rosiglitazone	affects cotreatment, increases expression	1
Decitabine	affects binding, increases reaction, decreases methylation, increases expression	1
Arsenic Trioxide	increases expression	1
Tolcapone	increases expression	1
Arsenic	affects cotreatment, decreases expression	1
Biotin	affects cotreatment, decreases expression	1
Boron Compounds	increases expression	1
Fluorides	affects cotreatment, decreases expression	1
Menthol	increases expression	1
Nickel	decreases expression	1
Pantothenic Acid	affects cotreatment, decreases expression	1
Paraquat	increases expression	1

Clinical trials (associated diseases)

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