CIDEC (cell death inducing DFFA like effector c)

Gene

• Entrez ID: 63924
• Gene name: Cell death inducing DFFA like effector c
• Gene symbol: CIDEC
• Synonyms (NCBI Gene): CIDE-3, CIDE3, FPLD5, FSP27
• Chromosome: 3
• Chromosome location: 3p25.3
• Summary: 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 apo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776968	C>A	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT551225	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT551224	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT551223	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT551222	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT551221	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT551220	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT551219	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT308723	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT551218	hsa-miR-4717-3p	PAR-CLIP	21572407
MIRT551217	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT551216	hsa-miR-137	PAR-CLIP	21572407
MIRT551215	hsa-miR-548aw	PAR-CLIP	21572407
MIRT551214	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT551213	hsa-miR-527	PAR-CLIP	21572407
MIRT551225	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT551224	hsa-miR-25-3p	PAR-CLIP	21572407
MIRT551223	hsa-miR-32-5p	PAR-CLIP	21572407
MIRT551222	hsa-miR-363-3p	PAR-CLIP	21572407
MIRT551221	hsa-miR-367-3p	PAR-CLIP	21572407
MIRT551220	hsa-miR-92a-3p	PAR-CLIP	21572407
MIRT551219	hsa-miR-92b-3p	PAR-CLIP	21572407
MIRT308723	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT551218	hsa-miR-4717-3p	PAR-CLIP	21572407
MIRT551217	hsa-miR-889-3p	PAR-CLIP	21572407
MIRT551216	hsa-miR-137	PAR-CLIP	21572407
MIRT551215	hsa-miR-548aw	PAR-CLIP	21572407
MIRT551214	hsa-miR-518a-5p	PAR-CLIP	21572407
MIRT551213	hsa-miR-527	PAR-CLIP	21572407
MIRT893483	hsa-miR-1321	CLIP-seq
MIRT893484	hsa-miR-1539	CLIP-seq
MIRT893485	hsa-miR-2277-5p	CLIP-seq
MIRT893486	hsa-miR-3126-5p	CLIP-seq
MIRT893487	hsa-miR-3151	CLIP-seq
MIRT893488	hsa-miR-3193	CLIP-seq
MIRT893489	hsa-miR-3689d	CLIP-seq
MIRT893490	hsa-miR-4419a	CLIP-seq
MIRT893491	hsa-miR-4447	CLIP-seq
MIRT893492	hsa-miR-4472	CLIP-seq
MIRT893493	hsa-miR-4479	CLIP-seq
MIRT893494	hsa-miR-4510	CLIP-seq
MIRT893495	hsa-miR-4710	CLIP-seq
MIRT893496	hsa-miR-4739	CLIP-seq
MIRT893497	hsa-miR-4756-5p	CLIP-seq
MIRT893498	hsa-miR-491-5p	CLIP-seq
MIRT1964878	hsa-miR-1266	CLIP-seq
MIRT1964879	hsa-miR-4518	CLIP-seq
MIRT1964880	hsa-miR-510	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005811	Component	Lipid droplet	IBA
GO:0005811	Component	Lipid droplet	IDA	23399566
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IDA	12429024
GO:0005829	Component	Cytosol	TAS
GO:0006869	Process	Lipid transport	IEA
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IDA	12429024
GO:0006915	Process	Apoptotic process	IEA
GO:0019915	Process	Lipid storage	IBA
GO:0019915	Process	Lipid storage	IDA	18334488, 23399566
GO:0019915	Process	Lipid storage	IEA
GO:0034389	Process	Lipid droplet organization	IMP	20049731
GO:0050995	Process	Negative regulation of lipid catabolic process	IDA	18334488, 23399566
GO:0050995	Process	Negative regulation of lipid catabolic process	IEA
GO:0070300	Function	Phosphatidic acid binding	ISS
GO:0090209	Process	Negative regulation of triglyceride metabolic process	ISS
GO:0097194	Process	Execution phase of apoptosis	IDA	12429024
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120013	Function	Lipid transfer activity	IBA
GO:0120013	Function	Lipid transfer activity	ISS
GO:0140693	Function	Molecular condensate scaffold activity	ISS
GO:0160077	Process	Lipid droplet fusion	IBA
GO:0160077	Process	Lipid droplet fusion	IDA	23399566, 30361435
GO:0160077	Process	Lipid droplet fusion	IEA

Other IDs

• MIM: 612120
• HGNC: 24229
• e!Ensembl: ENSG00000187288

Protein

• UniProt ID: Q96AQ7
• Protein name: Lipid transferase CIDEC (Cell death activator CIDE-3) (Cell death-inducing DFFA-like effector protein C) (Fat-specific protein FSP27 homolog)
• Protein function: 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 dr
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02017	CIDE-N	42 → 117	CIDE-N domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed mainly in adipose tissue, small intestine, heart, colon and stomach and, at lower levels, in brain, kidney and liver. {ECO:0000269|PubMed:12429024, ECO:0000269|PubMed:18334488}.
• Sequence:

  MEYAMKSLSLLYPKSLSRHVSVRTSVVTQQLLSEPSPKAPRARPCRVSTADRSVRKGIMA
  YSLEDLLLKVRDTLMLADKPFFLVLEEDGTTVETEEYFQALAGDTVFMVLQKGQKWQPPS
  EQGTRHPLSLSHKPAKKIDVARVTFDLYKLNPQDFIGCLNVKATFYDTYSLSYDLHCCGA
  KRIMKEAFRWALFSMQATGHVLLGTSCYLQQLLDATEEGQPPKGKASSLIPTCLKILQ

• Sequence length: 238

Pathways

KEGG:

Regulation of lipolysis in adipocytes

Reactome:

Lipid particle organization

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CIDEC-related familial partial lipodystrophy	Pathogenic	rs587776968	RCV000043528	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CIDEC-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY KOBBERLING TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PARTIAL LIPODYSTROPHY, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31750299		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29859472		★☆☆☆☆ Found in Text Mining only
Asymmetric Septal Hypertrophy	Septal Hypertrophy	BEFREE	26099526		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29859472		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31292488	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31288815	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23475172	Stimulate	★☆☆☆☆ Found in Text Mining only
CIDEC-related familial partial lipodystrophy	Partial Lipodystrophy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	17374397		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	18334488		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18334488, 30919313		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20190390, 29078040, 31599132		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	29859472		★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	21865368		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial partial lipodystrophy	Partial Lipodystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 1	Partial Lipodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23640498, 28566630, 28874443, 29454584, 31564684, 31745102		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31702809		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31683443		★☆☆☆☆ Found in Text Mining only
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	BEFREE	20049731		★☆☆☆☆ Found in Text Mining only
Insulin-resistant diabetes mellitus	Insulin-resistant diabetes mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	31288815	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	21865368		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5	Lipodystrophy	ORPHANET_DG	20049731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5	Lipodystrophy	GENOMICS_ENGLAND_DG	20049731		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5	Lipodystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular Degeneration	Macular degeneration	Pubtator	37079518	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20190390		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	28415694	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29859472		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36931749	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28038473		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28874443		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19276890, 20190390, 23436919, 24126816, 25210844, 27884961, 28874443, 29704545, 30919313		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19661960, 31433737, 36931749, 37871278	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27062372	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity Abdominal	Obesity	Pubtator	31433737	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Partial lipodystrophy	Partial Lipodystrophy	BEFREE	20049731		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28038473	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23640498, 28566630, 28874443, 29454584, 31097771, 31564684, 31745102		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37978443	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	38305604	Associate	★☆☆☆☆ Found in Text Mining only