CIDEA (cell death inducing DFFA like effector a)

Gene

• Entrez ID: 1149
• Gene name: Cell death inducing DFFA like effector a
• Gene symbol: CIDEA
• Synonyms (NCBI Gene): CIDE-A
• Chromosome: 18
• Chromosome location: 18p11.21|18
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019409	hsa-miR-148b-3p	Microarray	17612493
MIRT2200858	hsa-miR-421	CLIP-seq
MIRT2200859	hsa-miR-4422	CLIP-seq
MIRT2200860	hsa-miR-4803	CLIP-seq
MIRT2200861	hsa-miR-543	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001659	Process	Temperature homeostasis	IEA
GO:0001659	Process	Temperature homeostasis	ISS
GO:0001818	Process	Negative regulation of cytokine production	IMP	15919794
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	17080483
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	17080483
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005740	Component	Mitochondrial envelope	IEA
GO:0005740	Component	Mitochondrial envelope	ISS
GO:0005811	Component	Lipid droplet	IDA	18509062
GO:0005811	Component	Lipid droplet	IEA
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	ISS
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IEA
GO:0019915	Process	Lipid storage	IBA
GO:0019915	Process	Lipid storage	IDA	19843876, 26118629
GO:0019915	Process	Lipid storage	IEA
GO:0019915	Process	Lipid storage	ISS
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	ISS	17080483
GO:0032720	Process	Negative regulation of tumor necrosis factor production	IMP	15919794
GO:0035634	Process	Response to stilbenoid	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	ISS	17080483
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS	18509062
GO:0050995	Process	Negative regulation of lipid catabolic process	IDA	26118629
GO:0050995	Process	Negative regulation of lipid catabolic process	IEA
GO:0050995	Process	Negative regulation of lipid catabolic process	IMP	15919794
GO:0050995	Process	Negative regulation of lipid catabolic process	ISS
GO:0051241	Process	Negative regulation of multicellular organismal process	IEA
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0070300	Function	Phosphatidic acid binding	IEA
GO:0070300	Function	Phosphatidic acid binding	ISS
GO:0070417	Process	Cellular response to cold	IEA
GO:0120009	Process	Intermembrane lipid transfer	IEA
GO:0120013	Function	Lipid transfer activity	IBA
GO:0120013	Function	Lipid transfer activity	IEA
GO:0120013	Function	Lipid transfer activity	ISS
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	IEA
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	12910269
GO:0160077	Process	Lipid droplet fusion	IBA
GO:0160077	Process	Lipid droplet fusion	IDA	19843876
GO:0160077	Process	Lipid droplet fusion	IEA
GO:1900118	Process	Negative regulation of execution phase of apoptosis	IEA
GO:1900118	Process	Negative regulation of execution phase of apoptosis	ISS	17080483
GO:1902510	Process	Regulation of apoptotic DNA fragmentation	IEA
GO:1902510	Process	Regulation of apoptotic DNA fragmentation	ISS	9564035

Other IDs

• MIM: 604440
• HGNC: 1976
• e!Ensembl: ENSG00000176194

Protein

• UniProt ID: O60543
• Protein name: Lipid transferase CIDEA (Cell death activator CIDE-A) (Cell death-inducing DFFA-like effector A)
• Protein function: Lipid transferase that promotes unilocular lipid droplet formation by mediating lipid droplet fusion (PubMed:19843876, PubMed:26118629). Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage (PubMed:19
• PDB: 2EEL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02017	CIDE-N	34 → 109	CIDE-N domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in omental and subcutaneous adipose tissue (at protein level). {ECO:0000269|PubMed:18509062}.
• Sequence:

  MEAARDYAGALIRPLTFMGSQTKRVLFTPLMHPARPFRVSNHDRSSRRGVMASSLQELIS
  KTLDALVIATGLVTLVLEEDGTVVDTEEFFQTLGDNTHFMILEKGQKWMPGSQHVPTCSP
  PKRSGIARVTFDLYRLNPKDFIGCLNVKATMYEMYSVSYDIRCTGLKGLLRSLLRFLSYS
  AQVTGQFLIYLGTYMLRVLDDKEERPSLRSQAKGRFTCG

• Sequence length: 219

Pathways

KEGG:

AMPK signaling pathway

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	20205715	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	26670611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis Atopic	Atopic dermatitis	Pubtator	35462437	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37597213	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28721439		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20211485		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20211485	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	26670611		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	34672413	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	24983748	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34672413	Inhibit	★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	25058030, 28108177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	25058030, 28108177		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	18328351, 21106268		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	26670611		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	36931749	Inhibit	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31097771		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16186410, 17895319, 18328351, 21106268, 24057179, 24484739, 31097771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	19661960, 24983748, 34672413, 36931749, 37597213	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	19661960	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	20975297		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	20975297	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	36790659	Associate	★☆☆☆☆ Found in Text Mining only