CIDEB (cell death inducing DFFA like effector b)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 27141
• Gene name: Cell death inducing DFFA like effector b
• Gene symbol: CIDEB
• Synonyms (NCBI Gene): -
• Chromosome: 14
• Chromosome location: 14q12

miRNA Show/Hide all (13)

miRTarBase ID	miRNA	Experiments	Reference
MIRT2386098	hsa-miR-1262	CLIP-seq
MIRT2386099	hsa-miR-1293	CLIP-seq
MIRT2386100	hsa-miR-2110	CLIP-seq
MIRT2386101	hsa-miR-4271	CLIP-seq
MIRT2386102	hsa-miR-4483	CLIP-seq
MIRT2386103	hsa-miR-4701-3p	CLIP-seq
MIRT2386104	hsa-miR-4725-3p	CLIP-seq
MIRT2386105	hsa-miR-491-5p	CLIP-seq
MIRT2447070	hsa-miR-3127-5p	CLIP-seq
MIRT2447071	hsa-miR-3689a-3p	CLIP-seq
MIRT2447072	hsa-miR-3689c	CLIP-seq
MIRT2447073	hsa-miR-3918	CLIP-seq
MIRT2447074	hsa-miR-4728-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12595532, 28514442, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005811	Component	Lipid droplet	IBA
GO:0005811	Component	Lipid droplet	IDA	35939579
GO:0005811	Component	Lipid droplet	IEA
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IDA	12429024
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IDA	12429024
GO:0006915	Process	Apoptotic process	IEA
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	TAS	10619428
GO:0016020	Component	Membrane	IEA
GO:0019915	Process	Lipid storage	IBA
GO:0019915	Process	Lipid storage	IEA
GO:0030127	Component	COPII vesicle coat	IEA
GO:0030127	Component	COPII vesicle coat	ISS
GO:0030137	Component	COPI-coated vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0034379	Process	Very-low-density lipoprotein particle assembly	IEA
GO:0034379	Process	Very-low-density lipoprotein particle assembly	ISS
GO:0042802	Function	Identical protein binding	IPI	12595532, 32296183
GO:0043065	Process	Positive regulation of apoptotic process	IDA	12595532
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12595532
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060090	Function	Molecular adaptor activity	ISS
GO:0070300	Function	Phosphatidic acid binding	IEA
GO:0090110	Process	COPII-coated vesicle cargo loading	IEA
GO:0090110	Process	COPII-coated vesicle cargo loading	ISS
GO:0090207	Process	Regulation of triglyceride metabolic process	IEA
GO:0090207	Process	Regulation of triglyceride metabolic process	ISS
GO:0097194	Process	Execution phase of apoptosis	IEA
GO:0097194	Process	Execution phase of apoptosis	ISS	9564035
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:0160077	Process	Lipid droplet fusion	IBA
GO:0160077	Process	Lipid droplet fusion	IEA
GO:0160077	Process	Lipid droplet fusion	IMP	35939579

Other IDs

• MIM: 604441
• HGNC: 1977
• e!Ensembl: ENSG00000136305

Protein

• UniProt ID: Q9UHD4
• Protein name: Lipid transferase CIDEB (Cell death activator CIDE-B) (Cell death-inducing DFFA-like effector B)
• Protein function: Lipid transferase specifically expressed in hepatocytes, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion (PubMed:35939579). Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring l
• PDB: 1D4B
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02017	CIDE-N	35 → 109	CIDE-N domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in liver and small intestine and, at lower levels, in colon, kidney and spleen. {ECO:0000269|PubMed:12429024}.
• Sequence:

  MEYLSALNPSDLLRSVSNISSEFGRRVWTSAPPPQRPFRVCDHKRTIRKGLTAATRQELL
  AKALETLLLNGVLTLVLEEDGTAVDSEDFFQLLEDDTCLMVLQSGQSWSPTRSGVLSYGL
  GRERPKHSKDIARFTFDVYKQNPRDLFGSLNVKATFYGLYSMSCDFQGLGPKKVLRELLR
  WTSTLLQGLGHMLLGISSTLRHAVEGAEQWQQKGRLHSY

• Sequence length: 219

Pathways

KEGG Pathway:

Cholesterol metabolism

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	Reference	Evidence Score
ANORECTAL MALFORMATION	—	GWAS catalog	31136621	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23475172	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26936111		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26936111	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	19661960	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	35475772	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for CIDEB.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to CIDEB.