Gene Gene information from NCBI Gene database.
Entrez ID 27141
Gene name Cell death inducing DFFA like effector b
Gene symbol CIDEB
Synonyms (NCBI Gene)
-
Chromosome 14
Chromosome location 14q12
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604441 1977 ENSG00000136305
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
AKALETLLLNGVLTLVLEEDGTAVDSEDFFQLLEDDTCLMVLQSGQSWS
PTRSGVLSYGL
GRERPKHSKDIARFTFDVYKQNPRDLFGSLNVKATFYGLYSMSCDFQGLGPKKVLRELLR
WTSTLLQGLGHMLLGISSTLRHAVEGAEQWQQKGRLHSY
Sequence length 219
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Cholesterol metabolism  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANORECTAL MALFORMATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through 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