CIDEB (cell death inducing DFFA like effector b)
|
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
|
|||||||||||||||||||||||||
|
|||||||||||||||||||||||||
|
Gene ontology (GO)
Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
|
|||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||
|
Other IDs
Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
|
|||||||
|
|||||||
|
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
|
||||||||||
| 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 |
|
||||||||||
| Sequence length | 219 | ||||||||||
| Interactions | View interactions | ||||||||||
|
Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
|
||||||||
|
||||||||
|
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)
|
|||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||
|
|||||||||||||||||||||||||||||||||||||||||||