CIDEC (cell death inducing DFFA like effector c)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63924
Gene name Gene Name - the full gene name approved by the HGNC.
Cell death inducing DFFA like effector c
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CIDEC
Synonyms (NCBI Gene) Gene synonyms aliases
CIDE-3, CIDE3, FPLD5, FSP27
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs587776968 C>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(47)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(28)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612120 24229 ENSG00000187288
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Regulation of lipolysis in adipocytes   Lipid particle organization
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Partial Lipodystrophy cidec-related familial partial lipodystrophy rs587776968 N/A
Show/Hide Text Mining Associations (19)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 31292488
Carcinogenesis Associate 31288815
Carcinoma Renal Cell Stimulate 23475172
Inflammation Associate 33493135
Leiomyoma Associate 31288815
Macular Degeneration Associate 37079518
Metabolic Syndrome Associate 28415694
Myotonic Dystrophy Inhibit 36931749
Neoplasms Inhibit 20945533
Neoplasms Associate 28038473