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CIDEC (cell death inducing DFFA like effector c)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
63924
Gene nameGene Name - the full gene name approved by the HGNC.
Cell death inducing DFFA like effector c
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CIDEC
SynonymsGene synonyms aliases
CIDE-3, CIDE3, FPLD5, FSP27
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.3
SummarySummary 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587776968 C>A Pathogenic Stop gained, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
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.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005811 Component Lipid droplet IEA
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MEYAMKSLSLLYPKSLSRHVSVRTSVVTQQLLSEPSPKAPRARPCRVSTADRSVRKGIMA
YSLEDLLLKVRDTLMLADKPFFLVLEEDGTTVETEEYFQALAGDTVFMVLQKGQKWQ
PPS
EQGTRHPLSLSHKPAKKIDVARVTFDLYKLNPQDFIGCLNVKATFYDTYSLSYDLHCCGA
KRIMKEAFRWALFSMQATGHVLLGTSCYLQQLLDATEEGQPPKGKASSLIPTCLKILQ
Sequence length 238
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  Regulation of lipolysis in adipocytes   Lipid particle organization
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Dermatitis Dermatitis, Allergic Contact rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 17374397
Insulin-resistant diabetes mellitus Insulin-resistant diabetes mellitus rs121913142
Lipodystrophy Lipodystrophy, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 rs553668, rs766817317 20049731
Partial lipodystrophy Familial partial lipodystrophy, Familial Partial Lipodystrophy, Type 1, Familial Partial Lipodystrophy, Type 2, Familial Partial Lipodystrophy, Type 3, CIDEC-related familial partial lipodystrophy rs121909244, rs72551362, rs72551363, rs72551364, rs121909245, rs121909246, rs28928900, rs57520892, rs60864230, rs57920071, rs61282106, rs61214927, rs1567075176, rs1567075667, rs587776968, rs267607555, rs59981161, rs57629361, rs56793579, rs57077886, rs1553643326, rs148195788, rs1553647989, rs1378972597, rs1553650477, rs1553653993, rs770557781
Unknown
Disease name Disease term dbSNP ID References
Acanthosis nigricans Acanthosis Nigricans rs780668
Fatty liver Fatty Liver, Steatohepatitis
Pancreatitis Pancreatitis rs61734659
Polycystic ovary syndrome Polycystic Ovary Syndrome

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