Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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63924 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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CIDEC |
SynonymsGene synonyms aliases
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CIDE-3, CIDE3, FPLD5, FSP27 |
ChromosomeChromosome number
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3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3p25.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs587776968 |
C>A |
Pathogenic |
Stop gained, coding sequence variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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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.
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Associated diseases
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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 |
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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 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Acanthosis nigricans |
Acanthosis Nigricans |
rs780668 |
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Fatty liver |
Fatty Liver, Steatohepatitis |
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Pancreatitis |
Pancreatitis |
rs61734659 |
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Polycystic ovary syndrome |
Polycystic Ovary Syndrome |
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