ENSG00000187288


Homo sapiens

Features
Gene ID: ENSG00000187288
  
Biological name :CIDEC
  
Synonyms : cell death inducing DFFA like effector c / CIDEC / Q96AQ7
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: -1
Band: p25.3
Gene start: 9866711
Gene end: 9880254
  
Corresponding Affymetrix probe sets: 219398_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000400649
Ensembl peptide - ENSP00000392975
Ensembl peptide - ENSP00000408631
Ensembl peptide - ENSP00000483641
Ensembl peptide - ENSP00000411356
Ensembl peptide - ENSP00000338642
Ensembl peptide - ENSP00000373328
NCBI entrez gene - 63924     See in Manteia.
OMIM - 612120
RefSeq - NM_001199552
RefSeq - NM_001199551
RefSeq - NM_001199623
RefSeq - NM_001321142
RefSeq - NM_001321143
RefSeq - NM_001321144
RefSeq - NM_022094
RefSeq Peptide - NP_001308073
RefSeq Peptide - NP_071377
RefSeq Peptide - NP_001186481
RefSeq Peptide - NP_001186552
RefSeq Peptide - NP_001308071
RefSeq Peptide - NP_001308072
RefSeq Peptide - NP_001186480
swissprot - Q96AQ7
swissprot - A0A0A0MRY9
swissprot - A0A024R2F7
swissprot - A0A0C4DG75
Ensembl - ENSG00000187288
  
Related genetic diseases (OMIM): 615238 - ?Lipodystrophy, familial partial, type 5, 615238
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cidecENSDARG00000059651Danio rerio
 CIDECENSGALG00000026945Gallus gallus
 CidecENSMUSG00000030278Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CIDEA / O60543 / cell death-inducing DFFA-like effector aENSG0000017619438
CIDEB / Q9UHD4 / cell death-inducing DFFA-like effector bENSG0000013630535


Protein motifs (from Interpro)
Interpro ID Name
 IPR003508  CIDE-N domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006915 apoptotic process IDA
 biological_processGO:0034389 lipid particle organization IMP
 biological_processGO:0042981 regulation of apoptotic process IBA
 biological_processGO:0097194 execution phase of apoptosis IDA
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005811 lipid droplet IBA
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
Lipid particle organization


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000147 polycystic ovaries 
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 HP:0000831 Insulin-resistant diabetes mellitus 
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 HP:0000876 Oligomenorrhea 
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 HP:0000956 Acanthosis nigricans 
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 HP:0001397 Hepatic steatosis 
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 HP:0001733 Pancreatitis 
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 HP:0002155 Hypertriglyceridemia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0003292 Decreased serum leptin 
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 HP:0003635 Loss of subcutaneous adipose tissue in limbs 
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 HP:0008981 Muscular hypertrophy, esp calf muscles "Muscle hypertrophy primarily affecting the calf muscles." [HPO:curators]
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 HP:0009017 Loss of subcutaneous adipose tissue from gluteal region 
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 HP:0009042 Marked muscular hypertrophy "Severe hypertrophy (increase in size) of muscle cells." [HPO:curators]
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 HP:0009125 Lipodystrophy "Degenerative changes of the fat tissue." [HPO:curators]
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 HP:0030685 Decreased adiponectin level "A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000176194 CIDEA / O60543 / cell death-inducing DFFA-like effector a  / complex






 

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