ENSG00000092067


Homo sapiens
CEBPErnapolymeraseiibindingactivityproteindnaregulationresponsedifferentiationsequence-specificdna-templateddefenseproximalpromoterfactorneutrophilbasic-leucinezipperdomainccaatenhancer-bindingchordatesphagocytosisgeneexpressionmyeloidcellmacrophage

Features
Gene ID: ENSG00000092067
  
Biological name :CEBPE
  
Synonyms : CCAAT/enhancer binding protein epsilon / CEBPE / Q15744
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: -1
Band: q11.2
Gene start: 23117304
Gene end: 23119616
  
Corresponding Affymetrix probe sets: 214523_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000206513
NCBI entrez gene - 1053     See in Manteia.
OMIM - 600749
RefSeq - NM_001805
RefSeq Peptide - NP_001796
swissprot - Q15744
Ensembl - ENSG00000092067
  
Related genetic diseases (OMIM): 245480 - Specific granule deficiency, 245480

This gene has been taged as a transcription factor by TFT
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
 CebpeENSMUSG00000052435Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CEBPA / P49715 / CCAAT/enhancer binding protein alphaENSG0000024584840
CEBPB / P17676 / CCAAT/enhancer binding protein betaENSG0000017221635
CEBPD / P49716 / CCAAT/enhancer binding protein deltaENSG0000022186933
CEBPG / P53567 / CCAAT/enhancer binding protein gammaENSG0000015387916


Protein motifs (from Interpro)
Interpro ID Name
 IPR004827  Basic-leucine zipper domain
 IPR016468  CCAAT/enhancer-binding protein, chordates


Gene Ontology (GO)
nitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen compound metabolic processbiosynthetic processcellular metabolic processprimary metabolic processorganic substance metabolic processestablishment of localizationresponse to stressanatomical structure developmentcellular developmental processcytokine productionresponse to external stimulusresponse to biotic stimulusresponse to chemicalcellular response to stimulusnitrogen cnitrogen compound metabolic processbiosynthetbiosynthetic processcellular mcellular metabolic processprimary meprimary metabolic processorganic suorganic substance metabolic processestablishmestablishment of localizationresponse tresponse to stressanatomicalanatomical structure developmentcellular dcellular developmental processcytokine pcytokine productionresponse tresponse to external stimulusresponse tresponse to biotic stimulusresponse tresponse to chemicalcellular rcellular response to stimulus
organic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor activityprotein bindingorganic cyclic compound bindingorganic cyclic compound bindingheterocyclic compound bindingheterocyclic compound bindingDNA-binding transcription factor acDNA-binding transcription factor activityprotein bindingprotein binding
cellorganellemembrane-enclosed lumencellorganellemembrane-enclosed lumencellorganellemembrane-enclosed lumencellorganellemembrane-enclosed lumencellorganellemembrane-enclosed lumencellorganellemembrane-enclosed lumencellorganellemembrane-enclosed lumencellorganellemembrane-enclosed lumencellorganellemembrane-enclosed lumencellorganellemembrane-enclosed lumencellcellorganelleorganellemembrane-enclosed lumenmembrane-enclosed lumen
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0006909 phagocytosis IEA
 biological_processGO:0006952 defense response TAS
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0030099 myeloid cell differentiation IEA
 biological_processGO:0030225 macrophage differentiation IEA
 biological_processGO:0030851 granulocyte differentiation IMP
 biological_processGO:0042089 cytokine biosynthetic process IEA
 biological_processGO:0042742 defense response to bacterium IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
Autosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceImmunological abnormalityHematological abnormalityAutosomal recessive inheritanceAutosomal recessive inheritanceImmunological abnormalityImmunological abnormalityHematological abnormalityHematological abnormality
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:0002719 Recurrent infections 
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 HP:0011447 Hyposegmentation of neutrophil nuclei "Hyposegmented (hypolobulated) or bilobed neutrophil nuclei." [DDD:probinson]
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 HP:0012551 Absent neutrophil specific granules "Lack of specific granules in neutrophils." [HPO:probinson, pmid:6155073]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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