ENSG00000092067


Homo sapiens

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)
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)
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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