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Aliases for CEBPE Gene

Aliases for CEBPE Gene

  • CCAAT/Enhancer Binding Protein Epsilon 2 3
  • CCAAT/Enhancer Binding Protein (C/EBP), Epsilon 2 3 5
  • C/EBP Epsilon 3 4
  • C/EBP-Epsilon 3
  • CRP1 3

External Ids for CEBPE Gene

Previous GeneCards Identifiers for CEBPE Gene

  • GC14M020959
  • GC14M017373
  • GC14M021576
  • GC14M022656
  • GC14M023586
  • GC14M003703

Summaries for CEBPE Gene

Entrez Gene Summary for CEBPE Gene

  • The protein encoded by this gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for CEBPE Gene

CEBPE (CCAAT/Enhancer Binding Protein Epsilon) is a Protein Coding gene. Diseases associated with CEBPE include Specific Granule Deficiency and Neutrophil-Specific Granule Deficiency. Among its related pathways are Transcriptional misregulation in cancer. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is CEBPG.

UniProtKB/Swiss-Prot for CEBPE Gene

  • C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers.

Gene Wiki entry for CEBPE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CEBPE Gene

Genomics for CEBPE Gene

Regulatory Elements for CEBPE Gene

Enhancers for CEBPE Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CEBPE on UCSC Golden Path with GeneCards custom track

Promoters for CEBPE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CEBPE on UCSC Golden Path with GeneCards custom track

Genomic Location for CEBPE Gene

Chromosome:
14
Start:
23,117,304 bp from pter
End:
23,119,985 bp from pter
Size:
2,682 bases
Orientation:
Minus strand

Genomic View for CEBPE Gene

Genes around CEBPE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CEBPE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CEBPE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CEBPE Gene

Proteins for CEBPE Gene

  • Protein details for CEBPE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15744-CEBPE_HUMAN
    Recommended name:
    CCAAT/enhancer-binding protein epsilon
    Protein Accession:
    Q15744
    Secondary Accessions:
    • Q15745
    • Q8IYI2
    • Q99803

    Protein attributes for CEBPE Gene

    Size:
    281 amino acids
    Molecular mass:
    30603 Da
    Quaternary structure:
    • Binds DNA as a dimer and can form stable heterodimers with C/EBP delta.
    SequenceCaution:
    • Sequence=AAC51130.1; Type=Frameshift; Positions=4; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CEBPE Gene

neXtProt entry for CEBPE Gene

Proteomics data for CEBPE Gene at MOPED

Post-translational modifications for CEBPE Gene

Other Protein References for CEBPE Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CEBPE Gene

Domains & Families for CEBPE Gene

Protein Domains for CEBPE Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEBPE Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15744

UniProtKB/Swiss-Prot:

CEBPE_HUMAN :
  • Contains 1 bZIP (basic-leucine zipper) domain.
  • Belongs to the bZIP family. C/EBP subfamily.
Domain:
  • Contains 1 bZIP (basic-leucine zipper) domain.
Family:
  • Belongs to the bZIP family. C/EBP subfamily.
genes like me logo Genes that share domains with CEBPE: view

Function for CEBPE Gene

Molecular function for CEBPE Gene

GENATLAS Biochemistry:
CCAAT enhancer binding protein epsilon,expressed in peripheral blood mononuclear cells and in ovaries
UniProtKB/Swiss-Prot Function:
C/EBP are DNA-binding proteins that recognize two different motifs: the CCAAT homology common to many promoters and the enhanced core homology common to many enhancers.

Gene Ontology (GO) - Molecular Function for CEBPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with CEBPE: view
genes like me logo Genes that share phenotypes with CEBPE: view

Human Phenotype Ontology for CEBPE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CEBPE Gene

MGI Knock Outs for CEBPE:

Animal Model Products

miRNA for CEBPE Gene

miRTarBase miRNAs that target CEBPE

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CEBPE Gene

Localization for CEBPE Gene

Subcellular locations from UniProtKB/Swiss-Prot for CEBPE Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CEBPE Gene COMPARTMENTS Subcellular localization image for CEBPE gene
Compartment Confidence
nucleus 5
cytosol 2
lysosome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for CEBPE Gene

Pathways & Interactions for CEBPE Gene

genes like me logo Genes that share pathways with CEBPE: view

Pathways by source for CEBPE Gene

1 KEGG pathway for CEBPE Gene

Gene Ontology (GO) - Biological Process for CEBPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006952 defense response TAS 8661101
GO:0010628 positive regulation of gene expression IEA --
GO:0030099 myeloid cell differentiation IEA --
GO:0030225 macrophage differentiation IEA --
genes like me logo Genes that share ontologies with CEBPE: view

No data available for SIGNOR curated interactions for CEBPE Gene

Drugs & Compounds for CEBPE Gene

No Compound Related Data Available

Transcripts for CEBPE Gene

mRNA/cDNA for CEBPE Gene

(2) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CEBPE Gene

CCAAT/enhancer binding protein (C/EBP), epsilon:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CEBPE Gene

No ASD Table

Relevant External Links for CEBPE Gene

GeneLoc Exon Structure for
CEBPE
ECgene alternative splicing isoforms for
CEBPE

Expression for CEBPE Gene

mRNA expression in normal human tissues for CEBPE Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CEBPE Gene

This gene is overexpressed in Whole Blood (x40.1) and Spleen (x4.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CEBPE Gene



SOURCE GeneReport for Unigene cluster for CEBPE Gene Hs.558308

mRNA Expression by UniProt/SwissProt for CEBPE Gene

Q15744-CEBPE_HUMAN
Tissue specificity: Strongest expression occurs in promyelocyte and late-myeloblast-like cell lines.
genes like me logo Genes that share expression patterns with CEBPE: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners for CEBPE Gene

Orthologs for CEBPE Gene

This gene was present in the common ancestor of animals.

Orthologs for CEBPE Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CEBPE 35
  • 90.15 (n)
  • 95.37 (a)
CEBPE 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CEBPE 35
  • 91.58 (n)
  • 96.44 (a)
CEBPE 36
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cebpe 35
  • 88.61 (n)
  • 93.24 (a)
Cebpe 16
Cebpe 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CEBPE 35
  • 99.64 (n)
  • 99.64 (a)
CEBPE 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cebpe 35
  • 88.85 (n)
  • 93.59 (a)
oppossum
(Monodelphis domestica)
Mammalia CEBPE 36
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEBPE 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEBPE 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cebpe 35
  • 60.03 (n)
  • 60.16 (a)
zebrafish
(Danio rerio)
Actinopterygii cebp1 36
  • 30 (a)
ManyToMany
CU633479.4 36
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cebp-2 36
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 20 (a)
OneToMany
Species with no ortholog for CEBPE:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CEBPE Gene

ENSEMBL:
Gene Tree for CEBPE (if available)
TreeFam:
Gene Tree for CEBPE (if available)

Paralogs for CEBPE Gene

Paralogs for CEBPE Gene

(2) SIMAP similar genes for CEBPE Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CEBPE: view

Variants for CEBPE Gene

Sequence variations from dbSNP and Humsavar for CEBPE Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1474920 -- 23,118,346(-) TTGAT(A/C)TCAGG intron-variant
rs7149298 -- 23,120,513(+) GTTGG(C/G)GGGGG upstream-variant-2KB
rs3759608 -- 23,121,070(+) AGGAG(A/G)AAGAG upstream-variant-2KB
rs7155790 -- 23,120,377(+) TTCTT(G/T)GTTCT upstream-variant-2KB
rs8015478 -- 23,116,809(+) TGGAA(A/C)TGGAG downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for CEBPE Gene

Variant ID Type Subtype PubMed ID
nsv901492 CNV Loss 21882294

Variation tolerance for CEBPE Gene

Residual Variation Intolerance Score: 44% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CEBPE Gene

Human Gene Mutation Database (HGMD)
CEBPE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CEBPE Gene

Disorders for CEBPE Gene

MalaCards: The human disease database

(6) MalaCards diseases for CEBPE Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
specific granule deficiency
neutrophil-specific granule deficiency
  • specific granule deficiency
severe congenital neutropenia
  • kostmann disease
pelger-huet anomaly
  • ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities
precursor b-cell acute lymphoblastic leukemia
  • b-all
- elite association - COSMIC cancer census association via MalaCards
Search CEBPE in MalaCards View complete list of genes associated with diseases

Relevant External Links for CEBPE

Genetic Association Database (GAD)
CEBPE
Human Genome Epidemiology (HuGE) Navigator
CEBPE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CEBPE
genes like me logo Genes that share disorders with CEBPE: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CEBPE Gene

Publications for CEBPE Gene

  1. A novel human CCAAT/enhancer binding protein gene, C/EBPepsilon, is expressed in cells of lymphoid and myeloid lineages and is localized on chromosome 14q11.2 close to the T-cell receptor alpha/delta locus. (PMID: 8661101) Antonson P. … Xanthopoulos K.G. (Genomics 1996) 2 3 4 23 67
  2. Human C/EBP-epsilon activator and repressor isoforms differentially reprogram myeloid lineage commitment and differentiation. (PMID: 18832658) Bedi R. … Ackerman S.J. (Blood 2009) 3 23
  3. C/EBPalpha and C/EBPvarepsilon induce the monocytic differentiation of myelomonocytic cells with the MLL-chimeric fusion gene. (PMID: 18776924) Matsushita H. … Miyachi H. (Oncogene 2008) 3 23
  4. Identification of a responsible promoter region and a key transcription factor, CCAAT/enhancer-binding protein epsilon, for up-regulation of PHGPx in HL60 cells stimulated with TNF alpha. (PMID: 17688422) Hattori H. … Nakagawa Y. (Biochem. J. 2007) 3 23
  5. Cloning of the novel human myeloid-cell-specific C/EBP-epsilon transcription factor. (PMID: 9032264) Chumakov A.M. … Koeffler H.P. (Mol. Cell. Biol. 1997) 3 23

Products for CEBPE Gene

Sources for CEBPE Gene

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