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Aliases for CEBPE Gene

Aliases for CEBPE Gene

  • CCAAT/Enhancer Binding Protein Epsilon 2 3 5
  • CCAAT/Enhancer Binding Protein (C/EBP), Epsilon 2 3
  • C/EBP Epsilon 3 4
  • CCAAT/Enhancer-Binding Protein Epsilon 3
  • 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 1 and Neutrophil-Specific Granule Deficiency. Among its related pathways are Transcriptional misregulation in cancer and Endometrial cancer. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is CEBPB.

UniProtKB/Swiss-Prot for CEBPE Gene

  • Transcriptional activator (PubMed:26019275). 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. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588).

Gene Wiki entry for CEBPE Gene

Additional gene information for CEBPE Gene

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

Genomics for CEBPE Gene

GeneHancer (GH) Regulatory Elements for CEBPE Gene

Promoters and enhancers for CEBPE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14I023117 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 0.0 -19 4.8 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A ZNF2 IRF4 SLC30A9 CBX5 CEBPE C14orf119 RNU6-1138P
GH14I023067 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.9 +49.5 49523 5.9 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ACIN1 C14orf93 NGDN LOC102724814 RBM23 HAUS4 PRMT5 PSMB11 PSMB5 C14orf119
GH14I023145 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -26.6 -26566 2.8 PKNOX1 SMAD1 ATF1 ARNT YBX1 ZNF2 NCOA2 TCF12 ZNF766 GATA2 ACIN1 C14orf93 ENSG00000259321 RBM23 LOC102724814 NGDN RNF212B SLC7A8 HAUS4 CEBPE
GH14I023140 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 11.6 -22.1 -22071 2.9 MXI1 USF1 NFIB MAX BMI1 RFX5 ZNF507 ZNF121 ZNF335 GATA3 SLC7A8 RNF212B CEBPE ACIN1 SLC22A17 C14orf93 CMTM5 IL25 DHRS4-AS1 RNU6-1138P
GH14I023077 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.6 +40.8 40840 3.8 PKNOX1 ATF1 ARNT ZNF766 FOS ATF7 PAF1 REST ZNF592 MEF2D CDH24 C14orf119 CEBPE C14orf93 PRMT5 RNU6-1138P SLC7A8 RNF212B ACIN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CEBPE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CEBPE gene promoter:

Genomic Locations for CEBPE Gene

Genomic Locations for CEBPE Gene
chr14:23,117,304-23,119,985
(GRCh38/hg38)
Size:
2,682 bases
Orientation:
Minus strand
chr14:23,586,513-23,588,825
(GRCh37/hg19)

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 homodimer and as a heterodimer (PubMed:26019275). Can form stable heterodimers with CEBPA, CEBPB and CEBPD (By similarity). Interacts with GATA1 AND SPI1 (PubMed:26019275). Interacts with SMARCD2 (PubMed:28369036).
    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

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

Gene 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 :
  • Belongs to the bZIP family. C/EBP subfamily.
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:
Transcriptional activator (PubMed:26019275). 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. Required for the promyelocyte-myelocyte transition in myeloid differentiation (PubMed:10359588).

Phenotypes From GWAS Catalog for CEBPE Gene

Gene Ontology (GO) - Molecular Function for CEBPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 10233885
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA 10233885
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
GO:0005515 protein binding IPI 26019275
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

CRISPR Products

miRNA for CEBPE Gene

miRTarBase miRNAs that target CEBPE

Inhibitory RNA Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CEBPE gene
Compartment Confidence
nucleus 5
cytosol 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CEBPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 11313242
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with CEBPE: view

Pathways & Interactions for CEBPE Gene

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

Pathways by source for CEBPE Gene

Gene Ontology (GO) - Biological Process for CEBPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0006909 phagocytosis IEA --
GO:0006952 defense response TAS 8661101
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

(1) 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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CEBPE Gene



NURSA nuclear receptor signaling pathways regulating expression of CEBPE Gene:

CEBPE

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.

Evidence on tissue expression from TISSUES for CEBPE Gene

  • Nervous system(4)
  • Bone marrow(3.5)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CEBPE Gene

Germ Layers:
  • mesoderm
Systems:
  • immune
Organs:
General:
  • blood
  • white blood cell
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
chimpanzee
(Pan troglodytes)
Mammalia CEBPE 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia CEBPE 33 34
  • 91.58 (n)
cow
(Bos Taurus)
Mammalia CEBPE 33 34
  • 90.15 (n)
rat
(Rattus norvegicus)
Mammalia Cebpe 33
  • 88.85 (n)
mouse
(Mus musculus)
Mammalia Cebpe 33 16 34
  • 88.61 (n)
oppossum
(Monodelphis domestica)
Mammalia CEBPE 34
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CEBPE 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CEBPE 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cebpe 33
  • 60.03 (n)
zebrafish
(Danio rerio)
Actinopterygii cebp1 34
  • 30 (a)
ManyToMany
CU633479.4 34
  • 30 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea cebp-2 34
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToMany
Species where no ortholog for CEBPE was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs149752323 likely-benign, Specific granule deficiency 23,118,789(-) C/T coding_sequence_variant, synonymous_variant
rs55722931 benign, Specific granule deficiency 23,117,586(-) G/A coding_sequence_variant, synonymous_variant
rs372651475 uncertain-significance, not provided 23,117,653(-) C/G/T coding_sequence_variant, missense_variant
rs1001316956 -- 23,119,458(-) C/A 5_prime_UTR_variant
rs1001836484 -- 23,120,512(-) G/C upstream_transcript_variant

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)

Additional Variant Information for CEBPE Gene

Human Gene Mutation Database (HGMD)
CEBPE
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CEBPE

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CEBPE Gene

Disorders for CEBPE Gene

MalaCards: The human disease database

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

- elite association - COSMIC cancer census association via MalaCards
Search CEBPE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CEBPE_HUMAN
  • Specific granule deficiency 1 (SGD1) [MIM:245480]: An autosomal recessive disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. Neutrophils of affected individuals lack lactoferrin and show abnormal nuclear segmentation, bilobed nuclei, low alkaline phosphatase, and increased number of neutrophil mitochondria and ribosomes. {ECO:0000269 PubMed:10359588, ECO:0000269 PubMed:11313242, ECO:0000269 PubMed:26019275}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CEBPE

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

No data available for 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 KG (Genomics 1996) 2 3 4 22 58
  2. Cloning of the novel human myeloid-cell-specific C/EBP-epsilon transcription factor. (PMID: 9032264) Chumakov AM … Koeffler HP (Molecular and cellular biology 1997) 3 4 22 58
  3. A Novel In-Frame Deletion in the Leucine Zipper Domain of C/EBPε Leads to Neutrophil-Specific Granule Deficiency. (PMID: 26019275) Wada T … Yachie A (Journal of immunology (Baltimore, Md. : 1950) 2015) 3 4 58
  4. Verification of the susceptibility loci on 7p12.2, 10q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhood. (PMID: 20042726) Prasad RB … Hemminki K (Blood 2010) 3 44 58
  5. Human C/EBP-epsilon activator and repressor isoforms differentially reprogram myeloid lineage commitment and differentiation. (PMID: 18832658) Bedi R … Ackerman SJ (Blood 2009) 3 22 58

Products for CEBPE Gene

Sources for CEBPE Gene

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