CEBPE Gene (Protein Coding)

CCAAT Enhancer Binding Protein Epsilon

GC14M023117
GIFtS:
43
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 ... See more...

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
  • CCAAT/Enhancer-Binding Protein Epsilon 3 4
  • C/EBP Epsilon 3 4
  • CCAAT/Enhancer Binding Protein Epsilon 2
  • 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 Endometrial cancer and Transcriptional misregulation in 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 CEBPA.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CEBPE Gene

Genomics for CEBPE Gene

GeneHancer (GH) Regulatory Elements for CEBPE Gene

Promoters and enhancers for CEBPE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CEBPE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CEBPE gene promoter:
  • AP-1
  • COMP1
  • GATA-3
  • GR
  • GR-alpha
  • Ik-2
  • STAT1
  • STAT1alpha
  • STAT1beta

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)
Size:
2,313 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 Structure • Gene Density

RefSeq DNA sequence for CEBPE Gene

Proteins for CEBPE Gene

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  • 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

Protein Expression for CEBPE Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CEBPE Gene

Other Protein References for CEBPE Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CEBPE

No data available for DME Specific Peptides for CEBPE Gene

Domains & Families for CEBPE Gene

Gene Families for CEBPE Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for CEBPE Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CEBPE Gene

GenScript: Design optimal peptide antigens:
  • CCAAT/enhancer-binding protein epsilon (CEBPE_HUMAN)

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

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CEBPE Gene

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).
GENATLAS Biochemistry:
CCAAT enhancer binding protein epsilon,expressed in peripheral blood mononuclear cells and in ovaries

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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 10233885
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity 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

CRISPR Products

miRNA for CEBPE Gene

miRTarBase miRNAs that target CEBPE

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEBPE

Clone 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

Nucleus.

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)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CEBPE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 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

SIGNOR curated interactions for CEBPE Gene

Activates:

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:0006909 phagocytosis IEA --
GO:0006952 defense response TAS 8661101
GO:0010628 positive regulation of gene expression IEA --
GO:0030099 myeloid cell differentiation IEA --
genes like me logo Genes that share ontologies with CEBPE: view

Drugs & Compounds for CEBPE Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for CEBPE Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CEBPE Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CEBPE

Clone 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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CEBPE Gene

mRNA expression in normal human tissues for CEBPE Gene
mRNA expression by BioGPS for CEBPE GenemRNA expression by GTEx 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, 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
Regions:
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with CEBPE: view

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 32
  • 99.64 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia CEBPE 33 32
  • 91.58 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia CEBPE 33 32
  • 90.15 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cebpe 32
  • 88.85 (n)
mouse
(Mus musculus)
 Mammalia Cebpe 17 33 32
  • 88.61 (n)
oppossum
(Monodelphis domestica)
 Mammalia CEBPE 33
  • 87 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CEBPE 33
  • 79 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia CEBPE 33
  • 57 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia cebpe 32
  • 60.03 (n)
zebrafish
(Danio rerio)
 Actinopterygii cebp1 33
  • 30 (a)
 ManyToMany
CU633479.4 33
  • 30 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea cebp-2 33
  • 27 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CEBPE: view image

Paralogs for CEBPE Gene

Paralogs for CEBPE Gene

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

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

Variants for CEBPE Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CEBPE Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs114913626 benign, Specific granule deficiency 23,118,858(-) G/A coding_sequence_variant, synonymous_variant
rs1273577069 uncertain-significance, Specific granule deficiency 23,118,596(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs141903485 benign, Specific granule deficiency 23,118,629(-) G/T coding_sequence_variant, missense_variant
rs146580935 uncertain-significance, Specific granule deficiency 23,118,887(-) G/A coding_sequence_variant, missense_variant
rs149752323 likely-benign, Specific granule deficiency 23,118,789(-) C/T coding_sequence_variant, synonymous_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

SNP Genotyping and Copy Number Assay Products

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

(5) 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 23 56
  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 23 56
  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 56
  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 43 56
  5. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. (PMID: 19684604) Papaemmanuil E … Houlston RS (Nature genetics 2009) 3 43 56

ExternalLinks

View latest publications for CEBPE gene in Mastermind

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