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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 and Neutrophil-Specific Granule Deficiency. Among its related pathways are Transcriptional misregulation in cancer and Endometrial 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 CEBPA.

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

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

Regulatory Elements for CEBPE Gene

Enhancers for CEBPE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H023145 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -26.6 -26567 2 PKNOX1 ATF1 ARNT YBX1 ZNF2 TCF12 ZNF766 GATA2 ELK1 ATF7 ENSG00000259321 SLC7A8 RNF212B CEBPE ACIN1 AP1G2 SLC22A17 C14orf93 DHRS4 RNU6-1138P
GH14H023067 1.6 Ensembl ENCODE dbSUPER 10.9 +49.5 49523 5 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 PSMB11 PSMB5 C14orf119 ACIN1 C14orf93 CEBPE AJUBA HAUS4 RNF212B SLC7A8
GH14H023077 1.5 Ensembl ENCODE dbSUPER 10.6 +40.8 40841 3 PKNOX1 ATF1 ARNT ZNF766 ELK1 FOS ATF7 PAF1 REST ZNF592 CDH24 C14orf119 CEBPE C14orf93 PRMT5 RNU6-1138P SLC7A8 RNF212B
GH14H023140 1.3 FANTOM5 ENCODE dbSUPER 11.5 -22.1 -22071 2 GTF2F1 TBP MXI1 NFIB MAX BMI1 RFX5 ZNF121 ZNF316 GATA3 SLC7A8 RNF212B CEBPE ACIN1 SLC22A17 C14orf93 CMTM5 IL25 DHRS4-AS1 RNU6-1138P
GH14H023112 1.6 FANTOM5 Ensembl ENCODE 8.5 +5.6 5565 3 PKNOX1 ATF1 ARNT BRCA1 TCF12 ZNF766 GATA2 ELK1 ATF7 FOS ACIN1 LOC102724814 PRMT5 RBM23 HAUS4 C14orf93 NGDN MMP14 AP1G2 CEBPE
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

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

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:
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.

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 core promoter proximal region sequence-specific DNA binding IDA 10233885
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 10233885
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding 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

Clone Products

  • Applied Biological Materials Clones for CEBPE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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

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 from RNA polymerase II promoter 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

Clone Products

  • Applied Biological Materials Clones for CEBPE
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 Sequence Context AA Info Type
rs1001316956 -- 23,119,458(+) CCAAG(A/C)CAGGG utr-variant-5-prime
rs1001836484 -- 23,120,512(+) AGTTG(C/G)GGGGG upstream-variant-2KB
rs1002761409 -- 23,121,053(+) CCTGC(C/G)GGGCA upstream-variant-2KB
rs1003223572 -- 23,121,370(+) GCTAC(A/C)CAAGG upstream-variant-2KB
rs1004369475 -- 23,119,820(+) AGTAG(A/T)GATAG upstream-variant-2KB

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
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, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
specific granule deficiency
  • specific granule deficiency 1
neutrophil-specific granule deficiency
  • specific granule deficiency
b-cell childhood acute lymphoblastic leukemia
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
- 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 KG (Genomics 1996) 2 3 4 22 60
  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 60
  3. 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 45 60
  4. 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 45 60
  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 60

Products for CEBPE Gene

Sources for CEBPE Gene

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