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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CEBPE Gene

protein-coding   GIFtS: 59
GCID: GC14M023586

CCAAT/Enhancer Binding Protein (C/EBP), Epsilon

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
CCAAT/Enhancer Binding Protein (C/EBP), Epsilon1 2
C/EBP Epsilon2 3
CRP12 5
C/EBP-epsilon2
CCAAT/Enhancer-Binding Protein Epsilon2

External Ids:    HGNC: 18361   Entrez Gene: 10532   Ensembl: ENSG000000920677   OMIM: 6007495   UniProtKB: Q157443   

Export aliases for CEBPE gene to outside databases

Previous GC identifers: GC14M020959 GC14M017373 GC14M021576 GC14M022656 GC14M003703


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 (C/EBP), epsilon) is a protein-coding gene. Diseases associated with CEBPE include neutrophil-specific granule deficiency, and severe congenital neutropenia. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is CEBPA.

UniProtKB/Swiss-Prot: CEBPE_HUMAN, Q15744
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 Wiki entry for CEBPE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.2  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CEBPE gene promoter:
         GR   STAT1   GATA-3   AP-1   STAT1beta   STAT1alpha   Ik-2   COMP1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEBPE promoter sequence
   Search SABiosciences Chromatin IP Primers for CEBPE

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CEBPE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

CEBPE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CEBPE gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M023586:  view genomic region     (about GC identifiers)

Start:
23,586,513 bp from pter      End:
23,588,825 bp from pter
Size:
2,313 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CEBPE_HUMAN, Q15744 (See protein sequence)
Recommended Name: CCAAT/enhancer-binding protein epsilon  
Size: 281 amino acids; 30603 Da
Subunit: Binds DNA as a dimer and can form stable heterodimers with C/EBP delta
Subcellular location: Nucleus
Sequence caution: Sequence=AAC51130.1; Type=Frameshift; Positions=4;
1 PDB 3D structure from and Proteopedia for CEBPE:
3T92 (3D)    
Secondary accessions: Q15745 Q8IYI2 Q99803

Explore the universe of human proteins at neXtProt for CEBPE: NX_Q15744

Explore proteomics data for CEBPE at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q15744

  • CEBPE Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CEBPE Protein Expression
    REFSEQ proteins: NP_001796.2  
    ENSEMBL proteins: 
     ENSP00000206513  

    Human Recombinant Protein Products for CEBPE: 
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    Novus Biologicals CEBPE Protein
    Novus Biologicals CEBPE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    CEBPE for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for CEBPE 

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    bZIP: basic leucine zipper proteins

    2 InterPro protein domains:
     IPR004827 bZIP
     IPR016468 CCAAT/enhancer-binding

    Graphical View of Domain Structure for InterPro Entry Q15744

    ProtoNet protein and cluster: Q15744

    UniProtKB/Swiss-Prot: CEBPE_HUMAN, Q15744
    Similarity: Belongs to the bZIP family. C/EBP subfamily
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    CEBPE for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CEBPE_HUMAN, Q15744
    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

         Genatlas biochemistry entry for CEBPE:
    CCAAT enhancer binding protein epsilon,expressed in peripheral blood mononuclear cells and in ovaries

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0042803protein homodimerization activity IEA--
    GO:0043565sequence-specific DNA binding IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    CEBPE for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cebpe):
     cellular  digestive/alimentary  hematopoietic system  immune system  integument 
     mortality/aging  respiratory system  skeleton  vision/eye 

    CEBPE for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cebpetm1Kgx for CEBPE

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CEBPE 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CEBPE

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CEBPE 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CEBPE 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CEBPE
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CEBPE:
    hsa-miR-301b hsa-miR-454 hsa-miR-4295 hsa-miR-130a hsa-miR-301a hsa-miR-130b hsa-miR-3666 hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidCEBPE 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CEBPE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CEBPE

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of CEBPE

    Clone
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    Sirion Biotech Customized lentivirus for stable overexpression of CEBPE 
                         Customized lentivirus expression plasmids for stable overexpression of CEBPE 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEBPE


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CEBPE About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for CEBPE):
        Transcriptional misregulation in cancer


    CEBPE for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CEBPE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/44 Interacting proteins for CEBPE (Q157442, 3 ENSP000002065134) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DOCK1Q141852, 3MINT-7231963 I2D: score=1 
    CEBPDP497163, ENSP000003861654I2D: score=4 STRING: ENSP00000386165
    MLLT6P551983, ENSP000003164264I2D: score=3 STRING: ENSP00000316426
    PIAS1O759253, ENSP000002496364I2D: score=3 STRING: ENSP00000249636
    SPI1P179473, ENSP000002271634I2D: score=3 STRING: ENSP00000227163
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0006909phagocytosis IEA--
    GO:0006952defense response TAS8661101
    GO:0030099myeloid cell differentiation ----

    CEBPE for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CEBPE

    Search CenterWatch for drugs/clinical trials and news about CEBPE

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CEBPE gene: 
    NM_001805.3  

    Unigene Cluster for CEBPE:

    CCAAT/enhancer binding protein (C/EBP), epsilon
    Hs.558308  [show with all ESTs]
    Unigene Representative Sequence: NM_001805
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000206513(uc001wiv.2)
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CEBPE
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate CEBPE:
    hsa-miR-301b hsa-miR-454 hsa-miR-4295 hsa-miR-130a hsa-miR-301a hsa-miR-130b hsa-miR-3666 hsa-miR-3157-5p
    SwitchGear 3'UTR luciferase reporter plasmidCEBPE 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for CEBPE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CEBPE
    Clone
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    OriGene clones in human, mouse for CEBPE (see all 6)
    OriGene ORF clones in mouse, rat for CEBPE
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CEBPE (NM_001805)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CEBPE
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEBPE
    Sirion Biotech Customized lentivirus for stable overexpression of CEBPE 
                         Customized lentivirus expression plasmids for stable overexpression of CEBPE 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for CEBPE
    OriGene qSTAR qPCR primer pairs in human, mouse for CEBPE
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CEBPE
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CEBPE
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CEBPE

    Additional mRNA sequence: 

    BC035797.1 U48866.1 

    2 DOTS entries:

    DT.105398  DT.100785526 

    10 AceView cDNA sequences:

    BG387972 NM_001805 CR594219 BC035797 BM907144 BU617231 CA427525 BX326176 
    BX346756 BX346755 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CEBPE expression in normal human tissues (normalized intensities)      CEBPE embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATAAATGGC
    CEBPE Expression
    About this image


    CEBPE expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 10 entries
             Endochondral Osteoblasts Autopod Periosteum
             bone marrow   
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             bone marrow   

    See CEBPE Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CEBPE

    SOURCE GeneReport for Unigene cluster: Hs.558308

    UniProtKB/Swiss-Prot: CEBPE_HUMAN, Q15744
    Tissue specificity: Strongest expression occurs in promyelocyte and late-myeloblast-like cell lines

        SABiosciences Expression via Pathway-Focused PCR Array including CEBPE: 
              Hematopoiesis in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CEBPE

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CEBPE gene from 12 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia CEBPE1 CCAAT/enhancer binding protein (C/EBP), epsilon 99.64(n)
    99.64(a)
      743538  XM_001161080.2  XP_001161080.2 
    mouse
    (Mus musculus)
    Mammalia Cebpe1 , 5 CCAAT/enhancer binding protein (C/EBP), epsilon1, 5 88.61(n)1
    93.24(a)1
      14 (27.90 cM)5
    1107941  NM_207131.11  NP_997014.11 
     547103635 
    rat
    (Rattus norvegicus)
    Mammalia Cebpe1 CCAAT/enhancer binding protein (C/EBP), epsilon 88.85(n)
    93.59(a)
      25410  NM_017095.1  NP_058791.1 
    cow
    (Bos taurus)
    Mammalia CEBPE1 CCAAT/enhancer binding protein (C/EBP), epsilon 90.15(n)
    95.37(a)
      534346  NM_001192808.1  NP_001179737.1 
    dog
    (Canis familiaris)
    Mammalia CEBPE1 CCAAT/enhancer binding protein (C/EBP), epsilon 91.58(n)
    96.44(a)
      490607  XM_547729.3  XP_547729.1 
    oppossum
    (Monodelphis domestica)
    Mammalia CEBPE6
    CCAAT/enhancer binding protein (C/EBP), epsilon
    87(a)
    1 ↔ 1
    1(172418661-172421043)
    platypus
    (Ornithorhynchus anatinus)
    Mammalia CEBPE6
    CCAAT/enhancer binding protein (C/EBP), epsilon
    77(a)
    1 ↔ 1
    Contig1530(119677-120784)
    lizard
    (Anolis carolinensis)
    Reptilia CEBPE6
    Uncharacterized protein
    58(a)
    1 ↔ 1
    GL343776.1(56712-62519)
    zebrafish
    (Danio rerio)
    Actinopterygii cebp16
    CEBPE (2 of 2)6
    CCAAT/enhancer binding protein (C/EBP), epsilon
    29(a)
    29(a)
    1 ↔ many
    1 ↔ many
    24(42403985-42411783)
    24(42563352-42568541)
    sea squirt
    (Ciona savignyi)
    Ascidiacea --
    Uncharacterized protein
    22(a)
    1 → many
    reftig_107(171951-172895)
    fruit fly
    (Drosophila melanogaster)
    Insecta slbo6
    slow border cells
    9(a)
    1 → many
    2R(20219045-20221829)
    worm
    (Caenorhabditis elegans)
    Secernentea cebp-26
    Protein CEBP-2
    28(a)
    1 → many
    I(6253019-6253583)
            Species with no ortholog for CEBPE

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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CEBPE gene
    CEBPA2  CEBPD2  CEBPB2  CEBPG2  
    2 SIMAP similar genes for CEBPE using alignment to 1 protein entry:     CEBPE_HUMAN:
    CEBPB    CEBPA

    CEBPE for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/141 SNPs in CEBPE are shown (see all 141)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs80154781,2
    C,F,A,H--4583047(+) TGGAAA/CTGGAG 1 -- ds500142Minor allele frequency- N:0.00EA NA NS WA CSA 3772
    rs1903030951,2
    --4583115(+) TTCCCA/GTGGTC 1 -- ds50010--------
    rs740369151,2
    C,F--4583213(+) GTGCCG/AGGATC 1 -- ds50013Minor allele frequency- A:0.11WA CSA 121
    rs1387866791,2
    C--4583275(+) TCCTG-/TGGGGG 1 -- ds50010--------
    rs1916802891,2
    --4583276(+) CCTGTC/GGGGGG 1 -- ds50010--------
    rs770024211,2
    F--4583283(+) GGGGCG/AGGGAT 1 -- ds50011Minor allele frequency- A:0.06WA 118
    rs128892131,2
    C,H--4583452(+) ACCTAG/ACCACA 1 -- ds50015Minor allele frequency- A:0.00NS EA NA 422
    rs1430306631,2
    --4583597(+) CCTGCC/TCTCTT 1 -- ut310--------
    rs1178000451,2
    C--4583685(+) TAGGCC/TGTGCC 1 -- ut311Minor allele frequency- T:0.01EA 120
    rs1124206131,2
    C--4583710(+) CCACAG/ATCCAC 1 -- ut311Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for CEBPE (23586513 - 23588825 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CEBPE:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv901492CNV Loss21882294


    Human Gene Mutation Database (HGMD): CEBPE

    Locus Specific Mutation Databases (LSDB): CEBPE
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CEBPE
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600749   
    OMIM disorders: 245480  
    9 diseases for CEBPE:    About MalaCards
    neutrophil-specific granule deficiency    severe congenital neutropenia    neutropenia    acute lymphoblastic leukemia
    acute myeloid leukemia    lymphoblastic leukemia    retinoblastoma    myeloid leukemia
    leukemia

    1 disease from the University of Copenhagen DISEASES database for CEBPE:
    Leukemia

    CEBPE for disorders           About GeneDecksing

    Genetic Association Database (GAD): CEBPE
    Human Genome Epidemiology (HuGE) Navigator: CEBPE (2 documents)

    Export disorders for CEBPE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CEBPE gene, integrated from 9 sources (see all 64):
    (articles sorted by number of sources associating them with CEBPE)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8661101)1, 2, 3, 9 Antonson P.... Xanthopoulos K.G. (1996)
    2. Cloning of the novel human myeloid-cell-specific C/EBP-epsilon transcription factor. (PubMed id 9032264)1, 2, 9 Chumakov A.M....Koeffler H.P. (1997)
    3. Verification of the susceptibility loci on 7p12.2, 10 q21.2, and 14q11.2 in precursor B-cell acute lymphoblastic leukemia of childhoo d. (PubMed id 20042726)1, 4 Prasad R.B....Hemminki K. (2010)
    4. Loci on 7p12.2, 10q21.2 and 14q11.2 are associated wi th risk of childhood acute lymphoblastic leukemia. (PubMed id 19684604)1, 4 Papaemmanuil E....Houlston R.S. (2009)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    6. 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. (PubMed id 17688422)1, 9 Hattori H....Nakagawa Y. (2007)
    7. Human C/EBP-epsilon activator and repressor isoforms differentially reprogram myeloid lineage commitment and differentiation. (PubMed id 18832658)1, 9 Bedi R....Ackerman S.J. (2009)
    8. C/EBPalpha and C/EBPvarepsilon induce the monocytic differentiation of myelomonocytic cells with the MLL-chimeric fusion gene. (PubMed id 18776924)1, 9 Matsushita H....Miyachi H. (2008)
    9. Novel susceptibility variants at 10p12.31-12.2 for chi ldhood acute lymphoblastic leukemia in ethnically diverse populations. (PubMed id 23512250)1 Xu H....Yang J.J. (2013)
    10. Networks of bZIP protein-protein interactions diversif ied over a billion years of evolution. (PubMed id 23661758)1 Reinke A.W....Keating A.E. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1053 HGNC: 1836 AceView: CEBPE Ensembl:ENSG00000092067 euGenes: HUgn1053
    ECgene: CEBPE Kegg: 1053 H-InvDB: CEBPE

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CEBPE Pharmacogenomics, SNPs, Pathways
    CEBPEbasehttp://bioinf.uta.fi/CEBPEbase/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CEBPE gene:
    Search GeneIP for patents involving CEBPE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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