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

CEBPE Gene

protein-coding   GIFtS: 54
GCID: GC14M023586

CCAAT/enhancer binding protein (C/EBP), epsilon
 Explore 10 diseases affiliated with
CEBPE via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CEBPE    

Aliases
for CEBPE gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
CCAAT/Enhancer Binding Protein (C/EBP), Epsilon1 2
CRP11 2 5
C/EBP Epsilon2 3
C/EBP-Epsilon1
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


Summaries
for CEBPE gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  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 plasmid: CEBPE 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

Proteins
for CEBPE gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Phosphorylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q15744

    • CEBPE Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001796.2  
    ENSEMBL proteins: 
     ENSP00000206513  

    Human Recombinant Protein Products: 
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    Novus Biologicals CEBPE Protein
    Novus Biologicals CEBPE Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for CEBPE gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CEBPE for domains           About GeneDecksing

    2 InterPro domains/families:
     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


    Function
    for CEBPE gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    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 plasmid: CEBPE 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CEBPE (see all 7)
    OriGene shRNA RFP: CEBPE
    OriGene siRNA: CEBPE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CEBPE

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CEBPE

    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CEBPE 

    Cell Line
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    Search LifeMap BioReagents cell lines for CEBPE

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

    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


    Animal Models:
         Mouse knock-out Cebpetm1Kgx for CEBPE
         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


    Pathways & Interactions
    for CEBPE gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006909phagocytosis IEA--
    GO:0006952defense response TAS8661101
    GO:0030099myeloid cell differentiation ----
    GO:0030225macrophage differentiation IEA--


    CEBPE for ontologies           About GeneDecksing



    Drugs & Compounds
    for CEBPE gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for CEBPE gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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
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    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 plasmid: CEBPE 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CEBPE (see all 7)
    OriGene shRNA RFP: CEBPE
    OriGene siRNA: CEBPE
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CEBPE
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, 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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    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 cDNA sequence: 

    BC035797.1 U48866.1 

    2 DOTS entries:

    DT.105398  DT.100785526 

    10 AceView cDNA sequences:

    BG387972 BC035797 CR594219 NM_001805 BM907144 BX326176 BU617231 CA427525 
    BX346756 BX346755 

    GeneLoc Exon Structure


    Expression
    for CEBPE gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATAAATGGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CEBPE expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod PeriosteumEndochondral OsteoblastsBone
    BoneCervical VertebraeEndochondral OsteoblastsBone
    BoneLumbar VertebraeEndochondral OsteoblastsBone
    BoneSacral VertebraeEndochondral OsteoblastsBone
    BoneStylopod PeriosteumEndochondral OsteoblastsBone
    BoneThoracic RibEndochondral OsteoblastsBone
    BoneThoracic VertebraeEndochondral OsteoblastsBone
    BoneZeugopod PeriosteumEndochondral OsteoblastsBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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:     
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    Orthologs
    for CEBPE gene

    (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 3/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia CEBPE6
    --
    		 --
    		 57(a)
    43(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343776.1(57173-62353)
    AAWZ02038989(1842-2498)
    zebrafish
    (Danio rerio)    		 Actinopterygii CU633479.46
    cebp16
    		 CCAAT/enhancer binding protein (C/EBP) 1
    		 31(a)
    31(a)
    		 1 ↔ many
    1 ↔ many
    		 24(42563352-42568541)
    24(42403985-42411783)
    fruit fly
    (Drosophila melanogaster)    		 Insecta slbo6
    		 slow border cells
    		 12(a)
    		 1 → many
    		 2R(20219045-20221829)


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

    Paralogs
    for CEBPE gene

    (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



    Genomic Variants
    for CEBPE gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    93/103 NCBI SNPs in CEBPE are shown (see all 103)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs740369151,2
    		C,--3703101(+) GTGCCG/AGGATC 1 -- ds50013Minor allele frequency- A:0.11WA CSA 121
    rs770024211,2
    		F,--3703171(+) GGGGCG/AGGGAT 1 -- ds50011Minor allele frequency- A:0.06WA 118
    rs128892131,2
    		C,H--3703340(+) ACCTAG/ACCACA 1 -- ds50015Minor allele frequency- A:0.00NS EA NA 422
    rs787201221,2
    		F,--3704347(+) TACACT/GTTCCC 1 -- int11Minor allele frequency- G:0.02WA 118
    rs455778391,2
    		--3704636(+) GAGCCA/GGGGCA 1 -- int10--------
    rs22850231,2
    		H--3704876(-) TACGAC/GCCCAG 2 D E mis1 ese34Minor allele frequency- G:0.00NS EA 416
    rs49814581,2
    		H--3705968(+) AAGCTC/TTACAC 1 -- us2k14Minor allele frequency- T:0.00NS EA 420
    rs80154781,2
    		C,F,A,H,--23586018(+) TGGAAA/CTGGAG 1 -- ds500142Minor allele frequency- N:0.00EA NA NS WA CSA 3772
    rs1903030951,2
    		--23586086(+) TTCCCA/GTGGTC 1 -- ds50010--------
    rs1387866791,2
    		C,--23586246(+) TCCTG-/TGGGGG 1 -- ds50010--------
    rs1916802891,2
    		--23586247(+) CCTGTC/GGGGGG 1 -- ds50010--------
    rs1430306631,2
    		--23586568(+) CCTGCC/TCTCTT 1 -- ut310--------
    rs1178000451,2
    		C,--23586656(+) TAGGCC/TGTGCC 1 -- ut311Minor allele frequency- T:0.01EA 120
    rs1124206131,2
    		C,--23586681(+) CCACAG/ATCCAC 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1494440431,2
    		C,F,--23586700(+) CTCAGC/TTGCAA 2 N S mis11Minor allele frequency- T:0.00NA 4206
    rs1437532151,2
    		F--23586714(+) CCCACG/ACCCTT 2 /G syn11Minor allele frequency- A:0.00NA 4272
    rs1999674281,2
    		--23586748(+) TCTGGC/TGGAAG 2 H R mis10--------
    rs557229311,2
    		C,F,--23586795(+) TCCACG/ACGGCT 2 /R syn13Minor allele frequency- A:0.01NA EU 5990
    rs2016095371,2
    		--23586830(+) GTACTC/TCAGCA 2 K E mis10--------
    rs2012577341,2
    		--23586941(+) TTTGTC/TCACTG 2 N D mis10--------
    rs1474535351,2
    		C,--23587046(+) AAGGCA/CCGGAG 1 -- int10--------
    rs454962951,2
    		C,F,--23587055(+) AGAGAC/TGGAGA 1 -- int11Minor allele frequency- T:0.03NA 120
    rs21448271,2
    		C,F,A,H,--23587231(-) TCAAGC/TAGAGG 1 -- int118Minor allele frequency- T:0.26EA NS NA WA 2876
    rs1842759351,2
    		--23587236(+) GCTTGA/TGACCA 1 -- int10--------
    rs14749201,2
    		C,F,A,H,--23587555(-) TTGATC/ATCAGG 1 -- int111Minor allele frequency- A:0.26NS EA NA WA 2280
    rs1167917711,2
    		F,--23587582(+) CAGGGG/ACTTTG 1 -- int11Minor allele frequency- A:0.05WA 118
    rs22396361,2
    		C,F,H,--23587658(-) CAGTCC/TTCTGT 1 -- int17Minor allele frequency- T:0.10EA NS NA 2130
    rs1419034851,2
    		C,F,--23587838(+) GGGCAG/TGTGCA 2 M L mis12Minor allele frequency- T:0.00NA EU 5071
    rs1406067681,2
    		C--23587891(+) TGTAGC/TTGCCT 2 N S mis11Minor allele frequency- T:0.00NA 4404
    rs2022205731,2
    		--23587944(+) TTCACA/CGCCAC 2 A syn10--------
    rs1149136261,2
    		C,F,--23588067(+) TAGTGG/AGGGAA 2 /P syn12Minor allele frequency- A:0.01WA NA 4308
    rs2008087331,2
    		--23588085(+) GTTCCA/GGGGCC 2 P syn10--------
    rs1465809351,2
    		C,F,--23588096(+) CTTGAG/AGCCTC 2 /L /F mis12Minor allele frequency- A:0.00NA EU 5083
    rs2016704471,2
    		--23588098(+) TGAGGC/TCTCTG 2 D G mis10--------
    rs1997343431,2
    		C,--23588112(+) TCAGGC/TGCTGG 2 A syn11Minor allele frequency- T:0.00EU 1257
    rs1413202031,2
    		C,--23588124(+) TTCACA/C/GGCAAA 3 A syn11NA 4100
    rs2007230951,2
    		C,--23588267(+) ACCCCA/GGGGCT 2 R W mis10--------
    rs785376741,2
    		C,--23588320(+) CTCGGC/TTCCCC 1 -- ut512Minor allele frequency- T:0.12CSA EA 122
    rs1882198141,2
    		C,--23588350(+) GCACCC/GCTTGG 1 -- ut510--------
    rs1810169631,2
    		--23588419(+) TTCTGA/CCCTAG 1 -- ut510--------
    rs1506303591,2
    		--23588478(+) TCCCCA/CCTCTG 1 -- ut510--------
    rs1395906731,2
    		--23588567(+) TCAGGA/GAGGGG 1 -- ut510--------
    rs1166206311,2
    		F,--23588629(+) GGCCTA/GTTCAG 1 -- ut511Minor allele frequency- G:0.08WA 118
    rs124348811,2
    		C,F,A,H,--23588642(+) GTTGGG/AGACAC 1 -- ut51 ese318Minor allele frequency- A:0.29NS EA NA CSA WA 2342
    rs2007046731,2
    		--23588682(+) GGAGA-/TGCC  
      CGAAGC    TGATG     		1 -- ut510--------
    rs22396351,2
    		C,F,A,H,--23588731(-) CCTGGG/CCTCCC 1 -- ut51 ese313Minor allele frequency- C:0.17EA NA WA CSA 1873
    rs1172800251,2
    		F,--23588751(+) ATCCTC/TGCAGA 1 -- ut511Minor allele frequency- T:0.03EA 120
    rs1497180191,2
    		--23588752(+) TCCTCA/GCAGAG 1 -- ut510--------
    rs22396341,2
    		C,F,O,H,--23588863(-) AGGGTA/TGGCAC 1 -- us2k120Minor allele frequency- N:0.00EA NA NS WA CSA 2105
    rs1494171041,2
    		C,--23588922(+) TGCTG-/CCTGGG 1 -- us2k10--------
    rs22396331,2
    		C,F,O,A,H,--23589057(-) GCTCGC/TGTGTA 1 -- us2k130Minor allele frequency- T:0.38EA NA NS WA CSA 4338
    rs22396321,2
    		C,F,A,H,--23589127(-) AACATG/TTGGGC 1 -- us2k123Minor allele frequency- T:0.43NS EA NA WA CSA 2349
    rs22396311,2
    		C,F,A,H,--23589130(-) ACTAAC/TATGTG 1 -- us2k110Minor allele frequency- T:0.46NA WA EA 376
    rs613839661,2
    		--23589229(+) TGCACC/TGCAGG 1 -- us2k12Minor allele frequency- T:0.12CSA EA 122
    rs1162176561,2
    		--23589244(+) GGCAGG/ATTGCT 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs22396301,2
    		C,F,A,H,--23589349(-) CAGGGT/CGAGGG 1 -- us2k1 tfbs313Minor allele frequency- C:0.45EA NS NA WA 2288
    rs1158761941,2
    		F,--23589427(+) TTGCTG/ATCTTT 1 -- us2k11Minor allele frequency- A:0.09WA 118
    rs71557901,2
    		C,F,A,H,--23589586(+) TTCTTT/GGTTCT 1 -- us2k130Minor allele frequency- G:0.47EA NA NS WA CSA 2986
    rs344409441,2
    		C--23589720(+) GGGGGG/-GGGGG 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs124357301,2
    		C,F,H--23589725(+) GGGGGG/TGGGGG 1 -- us2k1 tfbs3 trp31Minor allele frequency- T:0.50NA 4
    rs1136756201,2
    		C,--23589727(+) GGGGGA/-GGGGG 1 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs1176565221,2
    		--23589885(+) GTGTCG/ACATTG 1 -- us2k11Minor allele frequency- A:0.01NA 120
    rs1848970941,2
    		--23589957(+) ATCCTC/GCCTAC 1 -- us2k10--------
    rs1393922381,2
    		--23590156(+) AGGTGC/GCAATA 1 -- us2k10--------
    rs37596081,2
    		C,F,H,--23590279(+) AGGAGG/AAAGAG 1 -- us2k1 tfbs3 trp320Minor allele frequency- A:0.17EA NS NA WA 3836
    rs1144996091,2
    		--23590350(+) TACTGG/TGTCCA 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1901927571,2
    		--23590501(+) TTATGC/TGGGAA 1 -- us2k10--------
    rs1824196731,2
    		--23590528(+) AGTATC/TTTTAT 1 -- us2k10--------
    rs1865927001,2
    		--23590681(+) CCACCG/TTGGGG 1 -- us2k10--------
    rs1441306621,2
    		--23590691(+) GAGGGA/GGAAGT 1 -- us2k10--------
    rs1920051231,2
    		--23590711(+) TAGCTC/TCAGTG 1 -- us2k10--------
    rs1811516801,2
    		--23590736(+) GGATGC/TGGGAG 1 -- us2k10--------
    rs1856391261,2
    		--23590750(+) TGCAAA/TCAGAG 1 -- us2k10--------
    rs1897102411,2
    		--23590757(+) AGAGCC/TGCAGG 1 -- us2k10--------
    rs1115564251,2
    		----3705604(+) TGCCCG/AAAGCT 1 -- ut511Minor allele frequency- A:0.50CSA 2
    rs1497523231,2
    		----23587998(+) CCCAGC/TGCCTT 2 A syn11Minor allele frequency- T:0.00NA 4142
    rs724288751,2
    		----23586462(+) ACACA-/ACACAC
                CACAC     		1 -- ds50010--------
    rs740369161,2
    		----3703374(+) TCCATG/CACACA 1 -- ds50011Minor allele frequency- C:0.50WA 2
    rs2011061291,2
    		----23588266(+) CACCCC/TGGGGC 2 Q R mis10--------
    rs346919521,2
    		----23590152(+) ACCAG-/GTGGCA 1 -- us2k10--------
    rs1411854891,2
    		----23586918(+) CTCAGC/TCGGTA 2 R syn11Minor allele frequency- T:0.00NA 4536
    rs1378572281,2
    		----23587008(+) CAGGGG/TGGTGC 2 P syn11Minor allele frequency- T:0.00NA 2546
    rs619765101,2
    		----3706453(+) GGGCTC/TTGTTT 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1434279301,2
    		----23587020(+) GCAGTG/TGCCAA 2 A syn11Minor allele frequency- T:0.00NA 2412
    rs1473843491,2
    		----23586956(+) CTTGCC/TCTTGT 2 S G mis11Minor allele frequency- T:0.00NA 4332
    rs724122321,2
    		----3703375(+) CCATG-/ACAC  
                ACACA     		1 -- ds50010--------
    rs354582671,2
    		----23589720(+) GGGGG-/GGGGAAG 1 -- us2k10--------
    rs353970081,2
    		----23588083(+) GTTCC-/CGGGGC 2 G GN fra10--------
    rs1484588661,2
    		----23588078(+) GGCAGG/TGGTTC 2 T P mis11Minor allele frequency- T:0.00NA 4140
    rs344026331,2
    		----23587966(+) TAGCT-/CCCCTG 2 S RL fra10--------
    rs714250651,2
    		----3703374(+) CCATGACACAC  
      ACAC    /-    ACACA     		1 -- ds50011Minor allele frequency- -:0.50NA 2
    rs619765091,2
    		----3706450(+) CTGGGG/TCTCTG 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1130914021,2
    		----3704943(+) TATGTG/AGAGGG 2 /P /L mis11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for CEBPE (23586513 - 23588825 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CEBPE: --
    Human Gene Mutation Database (HGMD): CEBPE

    Locus Specific Mutation Databases (LSDB): CEBPE

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CEBPE
    DNA2.0 Custom Variant and Variant Library Synthesis for CEBPE

    Disorders / Diseases
    for CEBPE gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    CEBPE for disorders           About GeneDecksing

    OMIM gene information: 600749   
    OMIM disorders: 245480  
    10 diseases for CEBPE:    About MalaCards
    specific granule deficiency    neutrophil-specific granule deficiency    severe congenital neutropenia    acute lymphoblastic leukemia
    lymphoblastic leukemia    acute myeloid leukemia    neutropenia    myeloid leukemia
    leukemia    retinoblastoma

    1 disease from the University of Copenhagen DISEASES database for CEBPE:
    Leukemia
    Human Genome Epidemiology (HuGE) Navigator: CEBPE (2 documents)

    Export disorders for CEBPE gene to outside databases

    Publications
    for CEBPE gene

    (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 57):
    (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. 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)
    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. (PubMed id 17688422)1, 9 Hattori H....Nakagawa Y. (2007)
    5. 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)
    6. 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)
    7. Double CEBPE-IGH rearrangement due to chromosome dupli cation and cryptic insertion in an adult with B-cell acute lymphoblastic leukemi a. (PubMed id 22137487)1 Pierini V....Mecucci C. (2011)
    8. C/EBPI/ participates in all-trans retinoic acid induct ion of PI3KI^ in U937 cells via an intronic matrix attachment region sequence. (PubMed id 20661648)1 Cai R....Lu J. (2010)
    9. An atlas of combinatorial transcriptional regulation in mouse and man. (PubMed id 20211142)1 Ravasi T....Hayashizaki Y. (2010)
    10. 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 Prasad R.B....Hemminki K. (2010)

    External Searches for CEBPE gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
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    Genome Databases showing CEBPE gene

    (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 H-InvDB: CEBPE

    Other Databases showing CEBPE gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CEBPE gene

    (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/

    Intellectual Property
    for CEBPE gene

    (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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     Regulatory tfbs in CEBPE promoter
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