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

CEBPA Gene

protein-coding   GIFtS: 61
GCID: GC19M033790

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


(Previous symbol: CEBP)
Microbiology & Infectious Diseases Congress
  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), Alpha1 2
CEBP1 2 5
C/EBP-alpha2
CCAAT/Enhancer-Binding Protein Alpha2
C/EBP Alpha3

External Ids:    HGNC: 18331   Entrez Gene: 10502   Ensembl: ENSG000002458487   OMIM: 1168975   UniProtKB: P497153   

Export aliases for CEBPA gene to outside databases

Previous GC identifers: GC19M034408 GC19M034239 GC19M038466 GC19M038482 GC19M030291


(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 CEBPA Gene:
The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to
certain promoters and enhancers. It can also form heterodimers with the related proteins CEBP-beta and
CEBP-gamma. The encoded protein has been shown to bind to the promoter and modulate the expression of the gene
encoding leptin, a protein that plays an important role in body weight homeostasis. Also, the encoded protein can
interact with CDK2 and CDK4, thereby inhibiting these kinases and causing growth arrest in cultured cells.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CEBPA Gene: 
CEBPA (CCAAT/enhancer binding protein (C/EBP), alpha) is a protein-coding gene. Diseases associated with CEBPA include familial acute myeloid leukemia with mutated cebpa, and inherited acute myeloid leukemia, and among its related super-pathways are Axon guidance and Akt Signaling. 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 CEBPD.

UniProtKB/Swiss-Prot: CEBPA_HUMAN, P49715
Function: C/EBP is a DNA-binding protein that recognizes two different motifs: the CCAAT homology common to many
promoters and the enhanced core homology common to many enhancers

Gene Wiki entry for CEBPA 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_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CEBPA gene promoter:
         E2F-3a   CREB   deltaCREB   E2F-2   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCEBPA promoter sequence
   Search SABiosciences Chromatin IP Primers for CEBPA

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


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.11   HGNC cytogenetic band: 19q13.1

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M033790:  view genomic region     (about GC identifiers)

Start:
33,790,840 bp from pter      End:
33,793,470 bp from pter
Size:
2,631 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: CEBPA_HUMAN, P49715 (See protein sequence)
Recommended Name: CCAAT/enhancer-binding protein alpha  
Size: 358 amino acids; 37561 Da
Subunit: Interacts with PRDM16 (By similarity). Binds DNA as a dimer and can form stable heterodimers with C/EBP
beta and gamma. Interacts with UBN1. Interacts with HBV protein X. Interacts with ZNF638; this interaction
increases transcriptional activation (By similarity)
Subcellular location: Nucleus
Secondary accessions: A7LNP2 P78319 Q05CA4

Explore the universe of human proteins at neXtProt for CEBPA: NX_P49715

Explore proteomics data for CEBPA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P49715

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

    CEBPA Protein Expression
    REFSEQ proteins: NP_004355.2  
    ENSEMBL proteins: 
     ENSP00000427514  
    Reactome Protein details: P49715
    Human Recombinant Protein Products for CEBPA: 
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    Novus Biologicals CEBPA Proteins
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CEBPA
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS7575576
    GO:0005667transcription factor complex ----
    GO:0016363nuclear matrix IEA--
    GO:0035189Rb-E2F complex IEA--
    GO:0043234protein complex ----

    CEBPA for ontologies           About GeneDecksing



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    (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 P49715

    ProtoNet protein and cluster: P49715

    UniProtKB/Swiss-Prot: CEBPA_HUMAN, P49715
    Similarity: Belongs to the bZIP family. C/EBP subfamily
    Similarity: Contains 1 bZIP (basic-leucine zipper) domain


    CEBPA 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: CEBPA_HUMAN, P49715
    Function: C/EBP is a DNA-binding protein that recognizes two different motifs: the CCAAT homology common to many
    promoters and the enhanced core homology common to many enhancers

         Genatlas biochemistry entry for CEBPA:
    CCAAT enhancer binding protein alpha (C/EBP),expressed at highest level in placenta,also expressed in
    liver,lung,skeletal muscle,pancreas,colon,small intestine,peripheral lymphocytes,not expressed in
    preadipocytes,induced by CEBPB and CEBPD,coexpressed with and cross-regulated by PPARG,jointly required for full
    adipocyte differentiation,likely involved in adipocyte differentiation putative down regulated c-Myc target gene,

         Gene Ontology (GO): 5/12 molecular function terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding TAS8643605
    GO:0003700sequence-specific DNA binding transcription factor activity IDA12695546
    GO:0003705RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity NAS7575576
    GO:0005515protein binding IPI12692227
    GO:0008134transcription factor binding IPI15664994
         
    CEBPA for ontologies           About GeneDecksing


    Phenotypes:
         15/20 MGI mutant phenotypes (inferred from 22 alleles(MGI details for Cebpa) (see all 20):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging  muscle  no phenotypic analysis 

    CEBPA for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CEBPA: Cebpatm1Btp Cebpatm1Kgx Cebpatm5Nerl Cebpatm1.1Gonz Cebpatm8.1Nerl Cebpatm1Gjd

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CEBPA 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CEBPA 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CEBPA 

    miRNA
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    hsa-mir-124 (MIRT002025), hsa-mir-1 (MIRT000390), hsa-mir-138 (MIRT005488)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CEBPA
    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate CEBPA (see all 47):
    hsa-miR-642a hsa-miR-300 hsa-miR-330-5p hsa-miR-25 hsa-miR-374a hsa-miR-374c hsa-miR-124 hsa-miR-326
    SwitchGear 3'UTR luciferase reporter plasmidCEBPA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    (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 CEBPA About   (see all 21)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Axon guidance
    Developmental Biology0.69
    2Akt Signaling
    p38 Signaling0.60
    3Development Leptin signaling via PI3K-dependent pathway
    Development Leptin signaling via PI3K-dependent pathway1.00
    4PEDF Induced Signaling
    Glucocorticoid Receptor Signaling0.43
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Non-alcoholic fatty liver disease (NAFLD)0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for CEBPA
        Selected targets of C/EBPalpha
    Development Leptin signaling via PI3K-dependent pathway

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CEBPA
        Epithelial Tight Junctions
    Glucocorticoid Receptor Signaling
    p38 Signaling

    2 Cell Signaling Technology (CST) Pathways for CEBPA
        Lymphocyte Signaling
    Glucose / Energy Metabolism

    1 GeneGo (Thomson Reuters) Pathway for CEBPA
        Development Leptin signaling via PI3K-dependent pathway

    5/8 BioSystems Pathways for CEBPA (see all 8)
        EGFR1 Signaling Pathway
    Adipogenesis
    Regulation of Androgen receptor activity
    C-MYB transcription factor network
    Regulation of retinoblastoma protein

    2        Reactome Pathways for CEBPA
        Developmental Biology
    Transcriptional Regulation of White Adipocyte Differentiation


    4         Kegg Pathways  (Kegg details for CEBPA):
        Non-alcoholic fatty liver disease (NAFLD)
    Pathways in cancer
    Transcriptional misregulation in cancer
    Acute myeloid leukemia


    CEBPA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CEBPA

    5/80 Interacting proteins for CEBPA (P497151, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDX1P479022, 3MINT-6800315 MINT-6800330 MINT-6800304 I2D: score=2 
    RUNX1Q011962, 3MINT-4791133 I2D: score=2 
    PARP1P098741, 3EBI-1172054,EBI-355676 I2D: score=1 
    UBTFP174802, 3MINT-7720853 I2D: score=1 
    NCOA6Q146863I2D: score=5 
    About this table

    Gene Ontology (GO): 5/37 biological process terms (GO ID links to tree view) (see all 37):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000050urea cycle IEA--
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001889liver development IEA--
    GO:0001892embryonic placenta development IEA--
    GO:0006091generation of precursor metabolites and energy TAS8643605

    CEBPA 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

    CEBPA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CEBPA

    10/13 Novoseek inferred chemical compound relationships for CEBPA gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 49.9 4 20096664 (1), 11101056 (1), 16857754 (1), 19416713 (1)
    glycerol 3-phosphate 49.8 2 16537646 (1), 17135605 (1)
    leucine 45.5 4 12668682 (1), 18729193 (1), 11369759 (1), 16455820 (1)
    triacylglycerol 36.5 1 18474584 (1)
    fatty acid 31.4 6 14966273 (1), 16945991 (1), 18263877 (1), 14969395 (1) (see all 6)
    lipid 25.7 4 11851871 (1), 16936206 (1), 19948481 (1)
    retinoic acid 16.7 3 17217039 (1), 17975308 (1)
    acyl-coa 14.1 1 14969395 (1)
    glucose 13.6 4 14966273 (1), 16945991 (1), 15277525 (1)
    deferoxamine 12.6 4 15902299 (2), 15935329 (1)

    Search CenterWatch for drugs/clinical trials and news about CEBPA

    (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 CEBPA gene: 
    NM_004364.3  

    Unigene Cluster for CEBPA:

    CCAAT/enhancer binding protein (C/EBP), alpha
    Hs.76171  [show with all ESTs]
    Unigene Representative Sequence: NM_004364
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000498907(uc002nun.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/47 QIAGEN miScript miRNA Assays for microRNAs that regulate CEBPA (see all 47):
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    Additional mRNA sequence: 

    BC027902.1 BC063874.1 

    9 DOTS entries:

    DT.313790  DT.99927003  DT.100792942  DT.100792946  DT.91745932  DT.100026402  DT.91917294  DT.121462413 
    DT.100792947 

    24/143 AceView cDNA sequences (see all 143):

    N45357 BC027902 AW815561 AI762185 BG315345 BG480298 AW316813 CR590634 
    BM560292 BE856971 BE855613 CB157806 BG482052 NM_004364 BM910562 BE730660 
    CD245672 BE278960 BM857299 BX357445 BG481789 BX371885 CD618576 AW815422 

    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

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


    CEBPA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 24 entries
             Visceral White Adipocytes Visceral White Adipose
             Immature adipocyte-like cells ( Generation of adipocytes from human pluripotent...
     
     Blood (Hematopoietic System)    fully expand to see all 6 entries
             Common Myeloid Progenitor Cells Hematopoietic Bone Marrow
             Peripheral Blood Immature Myeloid Dendritic Cells   
     
     Liver (Hepatobiliary System)    fully expand to see all 5 entries
             Hepatoblasts Liver Bud
             Hepatocyte-like cells ( Functional hepatocyte generation from human embryonic stem...
     
     Lower Urinary Tract (Urinary System)
             visceral organ/urethra of male/pelvic urethra of male   
     
     Pancreas (Endocrine System)
             Posterior foregut-like cells ( A scalable, suspension protocol for derivation of...

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

    SOURCE GeneReport for Unigene cluster: Hs.76171
        SABiosciences Expression via Pathway-Focused PCR Arrays including CEBPA (see all 6): 
              Insulin Signaling Pathway in human mouse rat
              Antigen Presenting Cells in human mouse rat
              Insulin Resistance in human mouse rat
              Transcription Factors in human mouse rat
              Diabetes in human mouse rat

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

    (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 CEBPA gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cebpa1 , 5 CCAAT/enhancer binding protein (C/EBP), alpha1, 5 92.18(n)1
    95.76(a)1
      7 (21.02 cM)5
    126061  NM_007678.31  NP_031704.21 
     351192935 
    chicken
    (Gallus gallus)
    Aves CEBPA1 CCAAT/enhancer binding protein (C/EBP), alpha 79(n)
    71.16(a)
      427549  NM_001031459.1  NP_001026630.1 
    lizard
    (Anolis carolinensis)
    Reptilia CEBPA6
    Uncharacterized protein
    60(a)
    1 ↔ 1
    AAWZ02038989(1842-2498)
    African clawed frog
    (Xenopus laevis)
    Amphibia cebpa-prov2 CCAAT/enhancer binding protein (C/EBP), alpha 76.44(n)    BC041714.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cebpa2 CCAAT/enhancer binding protein (C/EBP), alpha 79.62(n)   140815  BC063934.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta slbo6
    slow border cells
    11(a)
    1 → many
    2R(20219045-20221829)
    worm
    (Caenorhabditis elegans)
    Secernentea cebp-26
    Protein CEBP-2
    26(a)
    1 → many
    I(6253019-6253583)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CEBPA gene
    CEBPD2  CEBPB2  CEBPE2  CEBPG2  
    1 SIMAP similar gene for CEBPA using alignment to 1 protein entry:     CEBPA_HUMAN:
    CEBPE

    CEBPA 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

    10/18 SNPs in CEBPA are shown (see all 18)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs104035611,2
    C,F,A,H--33790502(+) GGCCTG/ACCCCT 1 -- ds500122Minor allele frequency- A:0.49NS EA NA WA CSA 2347
    rs414647461,2
    C,F--33790536(+) CTCCCC/AGGGGC 1 -- ds50012Minor allele frequency- A:0.27WA NA 238
    rs413556491,2
    C,F--33790556(+) GCCTCG/ACCAAG 1 -- ds50011Minor allele frequency- A:0.03NA 120
    rs747089651,2
    F--33790604(+) CCCCAA/GGAGAC 1 -- ds50010--------
    rs414760471,2
    C--33790635(+) ACTCCA/GTTTGG 1 -- ds50013Minor allele frequency- G:0.28CSA WA NA 240
    rs349958971,2
    C,F,H--33790754(-) ATTTTC/TCCTGG 1 -- ds50014Minor allele frequency- T:0.03EA NS NA 342
    rs722918061,2
    C--33790825(+) TTAAA-/AAGACAC 1 -- ds50010--------
    rs351967241,2
    C--33790928(-) AGGACC/GGCTTG 1 -- ut310--------
    rs1165287761,2
    C,F--33791117(+) AAACCA/CAAAGG 1 -- ut311Minor allele frequency- C:0.01WA 118
    rs126911,2
    C,F,O,A,H--33791127(-) GACTCC/TCTTTC 1 -- ut3121Minor allele frequency- T:0.15MN NS EA EU NA CSA WA 3119

    HapMap Linkage Disequilibrium report for CEBPA (33790840 - 33793470 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CEBPA:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3841n71CNV Loss21882294
    dgv3844n71CNV Loss21882294
    nsv833808CNV Loss17160897
    nsv2463CNV Loss18451855
    nsv911593CNV Loss21882294
    dgv1073e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): CEBPA
    5/10 SABiosciences Cancer Mutation PCR Assays for CEBPA (see all 10):
    Cosmic IdAA Change
    18495p.G36fs*124
    18543p.K304_Q305insL
    18104p.K313del
    18466p.Q312_K313insQ
    18099p.K313_V314insK
    3 SABiosciences Cancer Mutation PCR Arrays containing CEBPA:
    Hematopoietic Neoplasms
    Cancer Comprehensive Panel 384HT
    Tumor Suppressor Panel 384HT
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CEBPA
    DNA2.0 Custom Variant and Variant Library Synthesis for CEBPA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 116897   
    OMIM disorders: 601626  
    20/46 diseases for CEBPA (see all 46):    About MalaCards
    familial acute myeloid leukemia with mutated cebpa    inherited acute myeloid leukemia    acute myeloid leukemia with cebpa somatic mutations    mn1
    dedifferentiated liposarcoma    skin squamous cell carcinoma    acute promyelocytic leukemia    acute myeloid leukemia
    gestational diabetes    skin cancer    acute leukemia    kaposi's sarcoma
    retinoblastoma    hepatoblastoma    liposarcoma    wilms tumor
    myelodysplastic syndromes    brain injury    cytochrome p450    hypoxia


    CEBPA for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for CEBPA gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia 36.6 4 18729193 (1), 15326310 (1), 18239623 (1)
    retinoblastoma 34.2 2 12045192 (1), 9261165 (1)
    acute leukemia 28.4 1 12351377 (1)
    obesity 22.2 1 16311219 (1)
    tumors 4.73 6 16537832 (1), 11522776 (1), 18024476 (1), 11242107 (1) (see all 6)
    necrosis 0 1 11522776 (1)

    Genetic Association Database (GAD): CEBPA
    Human Genome Epidemiology (HuGE) Navigator: CEBPA (43 documents)

    Export disorders for CEBPA 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 CEBPA gene, integrated from 9 sources (see all 405):
    (articles sorted by number of sources associating them with CEBPA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. (PubMed id 18768433)1, 4, 9 Pabst T....Mueller B.U. (2008)
    2. CCAAT/enhancer-binding protein alpha (CEBPA) polymorp hisms and mutations in healthy individuals and in patients with peripheral arte ry disease, ischaemic heart disease and hyperlipidaemia. (PubMed id 20492756)1, 4, 9 Fuchs O....Chochola M. (2010)
    3. Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML. (PubMed id 12692518)1, 4, 9 Barjesteh van Waalwijk van Doorn-Khosrovani S....Delwel R. (2003)
    4. Favorable prognostic significance of CEBPA mutations in patients with de novo acute myeloid leukemia: a study from the Acute Leukemia French Association (ALFA). (PubMed id 12351377)1, 4, 9 Preudhomme C....Dombret H. (2002)
    5. CEBPA point mutations in hematological malignancies. (PubMed id 15674366)1, 4, 9 Leroy H....Preudhomme C. (2005)
    6. CEBPA polymorphisms and mutations in patients with acute myeloid leukemia, myelodysplastic syndrome, multiple myeloma and non-Hodgkin's lymphoma. (PubMed id 18182175)1, 4, 9 Fuchs O....Benesova K. (2008)
    7. Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype. (PubMed id 16046528)1, 4, 9 Boissel N....Preudhomme C. (2005)
    8. Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF). (PubMed id 1535333)1, 3, 9 Szpirer C....Szpirer J. (1992)
    9. A copy number repeat polymorphism in the transactivat ion domain of the CEPBA gene is possibly associated with a protective effect ag ainst acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 h ealthy controls. (PubMed id 20888888)1, 4 Schnittger S....Haferlach T. (2011)
    10. Acute myeloid leukemia with biallelic CEBPA gene muta tions and normal karyotype represents a distinct genetic entity associated with a favorable clinical outcome. (PubMed id 20038735)1, 4 Dufour A....Spiekermann K. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 1050 HGNC: 1833 AceView: CEBPA Ensembl:ENSG00000245848 euGenes: HUgn1050
    ECgene: CEBPA Kegg: 1050 H-InvDB: CEBPA

    (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 CEBPA Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CEBPA Genetics and Cytogenetics in Oncology and Haematology
    SeattleSNPshttp://pga.gs.washington.edu/data/cebpa/

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

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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