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

EBF1 Gene

protein-coding   GIFtS: 56
GCID: GC05M158123

Early B-Cell Factor 1

(Previous name: early B-cell factor)
(Previous symbol: EBF)
  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
Early B-Cell Factor 11 2     OE-12 3
EBF1 2 3 5     OLF12 5
Early B-Cell Factor1 3     Collier, Olf And EBF Transcription Factor 12
COE12 3     Olfactory Neuronal Transcription Factor 12
O/E-12 3     Transcription Factor COE12

External Ids:    HGNC: 31261   Entrez Gene: 18792   Ensembl: ENSG000001643307   OMIM: 1643435   UniProtKB: Q9UH733   

Export aliases for EBF1 gene to outside databases

Previous GC identifers: GC05M158059 GC05M153220


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

GeneCards Summary for EBF1 Gene: 
EBF1 (early B-cell factor 1) is a protein-coding gene. Diseases associated with EBF1 include interleukin-7 receptor alpha deficiency, and plasmacytoma, and among its related super-pathways are Axon guidance. GO annotations related to this gene include protein dimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is EBF3.

UniProtKB/Swiss-Prot: COE1_HUMAN, Q9UH73
Function: Transcriptional activator which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'
(By similarity)

Gene Wiki entry for EBF1 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_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EBF1 gene promoter:
         NF-1   AML1a   NRSF form 1   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEBF1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EBF1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EBF1


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

Entrez Gene cytogenetic band: 5q34   Ensembl cytogenetic band:  5q33.3   HGNC cytogenetic band: 5q34

EBF1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EBF1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M158123:  view genomic region     (about GC identifiers)

Start:
158,122,923 bp from pter      End:
158,526,788 bp from pter
Size:
403,866 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: COE1_HUMAN, Q9UH73 (See protein sequence)
Recommended Name: Transcription factor COE1  
Size: 591 amino acids; 64464 Da
Subunit: Forms either a homodimer or a heterodimer with a related family member (By similarity). Interacts with
ZNF423 and ZNF521, leading to prevent EBF1 to bind DNA and activate target genes
Subcellular location: Nucleus (Potential)
2 PDB 3D structures from and Proteopedia for EBF1:
3LYR (3D)        3MQI (3D)    
Secondary accessions: Q8IW11
Alternative splicing: 2 isoforms:  Q9UH73-1   Q9UH73-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EBF1: NX_Q9UH73

Explore proteomics data for EBF1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UH73

  • EBF1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EBF1 Protein Expression
    REFSEQ proteins: NP_076870.1  
    ENSEMBL proteins: 
     ENSP00000322898   ENSP00000370029   ENSP00000428020  
    Reactome Protein details: Q9UH73
    Human Recombinant Protein Products for EBF1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for EBF1
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    Novus Biologicals EBF1 Protein
    Novus Biologicals EBF1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EBF1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    EBF1 for ontologies           About GeneDecksing



    EBF1 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for EBF1 
    Cloud-Clone Corp. CLIAs for EBF1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 InterPro protein domains (see all 6):
     IPR014756 Ig_E-set
     IPR011598 bHLH_dom
     IPR002909 IPT_TIG_rcpt
     IPR018350 Transcription_factor_COE_CS
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry Q9UH73

    ProtoNet protein and cluster: Q9UH73

    3 Blocks protein domains:
    IPB001092 Basic helix-loop-helix dimerization domain bHLH
    IPB002909 Cell surface receptor IPT/TIG
    IPB003523 Transcription factor COE


    UniProtKB/Swiss-Prot: COE1_HUMAN, Q9UH73
    Similarity: Belongs to the COE family
    Similarity: Contains 1 IPT/TIG domain


    EBF1 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: COE1_HUMAN, Q9UH73
    Function: Transcriptional activator which recognizes variations of the palindromic sequence 5'-ATTCCCNNGGGAATT-3'
    (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0005515protein binding ----
    GO:0046872metal ion binding IEA--
    GO:0046983protein dimerization activity IEA--
         
    EBF1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ebf1):
     adipose tissue  cellular  growth/size  hematopoietic system  immune system 
     integument  liver/biliary system  mortality/aging  nervous system  skeleton 

    EBF1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ebf1tm1Rug for EBF1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EBF1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EBF1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EBF1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EBF1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EBF1
    8/113 QIAGEN miScript miRNA Assays for microRNAs that regulate EBF1 (see all 113):
    hsa-miR-323-3p hsa-miR-100* hsa-miR-26a-2* hsa-miR-300 hsa-miR-3146 hsa-miR-199a-3p hsa-miR-605 hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidEBF1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EBF1
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    Gene Editing
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of EBF1 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EBF1


    (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 EBF1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Axon guidance
    Developmental Biology0.69
    2Transcriptional Regulation of White Adipocyte Differentiation
    Transcriptional Regulation of White Adipocyte Differentiation
    3Selected targets of C/EBPbeta
    Selected targets of C/EBPbeta
    4Adipogenesis
    Adipogenesis
    5Selected targets of C/EBPalpha
    Selected targets of C/EBPalpha

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for EBF1
        Selected targets of C/EBPbeta
    Selected targets of C/EBPalpha


    1 BioSystems Pathway for EBF1
        Adipogenesis

    2        Reactome Pathways for EBF1
        Developmental Biology
    Transcriptional Regulation of White Adipocyte Differentiation



    EBF1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EBF1

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

    5/75 Interacting proteins for EBF1 (Q9UH733 ENSP000003228984) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZNF423Q2M1K93, ENSP000002623834I2D: score=4 STRING: ENSP00000262383
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    ZNF521Q96K833, ENSP000003547944I2D: score=1 STRING: ENSP00000354794
    PAX5Q025483, ENSP000003508444I2D: score=1 STRING: ENSP00000350844
    BCL6P411823, ENSP000002320144I2D: score=2 STRING: ENSP00000232014
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007275multicellular organismal development IEA--
    GO:0045893positive regulation of transcription, DNA-dependent IEA--

    EBF1 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 EBF1 (COE1)

    Search CenterWatch for drugs/clinical trials and news about EBF1 / COE1

    (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 EBF1 gene: 
    NM_024007.3  

    Unigene Cluster for EBF1:

    Early B-cell factor 1
    Hs.573143  [show with all ESTs]
    Unigene Representative Sequence: NM_024007
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519890 ENST00000519739 ENST00000518836(uc011ddw.2) ENST00000313708(uc010jip.3 uc011ddx.2 uc003lxl.4)
    ENST00000518323 ENST00000380654 ENST00000517373 ENST00000522192 ENST00000523464
    ENST00000523315
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EBF1
    8/113 QIAGEN miScript miRNA Assays for microRNAs that regulate EBF1 (see all 113):
    hsa-miR-323-3p hsa-miR-100* hsa-miR-26a-2* hsa-miR-300 hsa-miR-3146 hsa-miR-199a-3p hsa-miR-605 hsa-miR-3653
    SwitchGear 3'UTR luciferase reporter plasmidEBF1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for EBF1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat EBF1
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    OriGene clones in human, mouse for EBF1 (see all 8)
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    GenScript: all cDNA clones in your preferred vector: EBF1 (NM_024007)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for EBF1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EBF1
    Sirion Biotech Customized lentivirus for stable overexpression of EBF1 
                         Customized lentivirus expression plasmids for stable overexpression of EBF1 
    Primer
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    OriGene qPCR primer pairs and template standards for EBF1
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat EBF1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EBF1

    Additional mRNA sequence: 

    AF208502.1 AK021803.1 AK096708.1 AK123757.1 AK289712.1 AK303698.1 AK304438.1 BC019927.1 
    BC038805.1 BC041178.1 

    10 DOTS entries:

    DT.97839542  DT.309797  DT.206057  DT.97839541  DT.40198193  DT.101957176  DT.100683327  DT.120818321 
    DT.95069897  DT.95356530 

    24/105 AceView cDNA sequences (see all 105):

    AU145682 BM685055 BM802733 AA746092 H88863 AA910081 AA427900 AA669979 
    AA904035 AI478562 AK021803 BM932023 BX282724 AI493206 BQ423155 BQ227494 
    AA505797 AA743152 AA761874 AI472207 CA445507 CD701001 AK123757 AA917497 

    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

    EBF1 expression in normal human tissues (normalized intensities)      EBF1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCAGTGGTT
    EBF1 Expression
    About this image


    EBF1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/30 selected tissues (see all 30) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Adult Endothelial Cells Blood Brain Barrier
             Thalamus
             Midbrain dopaminergic-like neurons ( Generation of midbrain dopaminergic, forebrain...
             Human Brain Vascular Pericyte (HBVP)   
             ganglion/cranial   
     
     Eye (Sensory Organs)    fully expand to see all 7 entries
             nGnG Amacrine Cells Inner Nuclear Layer
             Retina
     
     Blood (Hematopoietic System)    fully expand to see all 7 entries
             Common Lymphoid Progenitor Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived mesenchymal stem cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral disc (IVD) annulus fibrosus (AF) cells
             Human Annulus Fibrosus Cells (HAFC)   
     
     Bone (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+BMP4-induced SM30 cells
             Human Calvarial Osteoblasts (HCO)   

    See EBF1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EBF1

    SOURCE GeneReport for Unigene cluster: Hs.573143
        SABiosciences Custom PCR Arrays for EBF1
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EBF1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EBF1

    (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 EBF1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ebf11 , 5 early B cell factor 11, 5 94.08(n)1
    100(a)1
      11 (26.45 cM)5
    135911  NM_007897.21  NP_031923.11 
     446173175 
    chicken
    (Gallus gallus)
    Aves EBF11 early B-cell factor 1 86.63(n)
    98.48(a)
      395512  NM_204752.1  NP_990083.1 
    lizard
    (Anolis carolinensis)
    Reptilia EBF46
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    97(a)
    96(a)
    (see all 3)
    possible ortholog
    many → 1
    (see all 3)
    GL344110.1(1207-46748)
    GL343205.1(3943790-4086177)
    zebrafish
    (Danio rerio)
    Actinopterygii coe22 coe2 73.7(n)   30692  AF072657.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta kn1 knot 66.24(n)
    74.63(a)
      45318  NM_001103847.2  NP_001097317.1 
    worm
    (Caenorhabditis elegans)
    Secernentea unc-31 Protein UNC-3 64.94(n)
    72.13(a)
      181573  NM_078052.2  NP_510453.1 


    ENSEMBL Gene Tree for EBF1 (if available)
    TreeFam Gene Tree for EBF1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EBF1 gene
    EBF32  EBF22  EBF42  
    4 SIMAP similar genes for EBF1 using alignment to 2 protein entries:     COE1_HUMAN (see all proteins):
    EBF3    DKFZp667I0324    EBF2    EBF4

    EBF1 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

    10/7488 SNPs in EBF1 are shown (see all 7488)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1917145351,2
    --158122433(+) AAAAAA/TTATTG 1 -- int10--------
    rs1178725891,2
    C,F--158122436(+) AAATAT/ATGATA 1 -- int11Minor allele frequency- A:0.02EA 120
    rs1151639761,2
    F--158122447(+) ACAGAA/TGGCTC 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1841208651,2
    --158122461(+) TCACAC/TATGCC 1 -- int10--------
    rs1879531191,2
    --158122509(+) AGAAGA/GCTCGC 1 -- int10--------
    rs1930709461,2
    --158122512(+) AGGCTC/TGCTGG 1 -- int10--------
    rs790119821,2
    C,F--158122566(+) AGCACG/AAAGGA 1 -- int11Minor allele frequency- A:0.04NA 120
    rs1858008811,2
    --158122572(+) AAGGAG/TAGGGG 1 -- int10--------
    rs117383361,2
    H--158122631(+) TCTCAG/TGGCTT 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs21611401,2
    C,F,O,A,H--158122679(-) CACACT/CGGTCC 1 -- int130Minor allele frequency- C:0.17NS EA NA WA CSA 2854

    HapMap Linkage Disequilibrium report for EBF1 (158122923 - 158372923 bp, first 250kb of EBF1)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for EBF1 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2730966CNV Deletion23290073
    esv2730967CNV Deletion23290073
    esv999938CNV Deletion20482838
    esv2730968CNV Deletion23290073
    nsv5094CNV Insertion18451855
    nsv5093CNV Insertion18451855
    dgv153e180CNV Loss20482838
    nsv524803CNV Loss19592680
    nsv526407CNV Loss19592680
    nsv830528CNV Gain17160897

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    (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: 164343    OMIM disorders: --

    11 diseases for EBF1:    About MalaCards
    interleukin-7 receptor alpha deficiency    plasmacytoma    primary effusion lymphoma    neuronitis
    acute lymphoblastic leukemia    b-cell lymphomas    lymphoblastic leukemia    hodgkin's lymphoma
    multiple sclerosis    neuroblastoma    leukemia


    EBF1 for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for EBF1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    plasmacytoma 65 1 8693297 (1)
    tumors 0 1 19996307 (1)

    Genetic Association Database (GAD): EBF1
    Human Genome Epidemiology (HuGE) Navigator: EBF1 (5 documents)

    Export disorders for EBF1 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 EBF1 gene, integrated from 9 sources (see all 81):
    (articles sorted by number of sources associating them with EBF1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Gene for a tissue-specific transcriptional activator (EBF or Olf-1), expressed in early B lymphocytes, adipocytes, and olfactory neurons, is located on human chromosome 5, band q34, and proximal mouse chromosome 11. (PubMed id 8012110)1, 3, 9 Milatovich A....Francke U. (1994)
    2. Cloning of human early B-cell factor and identification of target genes suggest a conserved role in B-cell development in man and mouse. (PubMed id 10942392)1, 2, 9 Gisler R.... Sigvardsson M. (2000)
    3. Early hematopoietic zinc finger protein (EHZF), the human homolog to mouse Evi3, is highly expressed in primitive human hematopoietic cells. (PubMed id 14630787)1, 2, 9 Bond H.M....Venuta S. (2004)
    4. Structural determination of functional domains in ear ly B-cell factor (EBF) family of transcription factors reveals similarities to Rel DNA-binding proteins and a novel dimerization motif. (PubMed id 20592035)1, 2 Siponen M.I....Berglund H. (2010)
    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. Inhibition of p300/CBP by early B-cell factor. (PubMed id 12748286)1, 9 Zhao F....Kadesch T. (2003)
    7. Inhibition of EBF function by active Notch signaling reveals a novel regulatory pathway in early B-cell development. (PubMed id 15920012)1, 9 Smith E.M....Sigvardsson M. (2005)
    8. Early B-cell Factor gene association with multiple sclerosis in the Spanish population. (PubMed id 16255771)1, 9 Martinez A....Urcelay E. (2005)
    9. The human V-preB promoter is a target for coordinated activation by early B cell factor and E47. (PubMed id 11994467)1, 9 Gisler R. and Sigvardsson M. (2002)
    10. Cloning and functional characterization of early B-cell factor, a regulator of lymphocyte-specific gene expression. (PubMed id 8491377)1, 9 Hagman J....Grosschedl R. (1993)

    (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: 1879 HGNC: 3126 AceView: EBF Ensembl:ENSG00000164330 euGenes: HUgn1879
    ECgene: EBF1 H-InvDB: EBF1

    (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 EBF1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EBF1 gene:
    Search GeneIP for patents involving EBF1

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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