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Aliases for EBF4 Gene

Aliases for EBF4 Gene

  • Early B-Cell Factor 4 2 3 4 5
  • Olf-1/EBF-Like 4 3 4
  • O/E-4 3 4
  • COE4 3 4
  • OE-4 3 4
  • Transcription Factor COE4 3
  • KIAA1442 4
  • EBF-4 4

External Ids for EBF4 Gene

Previous GeneCards Identifiers for EBF4 Gene

  • GC20P002629
  • GC20P002630
  • GC20P002673
  • GC20P002662
  • GC20P002718
  • GC20P002729
  • GC20P002764
  • GC20P002825
  • GC20P002834

Summaries for EBF4 Gene

Entrez Gene Summary for EBF4 Gene

  • EBF4 belongs to the conserved Olf/EBF family of helix-loop-helix transcription factors, members of which play important roles in neural development and B-cell maturation (Wang et al., 2002 [PubMed 12139918]).[supplied by OMIM, Mar 2008]

GeneCards Summary for EBF4 Gene

EBF4 (Early B-Cell Factor 4) is a Protein Coding gene. GO annotations related to this gene include transcription factor binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is EBF1.

UniProtKB/Swiss-Prot for EBF4 Gene

  • Transcriptional factor which recognizes variations of the palindromic sequence 5-ATTCCCNNGGGAATT-3.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EBF4 Gene

Genomics for EBF4 Gene

Regulatory Elements for EBF4 Gene

Enhancers for EBF4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G002740 0.8 ENCODE 18.2 +49.1 49079 2.3 CTCF DRAP1 ARID4B RAD21 HBP1 ZNF48 GLIS2 ZBTB48 ZNF143 EZH2 EBF4 VPS16 PTPRA PCED1A C20orf141 ENSG00000241690 TMEM239 IDH3B ENSG00000228293 NOP56
GH20G002728 0.6 ENCODE 19.9 +36.3 36324 2.1 TCF12 GLIS1 ZIC2 EZH2 SPI1 TEAD3 EBF4 PCED1A VPS16 PTPRA GC20M002718 PIR31974
GH20G002983 1 Ensembl ENCODE 10.5 +292.4 292433 3.3 PKNOX1 NFIB BMI1 YY1 ZFHX2 EGR1 RELB FOS IKZF2 EGR2 VPS16 PTPRA EBF4 TMEM239 C20orf141 ENSG00000241690 GC20P003041 GC20M002886
GH20G002743 0.8 ENCODE 12.6 +50.4 50392 0.2 ARID4B ZNF48 RAD21 GLIS2 ZNF143 KLF11 ZNF654 MIER2 REST TGIF2 EBF4 VPS16 PCED1A PTPRA C20orf141 ENSG00000241690 TMEM239 PIR31974 GC20M002718
GH20G002751 0.9 ENCODE 11.1 +58.6 58552 0.2 ELF3 FOXA2 ARID4B SIN3A DMAP1 THRB RARA CREM KLF11 SP5 VPS16 PTPRA PCED1A C20orf141 TMEM239 ENSG00000241690 EBF4 SNORD56 SNORD57 SNORD110
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EBF4 on UCSC Golden Path with GeneCards custom track

Promoters for EBF4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000133690 22 1001 ARID4B THRB ZNF48 RAD21 RARA GLIS2 THAP11 KLF11 ZNF362 HMG20B

Genomic Location for EBF4 Gene

Chromosome:
20
Start:
2,692,878 bp from pter
End:
2,760,108 bp from pter
Size:
67,231 bases
Orientation:
Plus strand

Genomic View for EBF4 Gene

Genes around EBF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EBF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EBF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EBF4 Gene

Proteins for EBF4 Gene

  • Protein details for EBF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BQW3-COE4_HUMAN
    Recommended name:
    Transcription factor COE4
    Protein Accession:
    Q9BQW3
    Secondary Accessions:
    • Q1MTP7
    • Q5JY53
    • Q9NUB6
    • Q9P2A6

    Protein attributes for EBF4 Gene

    Size:
    602 amino acids
    Molecular mass:
    64473 Da
    Quaternary structure:
    • Forms either a homodimer or a heterodimer with a related family member.

    Alternative splice isoforms for EBF4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EBF4 Gene

Post-translational modifications for EBF4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for EBF4

No data available for DME Specific Peptides for EBF4 Gene

Domains & Families for EBF4 Gene

Suggested Antigen Peptide Sequences for EBF4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BQW3

UniProtKB/Swiss-Prot:

COE4_HUMAN :
  • Belongs to the COE family.
Family:
  • Belongs to the COE family.
genes like me logo Genes that share domains with EBF4: view

No data available for Gene Families for EBF4 Gene

Function for EBF4 Gene

Molecular function for EBF4 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional factor which recognizes variations of the palindromic sequence 5-ATTCCCNNGGGAATT-3.

Gene Ontology (GO) - Molecular Function for EBF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0008134 transcription factor binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EBF4: view

Phenotypes for EBF4 Gene

GenomeRNAi human phenotypes for EBF4:
genes like me logo Genes that share phenotypes with EBF4: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EBF4 Gene

Localization for EBF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EBF4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EBF4 gene
Compartment Confidence
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EBF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with EBF4: view

Pathways & Interactions for EBF4 Gene

No Data Available

Interacting Proteins for EBF4 Gene

Gene Ontology (GO) - Biological Process for EBF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007275 multicellular organism development IEA --
GO:0045944 positive regulation of transcription from RNA polymerase II promoter IEA --
genes like me logo Genes that share ontologies with EBF4: view

No data available for Pathways by source and SIGNOR curated interactions for EBF4 Gene

Transcripts for EBF4 Gene

Unigene Clusters for EBF4 Gene

Early B-cell factor 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EBF4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - -
SP3:
SP4:

Relevant External Links for EBF4 Gene

GeneLoc Exon Structure for
EBF4
ECgene alternative splicing isoforms for
EBF4

Expression for EBF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EBF4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EBF4 Gene



NURSA nuclear receptor signaling pathways regulating expression of EBF4 Gene:

EBF4

SOURCE GeneReport for Unigene cluster for EBF4 Gene:

Hs.471955

Evidence on tissue expression from TISSUES for EBF4 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with EBF4: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for EBF4 Gene

Orthologs for EBF4 Gene

This gene was present in the common ancestor of animals.

Orthologs for EBF4 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia EBF4 34 35
  • 93.97 (n)
cow
(Bos Taurus)
Mammalia EBF4 34 35
  • 93.63 (n)
mouse
(Mus musculus)
Mammalia Ebf4 34 16 35
  • 90.68 (n)
rat
(Rattus norvegicus)
Mammalia Ebf4 34
  • 89.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia EBF4 35
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EBF4 35
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 95 (a)
ManyToMany
-- 35
  • 86 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-207n2.6 35
  • 64 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta kn 35
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-3 35
  • 57 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 52 (a)
OneToMany
Species where no ortholog for EBF4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for EBF4 Gene

ENSEMBL:
Gene Tree for EBF4 (if available)
TreeFam:
Gene Tree for EBF4 (if available)

Paralogs for EBF4 Gene

Paralogs for EBF4 Gene

(4) SIMAP similar genes for EBF4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EBF4: view

Variants for EBF4 Gene

Sequence variations from dbSNP and Humsavar for EBF4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000019913 -- 2,723,381(+) AGTCT(C/T)GCTCT intron-variant
rs1000040650 -- 2,709,038(+) AAAAT(C/T)AGCCA intron-variant
rs1000066899 -- 2,708,821(+) CATGA(A/C)CGGCA intron-variant
rs1000088284 -- 2,740,666(+) AAGCA(C/G)AGCCT intron-variant
rs1000155560 -- 2,740,082(+) CCAAG(G/T)CGGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EBF4 Gene

Variant ID Type Subtype PubMed ID
dgv2202n106 CNV deletion 24896259
dgv7438n54 CNV gain+loss 21841781
dgv7439n54 CNV gain 21841781
dgv7440n54 CNV gain 21841781
esv2762056 CNV gain 21179565
esv28668 CNV loss 19812545
esv3645018 CNV loss 21293372
nsv1057464 CNV gain 25217958
nsv1072097 CNV deletion 25765185
nsv1073038 CNV deletion 25765185
nsv458852 CNV loss 19166990
nsv470535 CNV gain 18288195
nsv510780 CNV deletion 20534489
nsv519426 CNV loss 19592680
nsv522009 CNV gain 19592680
nsv585266 CNV loss 21841781
nsv585275 CNV loss 21841781
nsv833895 CNV loss 17160897
nsv952976 CNV deletion 24416366

Variation tolerance for EBF4 Gene

Gene Damage Index Score: 1.32; 26.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EBF4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EBF4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EBF4 Gene

Disorders for EBF4 Gene

Relevant External Links for EBF4

Genetic Association Database (GAD)
EBF4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EBF4

No disorders were found for EBF4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EBF4 Gene

Publications for EBF4 Gene

  1. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4 64
  3. Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis. (PMID: 22491018) Wang J. … Platt A. (Pharmacogenomics J. 2013) 46 64
  4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) OlA!h J. … OvA!di J. (J. Biol. Chem. 2011) 3 64
  5. Biochemical and computational analysis of LNX1 interacting proteins. (PMID: 22087225) Wolting C.D. … McGlade C.J. (PLoS ONE 2011) 3 64

Products for EBF4 Gene

Sources for EBF4 Gene

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