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] See more...

Aliases for EBF4 Gene

Aliases for EBF4 Gene

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

External Ids for EBF4 Gene

Previous GeneCards Identifiers for EBF4 Gene

  • GC20P002629
  • GC20P002630
  • GC20P002673
  • GC20P002662
  • GC20P002718
  • GC20P002729
  • GC20P002910
  • GC20P002922
  • GC20P002935
  • GC20P002764
  • GC20P002825
  • GC20P002834
  • GC20P002850
  • GC20P002863
  • GC20P002875
  • GC20P002887
  • GC20P002898

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 (EBF Family Member 4) is a Protein Coding gene. Diseases associated with EBF4 include Gestational Choriocarcinoma. Gene Ontology (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 Summary for EBF4 Gene

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

Additional gene information for EBF4 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EBF4 Gene

Genomics for EBF4 Gene

GeneHancer (GH) Regulatory Elements for EBF4 Gene

Promoters and enhancers for EBF4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J002691 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas 500.7 +0.1 88 2.5 ZIC2 ZBTB26 ZBTB25 CTBP1 SKI EZH2 KMT2B RXRA SP2 MXI1 EBF4 LOC105372507 lnc-IDH3B-1 lnc-NOP56-2
GH20J002870 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 11.2 +180.2 180246 5.8 HNRNPK EP300 CTCF ZSCAN5C NRF1 TCF12 POLR2G SP1 NCOR1 GTF2E2 PTPRA VPS16 SNRPB ZNF343 PCED1A MAVS EBF4 C20orf141 ENSG00000241690 TMEM239
GH20J002738 Enhancer 1.3 VISTA Ensembl ENCODE 18.2 +48.1 48123 5.2 CTCF GABPA REST TGIF2 ZBTB7A TRIM22 SMC3 NFIC ZBTB17 RAD21 EBF4 VPS16 PTPRA PCED1A ENSG00000241690 TMEM239 C20orf141 ENSG00000228293 IDH3B SNORD56
GH20J002750 Promoter/Enhancer 1.3 Ensembl ENCODE 11.1 +59.0 58990 2.7 CTCF POLR2G USF1 ZNF639 ZBTB10 FOXA1 ZBTB26 REST KLF7 ZBTB25 HSALNG0128208 VPS16 ZNF343 SNRPB PTPRA PCED1A C20orf141 ENSG00000241690 TMEM239 EBF4
GH20J002728 Enhancer 0.6 Ensembl ENCODE 19.9 +36.5 36510 2.4 SPI1 TCF12 TEAD3 CBFA2T3 EBF4 PCED1A VPS16 PTPRA LOC105372506 HSALNG0128208
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EBF4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EBF4

Top Transcription factor binding sites by QIAGEN in the EBF4 gene promoter:
  • AP-4
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • ISGF-3
  • LCR-F1
  • NF-Y
  • NF-YA
  • NF-YB

Genomic Locations for EBF4 Gene

Genomic Locations for EBF4 Gene
chr20:2,692,878-2,760,108
(GRCh38/hg38)
Size:
67,231 bases
Orientation:
Plus strand
chr20:2,673,524-2,740,754
(GRCh37/hg19)
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

No data available for DME Specific Peptides for EBF4 Gene

Domains & Families for EBF4 Gene

Gene Families for EBF4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for EBF4 Gene

Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
  • Cell surface receptor IPT/TIG
  • Transcription factor COE
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for EBF4 Gene

GenScript: Design optimal peptide antigens:
  • Olf-1/EBF-like 4 (COE4_HUMAN)
  • EBF4 protein (Q7Z5T1_HUMAN)
  • EBF4 protein (Q8WUY0_HUMAN)

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

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'.

Phenotypes From GWAS Catalog for EBF4 Gene

Gene Ontology (GO) - Molecular Function for EBF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IBA,IEA 21873635
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with EBF4: view

Phenotypes for EBF4 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EBF4

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 0

Gene Ontology (GO) - Cellular Components for EBF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
genes like me logo Genes that share ontologies with EBF4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for EBF4 Gene

Pathways & Interactions for EBF4 Gene

PathCards logo

SuperPathways for EBF4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EBF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IBA,IEA 21873635
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

Drugs & Compounds for EBF4 Gene

No Compound Related Data Available

Transcripts for EBF4 Gene

mRNA/cDNA for EBF4 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EBF4

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

Expression for EBF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for EBF4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 93.97 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EBF4 31 30
  • 93.63 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ebf4 17 31 30
  • 90.68 (n)
rat
(Rattus norvegicus)
Mammalia Ebf4 30
  • 89.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 88 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia EBF4 31
  • 85 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EBF4 31
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 95 (a)
ManyToMany
-- 31
  • 86 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii si:ch211-207n2.6 31
  • 64 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta kn 31
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-3 31
  • 57 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EBF4: view image

Paralogs for EBF4 Gene

Paralogs for EBF4 Gene

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

  • COE4_HUMAN
  • E9PEI2_HUMAN
  • Q7Z5T1_HUMAN
  • Q8WUY0_HUMAN
  • V9GYU8_HUMAN
genes like me logo Genes that share paralogs with EBF4: view

Variants for EBF4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EBF4 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
783856 Benign: not provided 2,705,712(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
783857 Benign: not provided 2,709,577(+) G/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for EBF4 Gene

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)

Additional Variant Information for EBF4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for EBF4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for EBF4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
gestational choriocarcinoma
  • gestational chorionepithelioma
- elite association - COSMIC cancer census association via MalaCards
Search EBF4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for EBF4

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

No data available for 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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4 54
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 54
  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 (The pharmacogenomics journal 2013) 41 54
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 54

Products for EBF4 Gene

Sources for EBF4 Gene