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EBF4 EBF family member 4 [ Homo sapiens (human) ]

Gene ID: 57593, updated on 28-Oct-2024

Summary

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Official Symbol
EBF4provided by HGNC
Official Full Name
EBF family member 4provided by HGNC
Primary source
HGNC:HGNC:29278
See related
Ensembl:ENSG00000088881 MIM:609935; AllianceGenome:HGNC:29278
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
COE4; OE-4; O/E-4
Summary
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]
Expression
Broad expression in prostate (RPKM 9.6), endometrium (RPKM 8.9) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See EBF4 in Genome Data Viewer
Location:
20p13
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (2692780..2760108)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (2723172..2790570)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2673426..2740754)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2645500-2646285 Neighboring gene uncharacterized LOC105372507 Neighboring gene IDH3B divergent transcript Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2674597-2675581 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2678055-2678598 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2681405-2682133 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr20:2682134-2682861 Neighboring gene VISTA enhancer hs632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12605 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2731029-2731709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:2731778-2732289 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2739980-2740630 Neighboring gene Sharpr-MPRA regulatory region 9456 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17471 Neighboring gene ribosomal protein L19 pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2778855-2779842 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2779843-2780830 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:2780831-2781816 Neighboring gene carboxypeptidase X, M14 family member 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Early B cell factor 4 modulates FAS-mediated apoptosis and promotes cytotoxic function in human immune cells. Kubo S, et al. Proc Natl Acad Sci U S A, 2022 Aug 16. PMID 35939714, Free PMC Article
  2. Cloning of a novel Olf-1/EBF-like gene, O/E-4, by degenerate oligo-based direct selection. Wang SS, et al. Mol Cell Neurosci, 2002 Jul. PMID 12139918
  3. Biochemical and computational analysis of LNX1 interacting proteins. Wolting CD, et al. PLoS One, 2011. PMID 22087225, Free PMC Article
  4. A systematic screen for CDK4/6 substrates links FOXM1 phosphorylation to senescence suppression in cancer cells. Anders L, et al. Cancer Cell, 2011 Nov 15. PMID 22094256, Free PMC Article
  5. 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. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Early B cell factor 4 modulates FAS-mediated apoptosis and promotes cytotoxic function in human immune cells.
    Title: Early B cell factor 4 modulates FAS-mediated apoptosis and promotes cytotoxic function in human immune cells.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1442

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
  
enables DNA-binding transcription factor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in T cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in chromatin ISA
Inferred from Sequence Alignment
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transcription factor COE4
Names
early B cell factor 4
olf-1/EBF-like 4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001110514.2 → NP_001103984.2  transcription factor COE4 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AL035460
    Consensus CDS
    CCDS46573.1
    Related
    ENSP00000370022.4, ENST00000380648.9

  2. NM_001395167.1 → NP_001382096.1  transcription factor COE4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL035460
    Consensus CDS
    CCDS93003.1
    UniProtKB/Swiss-Prot
    Q1MTP7, Q5JY53, Q9BQW3, Q9NUB6, Q9P2A6
    UniProtKB/TrEMBL
    E9PEI2
    Related
    ENSP00000477023.1, ENST00000609451.6
    Conserved Domains (4) summary
    PHA03247
    Location:411 → 573
    PHA03247; large tegument protein UL36; Provisional
    cd01175
    Location:256 → 340
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    pfam16422
    Location:22 → 248
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:341 → 384
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain

  3. NM_001395168.1 → NP_001382097.1  transcription factor COE4 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL035460
    UniProtKB/TrEMBL
    E9PEI2
    Conserved Domains (3) summary
    PHA03247
    Location:334 → 496
    PHA03247; large tegument protein UL36; Provisional
    cd01175
    Location:179 → 263
    IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...
    cl17007
    Location:86 → 171
    COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain

RNA

  1. NR_138537.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AB037863, AI859365, AL035460, BC037555
    Related
    ENST00000449079.7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    2692780..2760108
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723600.2 → XP_006723663.2  transcription factor COE4 isoform X2

  2. XM_017027984.2 → XP_016883473.1  transcription factor COE4 isoform X1

    UniProtKB/TrEMBL
    E9PEI2

  3. XM_047440335.1 → XP_047296291.1  transcription factor COE4 isoform X4

  4. XM_017027985.1 → XP_016883474.1  transcription factor COE4 isoform X3

    Conserved Domains (2) summary
    pfam16423
    Location:108 → 151
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
    cl15674
    Location:23 → 107
    IPT; Immunoglobulin-like fold, Plexins, Transcription factors (IPT). IPTs are also known as Transcription factor ImmunoGlobin (TIG) domains. They are present in intracellular transcription factors, cell surface receptors (such as plexins and scatter factor ...

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    2723172..2790570
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323774.1 → XP_054179749.1  transcription factor COE4 isoform X2

  2. XM_054323773.1 → XP_054179748.1  transcription factor COE4 isoform X1

  3. XM_054323776.1 → XP_054179751.1  transcription factor COE4 isoform X4

  4. XM_054323775.1 → XP_054179750.1  transcription factor COE4 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_020833.2: Suppressed sequence

    Description
    NM_020833.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BQW3.2 GenPept UniProtKB/Swiss-Prot:Q9BQW3

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