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

Gene ID: 57593, updated on 18-Aug-2020

Summary

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
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; 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

Genomic context

See EBF4 in Genome Data Viewer
Location:
20p13
Exon count:
19
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (2692780..2760108)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (2673524..2740754)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372507 Neighboring gene isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta Neighboring gene uncharacterized LOC105372506 Neighboring gene VISTA enhancer hs632 Neighboring gene ribosomal protein L19 pseudogene 1 Neighboring gene carboxypeptidase X, M14 family member 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1442

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein dimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001110514.1NP_001103984.1  transcription factor COE4

    Status: VALIDATED

    Source sequence(s)
    AB037863, AL035460, BC037555, BC054347
    Consensus CDS
    CCDS46573.1
    UniProtKB/Swiss-Prot
    Q9BQW3
    UniProtKB/TrEMBL
    E9PEI2, Q7Z5T1
    Related
    ENSP00000370022.4, ENST00000380648.8
    Conserved Domains (3) summary
    cd01175
    Location:252336
    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:18244
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:337380
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain

RNA

  1. NR_138537.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB037863, AI859365, AL035460, BC037555
    Related
    ENST00000449079.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

    Related
    ENSP00000477023.1, ENST00000609451.5
    Conserved Domains (3) summary
    cd01175
    Location:225309
    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:1217
    COE1_DBD; Transcription factor COE1 DNA-binding domain
    pfam16423
    Location:310353
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
  2. XM_017027983.1XP_016883472.1  transcription factor COE4 isoform X1

  3. XM_017027984.1XP_016883473.1  transcription factor COE4 isoform X3

  4. XM_017027985.1XP_016883474.1  transcription factor COE4 isoform X4

    Conserved Domains (2) summary
    pfam16423
    Location:108151
    COE1_HLH; Transcription factor COE1 helix-loop-helix domain
    cl15674
    Location:23107
    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 ...

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.
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