• Gene id: 57593

Gene Summary

• Gene Symbol: EBF4   Gene   UCSC   Ensembl
• Aliases: COE4, O/E-4
• Gene name: EBF family member 4
• Alternate names: transcription factor COE4, OE-4, early B cell factor 4, olf-1/EBF-like 4,
• Gene location: 20p13 (2692779: 2760107)     Exons: 19     NC_000020.11
• Gene summary(Entrez): 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]
• OMIM: 609935

Protein Summary

• Protein general information: Q9BQW3  
  • Name: Transcription factor COE4 (Early B cell factor 4) (EBF 4) (Olf 1/EBF like 4) (O/E 4) (OE 4)
  • Length: 602  
  • Mass: 64473
• Sequence:

  MFPAQDALPRSGLNLKEEPLLPAGLGSVRSWMQGAGILDASTAAQSGVGLARAHFEKQPPSNLRKSNFFHFVLAM
  YDRQGQPVEVERTAFIDFVEKDREPGAEKTNNGIHYRLRLVYNNGLRTEQDLYVRLIDSMSKQAIIYEGQDKNPE
  MCRVLLTHEIMCSRCCDRKSCGNRNETPSDPVIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTTVSVDGH
  VLAVSDNMFVHNNSKHGRRARRLDPSEAATPCIKAISPGEGWTTGGATVIVIGDNFFDGLQVVFGNVLVWSELIT
  PHAIRVQTPPRHIPGVVEVTLSYKSKQFCKGCPGRFVYTALNEPTIDYGFQRLQKVIPRHPGDPERLPKEVLLKR
  AADLAEALYGVPGSNQELLLKRAADVAEALYSTPRAPGPLAPLAPSHPHPAVVGINAFSSPLAIAVGDATPGPEP
  GYARSCSSASPRGFAPSPGSQQSGYGGGLGAGLGGYGAPGVAGLGVPGSPSFLNGSTATSPFAIMPSSPPLAAAS
  SMSLPAAAPTTSVFSFSPVNMISAVKQRSAFAPVLRPPSSPPQACPRAHGEGLPDQSFEDSDKFHSPARGLQGLA
  YS

• Structural information:
  • Protein Domains: (256..33-)
    (/note="IPT/TIG"-)
  • Interpro: IPR032200  IPR038173  IPR032201  IPR038006  IPR036638   IPR013783  IPR014756  IPR002909  IPR003523  IPR018350  
  • Prosite: PS01345
  • CDD: cd11606 cd01175
  • STRING: ENSP00000370022
• Other Databases: GeneCards:  EBF4  Malacards:  EBF4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R