• Gene id: 64641

Gene Summary

• Gene Symbol: EBF2   Gene   UCSC   Ensembl
• Aliases: COE2, EBF-2, O/E-3, OE-3
• Gene name: early B cell factor 2
• Alternate names: transcription factor COE2, Collier, Olf and EBF 2, OLF-1/EBF-LIKE 3, metencephalon-mesencephalnon-olfactory transcription factor 1,
• Gene location: 8p21.2 (916692: 921014)     Exons: 5     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene belongs to the COE (Collier/Olf/EBF) family of non-basic, helix-loop-helix transcription factors that have a well conserved DNA binding domain. The COE family proteins play an important role in variety of developmental pro
• OMIM: 609934

Protein Summary

• Protein general information: Q9HAK2  
  • Name: Transcription factor COE2 (Early B cell factor 2) (EBF 2)
  • Length: 575  
  • Mass: 62,650
• Sequence:

  MFGIQDTLGRGPTLKEKSLGAEMDSVRSWVRNVGVVDANVAAQSGVALSRAHFEKQPPSNLRKSNFFHFVLALYD
  RQGQPVEIERTAFVDFVENDKEQGNEKTNNGTHYKLQLLYSNGVRTEQDLYVRLIDSVTKQPIAYEGQNKNPEMC
  RVLLTHEVMCSRCCEKKSCGNRNETPSDPVIIDRFFLKFFLKCNQNCLKTAGNPRDMRRFQVVLSTTVNVDGHVL
  AVSDNMFVHNNSKHGRRARRLDPSEATPCIKAISPSEGWTTGGAMVIIIGDNFFDGLQVVFGTMLVWSELITPHA
  IRVQTPPRHIPGVVEVTLSYKSKQFCKGAPGRFIYTALNEPTIDYGFQRLQKVIPRHPGDPERLAKEMLLKRAAD
  LVEALYGTPHNNQDIILKRAADIAEALYSVPRNPSQLPALSSSPAHSGMMGINSYGSQLGVSISESTQGNNQGYI
  RNTSSISPRGYSSSSTPQQSNYSTSSNSMNGYSNVPMANLGVPGSPGFLNGSPTGSPYGIMSSSPTVGSSSTSSI
  LPFSSSVFPAVKQKSAFAPVIRPQGSPSPACSSGNGNGFRAMTGLVVPPM

• Structural information:
  • Protein Domains: IPT/TIG. (253-336)
  • Interpro: IPR032200  IPR038173  IPR032201  IPR038006  IPR036638   IPR013783  IPR014756  IPR002909  IPR003523  IPR018350  
  • Prosite: PS01345
  • CDD: cd01175
  • STRING: ENSP00000430241
• Other Databases: GeneCards:  EBF2  Malacards:  EBF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IBA	molecular function
GO:0001709	cell fate determination	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0035563	positive regulation of chromatin binding	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0000978	RNA polymerase II core promoter proximal region sequence-specific DNA binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IEA	molecular function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IBA	molecular function
GO:0001709	cell fate determination	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0035563	positive regulation of chromatin binding	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IBA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0050873	brown fat cell differentiation	IEA	biological process
GO:0060612	adipose tissue development	IEA	biological process
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IBA	biological process

Diseases

Associated diseases	References
Obesity	GAD: 20734064
Male factor infertility	MIK: 16423815
Normosmic hypogonadotropic hypogonadism	MIK: 16423815
Hypogonadotropic hypogonadism	MIK: 16423815
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16423815	Normosmic hypogonadotropic hypogonadism	KAL1 ((del1956C) in exon 12, 191 (Arg191X))	Brazili an	17 (12 Kallmann syndrome (KS), 5 normosmic hypogonadotropic hypogonadism (nHH) )	Male infertility	KAL-1 NELF and EBF2
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R