• Gene id: 253738

Gene Summary

• Gene Symbol: EBF3   Gene   UCSC   Ensembl
• Aliases: COE3, EBF-3, HADDS, O/E-2, OE-2
• Gene name: EBF transcription factor 3
• Alternate names: transcription factor COE3, early B cell factor 3, olf-1/EBF-like 2,
• Gene location: 10q26.3 (117907225: 118317675)     Exons: 8     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the early B-cell factor (EBF) family of DNA binding transcription factors. EBF proteins are involved in B-cell differentiation, bone development and neurogenesis, and may also function as tumor suppressors. The encoded protei
• OMIM: 607407

Protein Summary

• Protein general information: Q9H4W6  
  • Name: Transcription factor COE3 (Early B cell factor 3) (EBF 3) (Olf 1/EBF like 2) (O/E 2) (OE 2)
  • Length: 596  
  • Mass: 64864
  • Tissue specificity: Expressed in brain. {ECO
• Sequence:

  MFGIQENIPRGGTTMKEEPLGSGMNPVRSWMHTAGVVDANTAAQSGVGLARAHFEKQPPSNLRKSNFFHFVLALY
  DRQGQPVEIERTAFVDFVEKEKEPNNEKTNNGIHYKLQLLYSNGVRTEQDLYVRLIDSMTKQAIVYEGQDKNPEM
  CRVLLTHEIMCSRCCDKKSCGNRNETPSDPVIIDRFFLKFFLKCNQNCLKNAGNPRDMRRFQVVVSTTVNVDGHV
  LAVSDNMFVHNNSKHGRRARRLDPSEGTAPSYLENATPCIKAISPSEGWTTGGATVIIIGDNFFDGLQVVFGTML
  VWSELITPHAIRVQTPPRHIPGVVEVTLSYKSKQFCKGAPGRFVYTALNEPTIDYGFQRLQKVIPRHPGDPERLP
  KEVLLKRAADLVEALYGMPHNNQEIILKRAADIAEALYSVPRNHNQIPTLGNNPAHTGMMGVNSFSSQLAVNVSE
  TSQANDQVGYSRNTSSVSPRGYVPSSTPQQSNYNTVSTSMNGYGSGAMASLGVPGSPGFLNGSSANSPYGIVPSS
  PTMAASSVTLPSNCSSTHGIFSFSPANVISAVKQKSAFAPVVRPQASPPPSCTSANGNGLQAMSGLVVPPM

• Structural information:
  • Protein Domains: (263..34-)
    (/note="IPT/TIG"-)
  • Interpro: IPR032200  IPR038173  IPR032201  IPR038006  IPR036638   IPR013783  IPR014756  IPR002909  IPR003523  IPR018350  
  • Prosite: PS01345
  • CDD: cd11606 cd01175
  • PDB: 3MUJ 3N50
  • PDBsum: 3MUJ 3N50
  • STRING: ENSP00000357637
• Other Databases: GeneCards:  EBF3  Malacards:  EBF3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
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:0007275	multicellular organism development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Hypotonia, ataxia, and delayed development syndrome	KEGG:H02378
Hypotonia, ataxia, and delayed development syndrome	KEGG:H02378
Cryptorchidism	MIK: 28606200
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