EBF2 (EBF transcription factor 2)

Gene

• Entrez ID: 64641
• Gene name: EBF transcription factor 2
• Gene symbol: EBF2
• Synonyms: COE2, EBF-2, O/E-3, OE-3
• Chromosome: 8
• Chromosome location: 8p21.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1981810	hsa-miR-1206	CLIP-seq
MIRT1981811	hsa-miR-299-3p	CLIP-seq
MIRT1981812	hsa-miR-3607-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001709	Process	Cell fate determination	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0035563	Process	Positive regulation of chromatin binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0050873	Process	Brown fat cell differentiation	IEA
GO:0060612	Process	Adipose tissue development	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	26844207

Other IDs

• MIM: 609934
• HGNC: 19090
• e!Ensembl: ENSG00000221818

Protein

• UniProt ID: Q9HAK2
• Protein name: Transcription factor COE2 (Early B-cell factor 2) (EBF-2)
• Protein function: Transcription factor that, in osteoblasts, activates the decoy receptor for RANKL, TNFRSF11B, which in turn regulates osteoclast differentiation. Acts in synergy with the Wnt-responsive LEF1/CTNNB1 pathway. Recognizes variations of the palindrom
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16422	COE1_DBD	16 → 246	Transcription factor COE1 DNA-binding domain	Domain
  PF01833	TIG	253 → 335	IPT/TIG domain	Domain
  PF16423	COE1_HLH	338 → 381	Transcription factor COE1 helix-loop-helix domain	Domain

• Sequence:

  MFGIQDTLGRGPTLKEKSLGAEMDSVRSWVRNVGVVDANVAAQSGVALSRAHFEKQPPSN
  LRKSNFFHFVLALYDRQGQPVEIERTAFVDFVENDKEQGNEKTNNGTHYKLQLLYSNGVR
  TEQDLYVRLIDSVTKQPIAYEGQNKNPEMCRVLLTHEVMCSRCCEKKSCGNRNETPSDPV
  IIDRFFLKFFLKCNQNCLKTAGNPRDMRRFQVVLSTTVNVDGHVLAVSDNMFVHNNSKHG
  RRARRLDPSEATPCIKAISPSEGWTTGGAMVIIIGDNFFDGLQVVFGTMLVWSELITPHA
  IRVQTPPRHIPGVVEVTLSYKSKQFCKGAPGRFIYTALNEPTIDYGFQRLQKVIPRHPGD
  PERLAKEMLLKRAADLVEALYGTPHNNQDIILKRAADIAEALYSVPRNPSQLPALSSSPA
  HSGMMGINSYGSQLGVSISESTQGNNQGYIRNTSSISPRGYSSSSTPQQSNYSTSSNSMN
  GYSNVPMANLGVPGSPGFLNGSPTGSPYGIMSSSPTVGSSSTSSILPFSSSVFPAVKQKS
  AFAPVIRPQGSPSPACSSGNGNGFRAMTGLVVPPM

• Sequence length: 575

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Prostate cancer	Malignant neoplasm of prostate, Prostate carcinoma	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	23535732, 29892016, 23535732

Unknown
Disease name	Disease term	dbSNP ID	References
Cardiovascular diseases	Cardiovascular Diseases		30595370
Dupuytren contracture	Dupuytren Contracture		28886342
Imperforate anus	Anus, Imperforate		29704291