Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64641
Gene name Gene Name - the full gene name approved by the HGNC.	EBF transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EBF2
Synonyms (NCBI Gene) Gene synonyms aliases	COE2, EBF-2, O/E-3, OE-3
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8p21.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

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

Show/Hide all(22)

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
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
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:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	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	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	26844207

MIM	HGNC	e!Ensembl
609934	19090	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

Interactions

View interactions

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast cancer	Breast cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes, Triglyceride levels in non-type 2 diabetes	N/A	N/A	GWAS
Hypertension	Hypertension, Hypertension (confirmatory factor analysis Factor 12)	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Restless Legs Syndrome	Restless legs syndrome	N/A	N/A	GWAS
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abdominal Injuries	Associate	38477908
Breast Neoplasms	Associate	36344993
Carcinoma Pancreatic Ductal	Inhibit	38015024
Hernia Inguinal	Associate	37082733
Hip Fractures	Associate	34946961
Inflammation	Associate	29749135
Intestinal Pseudo Obstruction	Associate	38477908
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	20184741
Mucocutaneous Lymph Node Syndrome	Associate	29749135
Neoplasms Adipose Tissue	Associate	37889180
Osteosarcoma	Associate	19671856, 30993113
Pancreatic Neoplasms	Inhibit	38015024
Prostatic Neoplasms	Associate	28380430

EBF2 (EBF transcription factor 2)