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(17)

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

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 Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	29059683
Prostate cancer	Malignant neoplasm of prostate, Prostate carcinoma	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	23535732, 29892016

Show/Hide Unknown Diseases (8)

Disease term	Disease name	Evidence	Source
Unknown
Metabolic Syndrome	Metabolic Syndrome		GWAS
Breast cancer	Breast cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Diabetes	Diabetes		GWAS
Mental Depression	Mental Depression		GWAS
Hypertension	Hypertension		GWAS
Uterine Fibroids	Uterine Fibroids		GWAS
Insomnia	Insomnia		GWAS
Restless Legs Syndrome	Restless Legs Syndrome		GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
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)