EBF3 - EBF transcription factor 3 Gene

Also Known as COE3; OE-2; EBF-3; HADDS; O/E-2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 253738

About EBF3

Cytogenetic location: 10q26.3 Genomic coordinates (GRCh38): 10:129,835,233-129,964,274 (from NCBI)

This gene has 5 transcripts (splice variants), 218 orthologues, 3 paralogues and is associated with 2 phenotypes. Biased expression in fat (RPKM 8.2), lymph node (RPKM 3.7) and 12 other tissues.

Summary

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 protein inhibits cell survival through the regulation of genes involved in cell cycle arrest and Apoptosis, and aberrant methylation or deletion of this gene may play a role in multiple malignancies including glioblastoma multiforme and gastric carcinoma. [provided by RefSeq, Sep 2011]

EBF3 Products (7)

mRNA	Protein	Name
NM_001005463.3	NP_001005463.1	transcription factor COE3 isoform 6
NM_001375379.1	NP_001362308.1	transcription factor COE3 isoform 2
NM_001375380.1	NP_001362309.1	transcription factor COE3 isoform 1
NM_001375389.1	NP_001362318.1	transcription factor COE3 isoform 3
NM_001375390.1	NP_001362319.1	transcription factor COE3 isoform 4
NM_001375391.1	NP_001362320.1	transcription factor COE3 isoform 5
NM_001375392.1	NP_001362321.1	transcription factor COE3 isoform 7

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	28017370	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in nucleus	IDA IDA: Inferred from direct assay	28017373	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EBF3 Protein Structure

TIG

0
100
200
300
400
500
596 a.a.

Protein Preferred Names	Protein Names
transcription factor COE3	early B cell factor 3

Related Diseases

Diseases	Alias
Hypotonia, Ataxia, And Delayed Development Syndrome	HADDS
Neurogenic Bladder	Neurogenic Dysfunction Of The Urinary Bladder Neurogenic Urinary Bladder Disorder Neuropathic Bladder Bladder Neurogenic Urinary Bladder, Neurogenic Neurogenic Urinary Bladder
Vesicoureteral Reflux	Vesico-Ureteral Reflux
Urinary Tract Infection	Urinary Tract Infections Uti Urinary Tract Infection Nos Uti - [Urinary Tract Infection] Uti Nos - [Urinary Tract Infection Nos] Urosepsis Nos E Coli Uti E Coli Urinary Tract Infection Escherichia Coli Uti
Rare Disease With Pierre Robin Syndrome
Pierre Robin Syndrome	Pierre Robin Sequence Glossoptosis, Micrognathia, And Cleft Palate Pierre Robin Syndrome Skeletal Dysplasia Polydactyly Pierre-Robin Syndrome Isolated Pierre Robin Sequence Isolated Pierre-Robin Syndrome PRBNS Robin Sequence Robin Syndrome Isolated Pierre Robin Syndrome
Urinary Tract Infections, Recurrent	Recurrent Urinary Tract Infections Urinary Tract Infections, Recurrent, Susceptibility To Urinary Tract Infection Recurrent Recurrent Urinary Tract Infection
Hypotonia
Constipation
Renal Tubular Dysgenesis	Primitive Renal Tubule Syndrome RTD Renal Tubular Dysgenesis Of Genetic Origin Allanson Pantzar Mcleod Syndrome Renotubular Dysgenesis Dysgenesis, Renal Tubular Primitive Kidney Tubule Syndrome
Moebius Syndrome	Mobius Syndrome Moebius Sequence Oromandibular-Limb Hypogenesis Spectrum Congenital Facial Diplegia MBS Moebius Congenital Oculofacial Paralysis Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves Congenital Facial Diplegia Syndrome Congenital Oculofacial Paralysis Congenital Ophthalmoplegia And Facial Paresis Moebius Spectrum Möbius Sequence Möbius Syndrome Mobius Ii Syndrome
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Proud Syndrome Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Acc With Abnormal Genitalia Proud-Levine-Carpenter Syndrome Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome Corpus Callosum Agenesis With Abnormal Genitalia New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum Proud Levine Carpenter Syndrome Acc-Abnormal Genitalia Syndrome Agenesis Of The Corpus Callosum, With Abnormal Genitalia ACCAG Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia Congenital Neurologic Anomalies
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	17-Ksr Deficiency Neutral 17-Beta-Hydroxysteroid Oxidoreductase Deficiency Pseudohermaphroditism, Male, With Gynecomastia 17-Beta Hydroxysteroid Dehydrogenase 3 Deficiency Testosterone 17-Beta-Dehydrogenase Deficiency 17-Ketosteroid Reductase Deficiency Of Testis 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency 17-Ketoreductase Deficiency 17-Ketosteroidreductase Deficiency 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency Male Pseudohermaphroditism With Gynecomastia 17 Alpha Ksr Deficiency 17 Alpha Ketosteroid Reductase Deficiency Of Testis 17 Beta Hydroxysteroid Dehydrogenase Iii Deficiency Male Pseudoherma-Phroditism With Gynecomastia Neutral 17 Beta Hydroxysteroid Oxidoreductase Deficiency Male Pseudohermaphrodism With Gynecomastia MPH 17-Hydroxysteroid Dehydrogenase Deficiency
Bird Fancier'S Lung	Bird Fancier Lung Pigeon Breeder'S Lung Avian Hypersensitivity Pneumonitis Bird Breeder'S Lung Bird-Fancier'S Lung Bird-Fanciers' Lung Poultry Worker'S Lung Pigeon-Breeder Lung Disease Pigeon Breeders Lung Avian Protein Hypersensitivity Bird Breeders' Disease Bird Breeders' Lung Bird Fanciers' Lung Bird Fanciers' Disease Bfl - [Bird Fancier Lung] Fanciers' Disease Fanciers' Lung
Hypermobility Of Coccyx	Coccygeal Hypermobility Syndrome Hypermobility Of The Coccyx
Anus Benign Neoplasm	Anal Neoplasm Anal Tumors Neoplasm Of Anus Anus Neoplasms
Urofacial Syndrome 1	Urofacial Syndrome Ochoa Syndrome Hydronephrosis With Peculiar Facial Expression Ufs Inverted Smile And Occult Neuropathic Bladder Partial Facial Palsy With Urinary Abnormalities UFS1 Urofacial Ochoa'S Syndrome Urofacial Syndrome Type 1 Facial Palsy, Partial, With Urinary Abnormalities Hydronephrosis-Inverted Smile Inverted Smile-Neurogenic Bladder Hydronephrosis-Inverted Smile Syndrome Inverted Smile-Neurogenic Bladder Syndrome Partial Facial Palsy Partial With Urinary Abnormalities Urologic Diseases

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04126	EBF3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08139	MAPRE3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20271	Ebf3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20568	Mapre3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26779	Ebf3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	EBF3	MGD	MGI:894289
Bos taurus	EBF3	VGNC	VGNC:97263
Rattus norvegicus	EBF3	RGD	RGD:1304956
Canis familiaris	EBF3	VGNC	VGNC:49730
Macaca mulatta	EBF3	VGNC	VGNC:71862
Felis catus	EBF3	VGNC	VGNC:97407
Others	EBF3	NCBI