EBF3 early B-cell factor 3 [Homo sapiens] - Gene

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Summary

Official Symbol: EBF3provided by HGNC
Official Full Name: early B-cell factor 3provided by HGNC
Primary source: HGNC:19087
Locus tag: RP11-234G16.3
See related: Ensembl:ENSG00000108001; HPRD:16818; MIM:607407; Vega:OTTHUMG00000019265
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: COE3; OE-2; EBF-3; O/E-2
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]

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Genomic context

Location :: 10q26.3

Sequence :: Chromosome: 10; NC_000010.10 (131633547..131762091, complement)

See EBF3 in Epigenomics, MapViewer

Chromosome 10 - NC_000010.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

EBF3 tumor suppressor is epigenetically silenced and that it serves as an independent prognostic marker in gastric carcinoma.
Title: Aberrant DNA methylation and tumor suppressive activity of the EBF3 gene in gastric carcinoma.
Results verify IRX1, EBF3, SLC5A8, SEPT9, and FUSSEL18 as valid methylation markers in two separate sets of HNSCC specimens; also preliminarily show a trend between HPV16 positivity and target gene hypermethylation of IRX1, EBF3, SLC5A8, and SEPT9.
Title: HPV status-independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas.
Findings suggested that the transfection of EBF3 gene into HepG2 induced the cell proliferation from G1 phase to G2 phase by increasing the number of cells.
Title: [Construction of eukaryotic expression vector for EBF3 and EGFP fusion protein and its expression in HepG2 cells].
Frequent methylation of EBF3 gene is associated with head and neck squamous cell carcinoma
Title: Frequently methylated tumor suppressor genes in head and neck squamous cell carcinoma.
Expression of EBF3 resulted in cell cycle arrest and apoptosis. EBF3 regulates a transcriptional program underlying a putative tumor suppression pathway.
Title: An EBF3-mediated transcriptional program that induces cell cycle arrest and apoptosis.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:128985	BioGRID:116718	ZNF423		BioGRID	PubMed	Co-purification

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
multicellular organismal development	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: transcription factor COE3

Names: transcription factor COE3; olf-1/EBF-like 2

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030038.1 RefSeqGene

Range

5001..133596

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001005463.2 → NP_001005463.1 transcription factor COE3

Status: REVIEWED

Source sequence(s)

AA330620, AK055710, AK097335, AK098025, AL713797, BC130479

Consensus CDS

CCDS31314.1

UniProtKB/Swiss-Prot

Q9H4W6

Related

ENSP00000357637, OTTHUMP00000020743, ENST00000368648, OTTHUMT00000051016

Conserved Domains (2) summary

cd01175
Location:254 – 338
Blast Score: 439

IPT_COE; IPT domain of the COE family (Col/Olf-1/EBF) of non-basic, helix-loop-helix (HLH)-containing transcription factors. COE family proteins are all transcription factors and play an important role in variety of developmental processes. Mouse EBF is involved ...

cd11606
Location:35 – 247
Blast Score: 1141

COE_DBD; Colier/Olf/Early B-cell factor (EBF) DNA Binding Domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000010.10 Reference GRCh37.p5 Primary Assembly

Range

131633547..131762091, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000142.1 Alternate HuRef

Range

125212165..125349388, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL354950.8	CAI12791.1
		CAI12792.1
		CAI12793.1
genomic	AL354950.8	CAI12791.1
		CAI12792.1
		CAI12793.1
genomic	CH471066.2	EAW49159.1
		EAW49160.1
		EAW49161.1
mRNA	AA330620.1	None
mRNA	AK055710.1	None
mRNA	AK097335.1	None
mRNA	AK098025.1	None
mRNA	AL713797.1	None
mRNA	AL832828.1	CAH56225.1
mRNA	BC126130.1	AAI26131.1
mRNA	BC130479.1	AAI30480.1
other-genetic	HQ258299.1	ADR83053.1