EBF2 EBF transcription factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EBF2provided by HGNC
Official Full Name: EBF transcription factor 2provided by HGNC
Primary source: HGNC:HGNC:19090
See related: Ensembl:ENSG00000221818 MIM:609934; AllianceGenome:HGNC:19090
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: COE2; OE-3; EBF-2; O/E-3
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 processes. Studies in mouse suggest that this gene may be involved in the differentiation of osteoblasts. [provided by RefSeq, Oct 2011]
Expression: Biased expression in fat (RPKM 8.6), heart (RPKM 4.4) and 7 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.2

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (25841725..26045413, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (26116725..26320915, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (25699241..25902929, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN.
Title: EBF2 Links KMT2D-Mediated H3K4me1 to Suppress Pancreatic Cancer Progression via Upregulating KLLN.
research indicated that downexpression of miR-182-3p in Osteosarcoma (OS) cells results in overexpression of EBF2 and promotes the progression of OS.
Title: Potential Regulatory Effects of miR-182-3p in Osteosarcoma via Targeting EBF2.
Missense mutation in EBF2 gene is associated with imperforate anus.
Title: A missense mutation in EBF2 was segregated with imperforate anus in a family across three generations.
data indicated that miR-204-5p is an anti-oncogenic miRNA in osteosarcoma which functions through inhibiting oncogenic transcription factor EBF2. These results provided new therapeutic targets for metastatic osteosarcoma and insights into molecular regulation of EBF2.
Title: MiR-204-5p promotes apoptosis and inhibits migration of osteosarcoma via targeting EBF2.
EBF2 gene variants can contribute to KD [ Kawasaki disease]in the Korean population.
Title: Variants in the Gene EBF2 Are Associated with Kawasaki Disease in a Korean Population.
Novel inguinal hernia susceptibility genes are identified as EFEMP1, WT1, EBF2 and ADAMTS6.
Title: A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia.
Blnc1 forms a ribonucleoprotein complex with transcription factor EBF2 to stimulate the thermogenic gene program. Further, Blnc1 itself is a target of EBF2, thereby forming a feedforward regulatory loop to drive adipogenesis toward thermogenic phenotype.
Title: A long noncoding RNA transcriptional regulatory circuit drives thermogenic adipocyte differentiation.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-147617 (e-PCR)
- UniSTS:172845

STS-T69732 (e-PCR)
- UniSTS:47149

PMC156606P1 (e-PCR)
- UniSTS:271408

SHGC-153401 (e-PCR)
- UniSTS:177723

NoName (e-PCR)
- UniSTS:489020

EBF2__6165 (e-PCR)
- UniSTS:463976

SHGC-146658 (e-PCR)
- UniSTS:172651

SHGC-132170 (e-PCR)
- UniSTS:184691

D8S2100 (e-PCR)
- UniSTS:10374

NoName (e-PCR)
- UniSTS:481972

SHGC-154399 (e-PCR)
- UniSTS:184760

SHGC-147075 (e-PCR)
- UniSTS:172744

SHGC-105000 (e-PCR)
- UniSTS:173809

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adipose tissue development	IEA Inferred from Electronic Annotation more info
involved_in brown fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cell fate determination	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transcription factor COE2

Names: Collier, Olf and EBF 2; Collier, Olf and EBF transcription factor 2; OLF-1/EBF-LIKE 3; early B cell factor 2; metencephalon-mesencephalnon-olfactory transcription factor 1

NCBI Reference Sequences (RefSeq)

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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_030344.1 RefSeqGene

Range

4712..208400

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022659.4 → NP_073150.2 transcription factor COE2

See identical proteins and their annotated locations for NP_073150.2

Status: REVIEWED

Source sequence(s)

AC023566, AC090103, AI457889, AK021562, AK093878, AK304372, BC137106, BQ878633, BY798905

Consensus CDS

CCDS43726.1

UniProtKB/Swiss-Prot

A0PJM4, A6NMF7, F5H645, Q66VZ3, Q6DK36, Q6IS86, Q6ISA4, Q9HAK2

Related

ENSP00000430241.1, ENST00000520164.6

Conserved Domains (3) summary

cd01175
Location:253 → 337

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 ...

pfam16422
Location:20 → 246

COE1_DBD; Transcription factor COE1 DNA-binding domain

pfam16423
Location:338 → 381

COE1_HLH; Transcription factor COE1 helix-loop-helix domain