EBF3 (EBF transcription factor 3)

2007-12-01  

Identity

HGNC
EBF3
LOCATION
10q26.3
LOCUSID
253738
ALIAS
COE3,EBF-3,HADDS,O/E-2,OE-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 253738
MIM: 607407
HGNC: 19087
Ensembl: ENSG00000108001

Variants:

dbSNP: 253738
ClinVar: 253738
TCGA: ENSG00000108001
COSMIC: EBF3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108001ENST00000355311Q9H4W6
ENSG00000108001ENST00000368648Q9H4W6
ENSG00000108001ENST00000440978H0Y3W9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
384795562024Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study.0
384795562024Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study.0
349994432022Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.2
353400432022An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.4
349994432022Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.2
353400432022An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.4
340507062021Clinical spectrum of individuals with de novo EBF3 variants or deletions.4
342568502021Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.11
340507062021Clinical spectrum of individuals with de novo EBF3 variants or deletions.4
342568502021Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.11
313830002019Characterisation of DNA methylation changes in EBF3 and TBC1D16 associated with tumour progression and metastasis in multiple cancer types.22
313830002019Characterisation of DNA methylation changes in EBF3 and TBC1D16 associated with tumour progression and metastasis in multiple cancer types.22
297502392018MiR-23b-3p induces the proliferation and metastasis of esophageal squamous cell carcinomas cells through the inhibition of EBF3.12
299134422018Associations of Pulmonary Fibrosis with Peripheral Blood Th1/Th2 Cell Imbalance and EBF3 Gene Methylation in Uygur Pigeon Breeder's Lung Patients.6
297502392018MiR-23b-3p induces the proliferation and metastasis of esophageal squamous cell carcinomas cells through the inhibition of EBF3.12

Citation

Dessen P

EBF3 (EBF transcription factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49861/haematological-explorer/gene-fusions-explorer/welcome