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
185594912008Frequently methylated tumor suppressor genes in head and neck squamous cell carcinoma.50
200299862010HPV 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.19
170185992006An EBF3-mediated transcriptional program that induces cell cycle arrest and apoptosis.0
188450772008[Construction of eukaryotic expression vector for EBF3 and EGFP fusion protein and its expression in HepG2 cells].0
213873042012Aberrant DNA methylation and tumor suppressive activity of the EBF3 gene in gastric carcinoma.0
256091582015Early B-cell factor 3 (EBF3) is a novel tumor suppressor gene with promoter hypermethylation in pediatric acute myeloid leukemia.0
280173702017De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.0
280173722017A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.0
280173732017Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.0
280308322017Genome-wide methylation sequencing of paired primary and metastatic cell lines identifies common DNA methylation changes and a role for EBF3 as a candidate epigenetic driver of melanoma metastasis.0

Citation

Dessen P

EBF3 (EBF transcription factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49861/ebf3