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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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EBF1
EBF transcription factor 1
Chromosome 5 · 5q33.3
NCBI Gene: 1879Ensembl: ENSG00000164330.19HGNC: HGNC:3126UniProt: B4E2U8
97PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA polymerase II cis-regulatory region sequence-specific DNA bindingregulation of transcription by RNA polymerase IIDNA-binding transcription factor activity, RNA polymerase II-specificAbnormality of the skeletal systembreast carcinomadiffuse large B-cell lymphomahypertension
✦AI Summary

EBF1 (EBF transcription factor 1) is a DNA-binding transcription factor that regulates gene expression across multiple biological contexts. In B cell development, EBF1 plays a critical role in lineage commitment and differentiation, with reciprocal changes in EBF1 expression marking the transition between pre-BCR-dependent and pre-BCR-independent proliferative phases 1. EBF1 is a lineage-specification gene whose transcription is regulated by the cohesin complex member STAG2; loss of Stag2 decreases EBF1 chr5 accessibility and transcription, impairing B cell lineage commitment 2. Beyond hematopoiesis, EBF1 functions as a transcriptional regulator of adipocyte morphology and brown adipogenesis, with genetic variation in EBF1 identified as a locus associated with epicardial and pericardial adiposity and related cardiovascular disease risk 3. EBF1 is also expressed in dermal papilla fibroblasts, where it activates regulatory networks controlling hair morphogenesis in response to Hedgehog signaling 4. In disease contexts, EBF1 deletions occur as secondary copy number alterations in B-cell precursor acute lymphoblastic leukemia, though individual EBF1 deletions show limited independent prognostic significance compared to primary chr5 abnormalities 5. Additionally, EBF1+ fibroblasts represent a distinct population identified during postnatal liver development 6.

Sources cited
1
EBF1 expression changes reciprocally with YBX3 during B cell development, defining pre-BCR-dependent proliferative phases
PMID: 34824268
2
STAG2 regulates chromatin accessibility and transcription of lineage-specification genes including Ebf1, affecting B cell lineage commitment
PMID: 31495782
3
EBF1 is a transcriptional regulator of adipocyte morphology and brown adipogenesis, with genetic loci implicating it in epicardial/pericardial adiposity and cardiovascular disease
PMID: 38477908
4
EBF1 is activated in dermal papilla fibroblasts by Hedgehog signaling to regulate hair morphogenesis
PMID: 35777353
5
EBF1 deletions occur as secondary copy number alterations in B-cell precursor ALL but show limited independent prognostic significance
PMID: 34657128
6
EBF1+ fibroblasts represent a distinct cell population identified during postnatal liver development
PMID: 37783617
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.53Moderate
breast carcinomaOpen Targets
0.52Moderate
diffuse large B-cell lymphomaOpen Targets
0.51Moderate
hypertensionOpen Targets
0.50Moderate
neurodegenerative diseaseOpen Targets
0.49Moderate
androgenetic alopeciaOpen Targets
0.49Moderate
breast cancerOpen Targets
0.47Moderate
atrial fibrillationOpen Targets
0.47Moderate
Varicose veinsOpen Targets
0.46Moderate
cardiovascular diseaseOpen Targets
0.45Moderate
essential hypertensionOpen Targets
0.45Moderate
psoriasisOpen Targets
0.42Moderate
obesityOpen Targets
0.42Moderate
atrial flutterOpen Targets
0.40Weak
Increased blood pressureOpen Targets
0.38Weak
risk-taking behaviourOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EP300Protein interaction100%CD19Protein interaction100%PPARGProtein interaction100%LDB1Protein interaction100%LOC102723407Protein interaction97%LEF1Protein interaction96%
Tissue Expression6 tissues
Ovary
100%
Heart
96%
Brain
52%
Lung
51%
Bone Marrow
30%
Liver
6%
Gene Interaction Network
Click a node to explore
EBF1EP300CD19PPARGLDB1LOC102723407LEF1
PROTEIN STRUCTURE
Preparing viewer…
PDB3MQI · 2.30 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.16 [0.10–0.26]
RankingsWhere EBF1 stands among ~20K protein-coding genes
  • #4,933of 20,598
    Most Researched97 · top quartile
  • #869of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedEBF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell dynamics of liver development in postnatal pigs.
PMID: 37783617
Sci Bull (Beijing) · 2023
1.00
2
IKZF1
PMID: 29498923
J Clin Oncol · 2018
0.90
3
Hedgehog signaling reprograms hair follicle niche fibroblasts to a hyper-activated state.
PMID: 35777353
Dev Cell · 2022
0.80
4
Cardiovascular Significance and Genetics of Epicardial and Pericardial Adiposity.
PMID: 38477908
JAMA Cardiol · 2024
0.70
5
Single-cell analysis identifies dynamic gene expression networks that govern B cell development and transformation.
PMID: 34824268
Nat Commun · 2021
0.60