HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BRF2
BRF2 general transcription factor IIIB subunit
Chromosome 8 · 8p11.23
NCBI Gene: 55290Ensembl: ENSG00000104221.14HGNC: HGNC:17298UniProt: Q9HAW0
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase III type 3 promoter sequence-specific DNA bindingprotein bindingregulation of transcription by RNA polymerase IIIcellular response to oxidative stressneurodegenerative diseasethyroiditisprostate cancerFamilial prostate cancer
✦AI Summary

BRF2 (TFIIB-related factor 2) is a general transcription factor and exclusive component of TFIIIB required for RNA polymerase III transcription of genes with upstream promoter elements, particularly type 3 promoters driving transcription of U6, RNase P, and 7SK RNAs 1. As a TFIIIB subunit, BRF2 recruits RNA polymerase III to type 3 promoters and functions as a transcriptional activator under normal conditions 1. During transcription initiation, BRF2 blocks template DNA in the RNA-DNA hybrid; its retraction is essential for the transition from initiation to elongation 1. BRF2 responds to cellular stress: it downregulates target genes and protects cells against oxidative stress-induced apoptosis [UniProt]. Pathologically, BRF2 is frequently overexpressed in multiple cancer types and functions as an oncogene. In invasive breast carcinoma, BRF2 alterations occur in 21% of cases and correlate with significantly decreased overall survival 2. In lung cancers, BRF2 upregulation promotes squamous carcinoma cell survival via SLC8A3-mediated mitochondrial homeostasis and reduced apoptosis 3, while it enhances adenocarcinoma proliferation and metastasis through MAPK/ERK pathway activation 4. Conversely, biallelic loss-of-function BRF2 variants cause severe neurodevelopmental disease with perinatal death and craniofacial anomalies, reflecting critical roles in RNA polymerase III function and development 5.

Sources cited
1
BRF2 is a TFIIIB subunit required for type 3 promoter transcription; blocks template DNA during initiation and retracts during initiation-elongation transition
PMID: 40468065
2
BRF2 is overexpressed in 60% of breast cancer datasets; alterations in 21% of invasive breast carcinoma patients correlate with decreased overall survival
PMID: 33176745
3
BRF2 promotes lung squamous carcinoma cell survival by upregulating SLC8A3 to maintain mitochondrial homeostasis and reduce apoptosis
PMID: 40610422
4
BRF2 enhances lung adenocarcinoma proliferation and metastasis through activation of the MAPK/ERK pathway
PMID: 34012797
5
Biallelic BRF2 variants cause recessive neurodevelopmental disease with perinatal death, craniofacial anomalies, and developmental delays
PMID: 40229899
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.49Moderate
thyroiditisOpen Targets
0.29Weak
prostate cancerOpen Targets
0.11Weak
Familial prostate cancerOpen Targets
0.11Weak
non-small cell lung carcinomaOpen Targets
0.10Suggestive
cancerOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
lung cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.06Suggestive
inflammatory breast carcinomaOpen Targets
0.06Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
Invasive Breast CarcinomaOpen Targets
0.03Suggestive
mathematical abilityOpen Targets
0.03Suggestive
in situ carcinomaOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
melanomaOpen Targets
0.01Suggestive
squamous cell lung carcinomaOpen Targets
0.01Suggestive
kidney cancerOpen Targets
0.01Suggestive
squamous cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GTF3C3Protein interaction97%GTF2BProtein interaction96%POLR3AProtein interaction92%POLR3BProtein interaction91%POLR1CProtein interaction86%CRCPProtein interaction85%
Tissue Expression6 tissues
Heart
100%
Brain
87%
Bone Marrow
80%
Ovary
64%
Lung
54%
Liver
37%
Gene Interaction Network
Click a node to explore
BRF2GTF3C3GTF2BPOLR3APOLR3BPOLR1CCRCP
PROTEIN STRUCTURE
Preparing viewer…
PDB4ROC · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.55 [0.38–0.83]
RankingsWhere BRF2 stands among ~20K protein-coding genes
  • #10,921of 20,598
    Most Researched35
  • #7,041of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedBRF2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Western Blot.
PMID: 26160567
Methods Mol Biol · 2015
1.00
2
A meta-analysis of BRF2 as a prognostic biomarker in invasive breast carcinoma.
PMID: 33176745
BMC Cancer · 2020
0.90
3
TFIIB-related factor 2 inhibits lung squamous carcinoma cell apoptosis through SLC8A3-mediated mitochondrial homeostasis.
PMID: 40610422
Cell Death Dis · 2025
0.80
4
MicroRNA-373 Inhibits Cell Proliferation and Invasion via Targeting BRF2 in Human Non-small Cell Lung Cancer A549 Cell Line.
PMID: 29025258
Cancer Res Treat · 2018
0.70
5
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
PMID: 40229899
Genome Med · 2025
0.60