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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TFB2M
transcription factor B2, mitochondrial
Chromosome 1 · 1q44
NCBI Gene: 64216Ensembl: ENSG00000162851.9HGNC: HGNC:18559UniProt: Q9H5Q4
77PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA bindingmitochondrial matrixmitochondrial nucleoidmitochondrial transcription factor activityAbnormal blistering of the skinneoplasmovarian cancerParkinson disease
✦AI Summary

TFB2M is a mitochondrial transcription initiation factor essential for human mtDNA transcription and replication. TFB2M functions as a component of the mitochondrial transcription initiation complex alongside TFAM and POLRMT 1. Within this complex, TFB2M induces critical structural changes in POLRMT to enable promoter opening and stabilization of the transcription bubble 23. Specifically, TFB2M's non-template stabilizing loop (K153LDPRSGGVIKPP165) and tyrosine 209 interact with the non-template strand to facilitate start site selection at the +1 position 3. TFB2M also possesses S-adenosyl-L-methionine-dependent rRNA methyltransferase activity and may methylate specific adenosines in 12S mitochondrial rRNA. Notably, TFB2M stimulates transcription independently of its methyltransferase function 2. Beyond transcription, TFB2M is indispensable for mtDNA maintenance, as knockout of TFB2M results in complete mtDNA loss, demonstrating its role in both strand-asynchronous and strand-coupled replication initiation 4. TFB2M cannot be functionally compensated by its paralog TFB1M 4. These findings establish TFB2M as a critical regulator of mitochondrial bioenergetics through control of mtDNA gene expression and genome stability.

Sources cited
1
TFB2M acts synergistically with TFAM as essential basal transcription initiation factors for mtDNA transcription
PMID: 20410300
2
TFB2M has post-recruitment roles in promoter melting and works synergistically with TFAM and POLRMT
PMID: 27903899
3
TFB2M's NT-stabilizing loop and Y209 interact with non-template strand to guide initiation from +1 start site and stabilize transcription bubble
PMID: 39677640
4
TFB2M is essential for mtDNA maintenance and replication; knockout results in complete mtDNA loss; TFB1M cannot compensate
PMID: 34744028
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Abnormal blistering of the skinOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.07Suggestive
ovarian cancerOpen Targets
0.07Suggestive
Parkinson diseaseOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
Abruptio PlacentaeOpen Targets
0.04Suggestive
rubellaOpen Targets
0.03Suggestive
esophageal ulcerOpen Targets
0.02Suggestive
male infertilityOpen Targets
0.02Suggestive
injuryOpen Targets
0.02Suggestive
lung adenocarcinomaOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
IGA glomerulonephritisOpen Targets
0.01Suggestive
Infantile dystonia-parkinsonismOpen Targets
0.01Suggestive
parkinsonism-dystonia, infantileOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
autism spectrum disorderOpen Targets
0.01Suggestive
HyperglycemiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UTP6Protein interaction100%WDR46Protein interaction100%KRR1Protein interaction100%BYSLProtein interaction100%NOC4LProtein interaction100%WDR36Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
78%
Heart
62%
Brain
24%
Lung
23%
Ovary
22%
Gene Interaction Network
Click a node to explore
TFB2MUTP6WDR46KRR1BYSLNOC4LWDR36
PROTEIN STRUCTURE
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PDB6ERO · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.16LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.86 [0.64–1.16]
RankingsWhere TFB2M stands among ~20K protein-coding genes
  • #6,218of 20,598
    Most Researched77
  • #12,060of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedTFB2M
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autophagy deficiency abolishes liver mitochondrial DNA segregation.
PMID: 35220898
Autophagy · 2022
1.00
2
Human mitochondrial transcription factors TFAM and TFB2M work synergistically in promoter melting during transcription initiation.
PMID: 27903899
Nucleic Acids Res · 2017
0.90
3
Human mitochondrial transcription revisited: only TFAM and TFB2M are required for transcription of the mitochondrial genes in vitro.
PMID: 20410300
J Biol Chem · 2010
0.80
4
Expression and Purification of Recombinant Human Mitochondrial RNA Polymerase (POLRMT) and the Initiation Factors TFAM and TFB2M.
PMID: 38094251
Bio Protoc · 2023
0.70
5
TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.
PMID: 34744028
Biochim Biophys Acta Mol Cell Res · 2022
0.60