TFB2M
Transcription Factor B2, Mitochondrial
Gene Information Card
| Symbol | TFB2M |
|---|---|
| Full Name | Transcription Factor B2, Mitochondrial |
| Gene Type | Protein coding |
| Chromosomal Location | 1q44 |
| NCBI Gene ID | 64216 ncbi.nlm.nih.gov/gene/64216 |
| Ensembl ID | ENSG00000162851 |
| UniProt ID | Q9H5Q4 |
| OMIM ID | 607055 |
| HGNC ID | 11725 |
| Aliases | HSPC176, mtTFB2, TFB2M |
Description
TFB2M encodes a mitochondrial transcription factor that, together with mitochondrial RNA polymerase (POLRMT) and transcription factor A (TFAM), initiates transcription of mitochondrial DNA. It binds to the mitochondrial promoter and facilitates promoter melting and transcription initiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial respiratory chain deficiency | Defective mitochondrial transcription due to TFB2M mutations leads to impaired oxidative phosphorylation | PMID: 22683711 |
| Leigh syndrome | Reduced mitochondrial transcription factor activity contributes to mitochondrial dysfunction in Leigh syndrome | PMID: 22683711 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal muscle | 10.2 | Medium |
| Liver | 8.1 | Low |
| Brain | 6.4 | Low |
| Kidney | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression |
| HEK293 | 12.1 | Medium expression |
| HepG2 | 9.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Reduced protein expression |
| c.352G>A | Missense | <0.01% | Impaired DNA binding |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce TFB2M activity impair mitochondrial transcription and oxidative phosphorylation.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Mitochondrial transcription | • DNA binding |
| • RNA polymerase II transcription factor activity | • Mitochondrion |
Pathways
• Mitochondrial transcription initiation
• Oxidative phosphorylation
Protein Summary
TFB2M is a 396-amino acid protein localized to the mitochondrial matrix. It forms a heterodimer with POLRMT and TFAM to initiate transcription of the mitochondrial genome. The protein contains a conserved rRNA methyltransferase domain but functions primarily as a transcription factor.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TFB2M Knockout HEK293 Cell Line | EDJ-KQ12009 | Human | 64216 | Details Get a Quote |
| TFB2M Knockout HCT 116 Cell Line | EDJ-KQ40595 | Human | 64216 | Details Get a Quote |
| TFB2M Knockout HeLa Cell Line | EDJ-KQ40596 | Human | 64216 | Details Get a Quote |
| TFB2M Knockout A-549 Cell Line | EDJ-KQ65550 | Human | 64216 | Details Get a Quote |
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