Human Gene TFB2M (ENST00000366514.5) from GENCODE V44
  Description: Homo sapiens transcription factor B2, mitochondrial (TFB2M), mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_022366)
Gencode Transcript: ENST00000366514.5
Gencode Gene: ENSG00000162851.8
Transcript (Including UTRs)
   Position: hg38 chr1:246,540,561-246,566,261 Size: 25,701 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr1:246,541,031-246,566,138 Size: 25,108 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:246,540,561-246,566,261)mRNA (may differ from genome)Protein (396 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGencode
GeneCardsHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TFB2M_HUMAN
DESCRIPTION: RecName: Full=Dimethyladenosine transferase 2, mitochondrial; EC=2.1.1.-; AltName: Full=Hepatitis C virus NS5A-transactivated protein 5; Short=HCV NS5A-transactivated protein 5; AltName: Full=Mitochondrial 12S rRNA dimethylase 2; AltName: Full=Mitochondrial transcription factor B2; Short=h-mtTFB; Short=h-mtTFB2; Short=hTFB2M; Short=mtTFB2; AltName: Full=S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2; Flags: Precursor;
FUNCTION: S-adenosyl-L-methionine-dependent methyltransferase which specifically dimethylates mitochondrial 12S rRNA at the conserved stem loop. Also required for basal transcription of mitochondrial DNA, probably via its interaction with POLRMT and TFAM. Stimulates transcription independently of the methyltransferase activity. Compared to TFB1M, it activates transcription of mitochondrial DNA more efficiently, while it has less methyltransferase activity.
SUBUNIT: Interacts with mitochondrial RNA polymerase POLRMT. Interacts with TFAM.
SUBCELLULAR LOCATION: Mitochondrion.
TISSUE SPECIFICITY: Ubiquitously expressed.
INDUCTION: By the nuclear respiratory factors NRF1 and NRF2/GABPB2 and PGC-1 coactivators.
SIMILARITY: Belongs to the methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily.
SEQUENCE CAUTION: Sequence=BAB15441.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.25 RPKM in Adrenal Gland
Total median expression: 287.55 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.70123-0.347 Picture PostScript Text
3' UTR -103.90470-0.221 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016861 - Mt_di-Me-Ado_Trfase_2_prcur
IPR001737 - rRNA_Ade_methylase_transferase

Pfam Domains:
PF00398 - Ribosomal RNA adenine dimethylase

ModBase Predicted Comparative 3D Structure on Q9H5Q4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000179 rRNA (adenine-N6,N6-)-dimethyltransferase activity
GO:0003712 transcription cofactor activity
GO:0003723 RNA binding
GO:0008168 methyltransferase activity
GO:0008649 rRNA methyltransferase activity
GO:0016740 transferase activity

Biological Process:
GO:0000154 rRNA modification
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006364 rRNA processing
GO:0006390 transcription from mitochondrial promoter
GO:0006391 transcription initiation from mitochondrial promoter
GO:0007005 mitochondrion organization
GO:0031167 rRNA methylation
GO:0032259 methylation
GO:0045893 positive regulation of transcription, DNA-templated

Cellular Component:
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0042645 mitochondrial nucleoid


-  Descriptions from all associated GenBank mRNAs
  LF383662 - JP 2014500723-A/191165: Polycomb-Associated Non-Coding RNAs.
MA619239 - JP 2018138019-A/191165: Polycomb-Associated Non-Coding RNAs.
AK026314 - Homo sapiens cDNA: FLJ22661 fis, clone HSI08059.
BC003383 - Homo sapiens transcription factor B2, mitochondrial, mRNA (cDNA clone MGC:5368 IMAGE:3049009), complete cds.
AK026835 - Homo sapiens cDNA: FLJ23182 fis, clone LNG11207.
AF529366 - Homo sapiens NS5ATP5 (NS5ATP5) mRNA, complete cds.
KJ899449 - Synthetic construct Homo sapiens clone ccsbBroadEn_08843 TFB2M gene, encodes complete protein.
EU446518 - Synthetic construct Homo sapiens clone IMAGE:100070186; IMAGE:100011727; FLH258745.01L transcription factor B2, mitochondrial (TFB2M) gene, encodes complete protein.
AB527481 - Synthetic construct DNA, clone: pF1KB7662, Homo sapiens TFB2M gene for transcription factor B2, mitochondrial, without stop codon, in Flexi system.
BC042010 - Homo sapiens transcription factor B2, mitochondrial, mRNA (cDNA clone IMAGE:5311413).
JD506433 - Sequence 487457 from Patent EP1572962.
JD247856 - Sequence 228880 from Patent EP1572962.
LF321131 - JP 2014500723-A/128634: Polycomb-Associated Non-Coding RNAs.
MA556708 - JP 2018138019-A/128634: Polycomb-Associated Non-Coding RNAs.
JD213575 - Sequence 194599 from Patent EP1572962.
JD557099 - Sequence 538123 from Patent EP1572962.
JD026558 - Sequence 7582 from Patent EP1572962.
JD031387 - Sequence 12411 from Patent EP1572962.
LF321132 - JP 2014500723-A/128635: Polycomb-Associated Non-Coding RNAs.
MA556709 - JP 2018138019-A/128635: Polycomb-Associated Non-Coding RNAs.
AK300238 - Homo sapiens cDNA FLJ57434 complete cds, highly similar to Homo sapiens transcription factor B2, mRNA.
LF321133 - JP 2014500723-A/128636: Polycomb-Associated Non-Coding RNAs.
MA556710 - JP 2018138019-A/128636: Polycomb-Associated Non-Coding RNAs.
LF321134 - JP 2014500723-A/128637: Polycomb-Associated Non-Coding RNAs.
MA556711 - JP 2018138019-A/128637: Polycomb-Associated Non-Coding RNAs.
JD336835 - Sequence 317859 from Patent EP1572962.
JD432149 - Sequence 413173 from Patent EP1572962.
JD280788 - Sequence 261812 from Patent EP1572962.
JD144464 - Sequence 125488 from Patent EP1572962.
LF321135 - JP 2014500723-A/128638: Polycomb-Associated Non-Coding RNAs.
MA556712 - JP 2018138019-A/128638: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H5Q4 (Reactome details) participates in the following event(s):

R-HSA-163296 Association of TFAM:mt promoter complex with POLRMT:TFB2M
R-HSA-2151201 Transcriptional activation of mitochondrial biogenesis
R-HSA-163282 Mitochondrial transcription initiation
R-HSA-1592230 Mitochondrial biogenesis
R-HSA-75944 Transcription from mitochondrial promoters
R-HSA-1852241 Organelle biogenesis and maintenance
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000366514.1, ENST00000366514.2, ENST00000366514.3, ENST00000366514.4, NM_022366, NS5ATP5, Q9H5Q4, Q9H626, TFB2M_HUMAN, uc001ibn.1, uc001ibn.2, uc001ibn.3, uc001ibn.4, uc001ibn.5
UCSC ID: ENST00000366514.5
RefSeq Accession: NM_022366
Protein: Q9H5Q4 (aka TFB2M_HUMAN)
CCDS: CCDS1627.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.