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    TFB2M transcription factor B2, mitochondrial [ Homo sapiens (human) ]

    Gene ID: 64216, updated on 3-Nov-2024

    Summary

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    Official Symbol
    TFB2Mprovided by HGNC
    Official Full Name
    transcription factor B2, mitochondrialprovided by HGNC
    Primary source
    HGNC:HGNC:18559
    See related
    Ensembl:ENSG00000162851 MIM:607055; AllianceGenome:HGNC:18559
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    Hkp1; hTFB2M; mtTFB2; h-mtTFB; h-mtTFB2
    Summary
    Enables mitochondrial transcription factor activity. Involved in transcription initiation at mitochondrial promoter. Located in mitochondrial nucleoid. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 13.7), kidney (RPKM 9.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TFB2M in Genome Data Viewer
    Location:
    1q44
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (246540561..246566261, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (245961432..245987151, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (246703863..246729563, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene SET and MYND domain containing 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:246487577-246488097 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2031 Neighboring gene SMYD3 intronic transcript 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:246518331-246518956 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246533672-246533878 Neighboring gene MPRA-validated peak812 silencer Neighboring gene Sharpr-MPRA regulatory region 15017 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:246591613-246592114 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:246592115-246592614 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:246612672-246613232 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:246670033-246670533 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246671208-246671440 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2034 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:246669532-246670032 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246679947-246680127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:246701627-246702127 Neighboring gene long intergenic non-protein coding RNA 1743 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2856 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2857 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:246762689-246762876 Neighboring gene uncharacterized LOC105373271 Neighboring gene consortin, connexin sorting protein Neighboring gene ribosomal protein L7a pseudogene 82

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Human Mitochondrial Transcription Factor B2 Is Required for Promoter Melting during Initiation of Transcription. Posse V, et al. J Biol Chem, 2017 Feb 17. PMID 28028173, Free PMC Article
    2. Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder. Park CB, et al. Biochem Biophys Res Commun, 2018 Dec 9. PMID 30414672
    3. Over-expression of TFB2M facilitates cell growth and metastasis via activating ROS-Akt-NF-κB signalling in hepatocellular carcinoma. Geng X, et al. Liver Int, 2020 Jul. PMID 32174027
    4. Phosphorylation of mitochondrial transcription factor B2 controls mitochondrial DNA binding and transcription. Bostwick AM, et al. Biochem Biophys Res Commun, 2020 Jul 30. PMID 32505352, Free PMC Article
    5. Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness. Cotney J, et al. Hum Mol Genet, 2009 Jul 15. PMID 19417006, Free PMC Article

    See all (71) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mitochondrial transcription factor B2 overexpression increases M2 macrophage infiltration via cytosolic mitochondrial DNA-stimulated Interleukin-6 secretion in ovarian cancer.
      Title: Mitochondrial transcription factor B2 overexpression increases M2 macrophage infiltration via cytosolic mitochondrial DNA-stimulated Interleukin-6 secretion in ovarian cancer.
    2. TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.
      Title: TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.
    3. Over-expression of TFB2M facilitates cell growth and metastasis via activating ROS-Akt-NF-kappaB signalling in hepatocellular carcinoma.
      Title: Over-expression of TFB2M facilitates cell growth and metastasis via activating ROS-Akt-NF-κB signalling in hepatocellular carcinoma.
    4. Phosphorylation of mitochondrial transcription factor B2 controls mitochondrial DNA binding and transcription.
      Title: Phosphorylation of mitochondrial transcription factor B2 controls mitochondrial DNA binding and transcription.
    5. a rare homozygous c.790C>T (His264Tyr) variation in TFB2M gene in two Korean siblings with autism spectrum disorder by whole-exome sequencing, is reported.
      Title: Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder.
    6. Study reports crystal structures of human mitochondrial transcription initiation complexes assembled on both light and heavy strand promoters. The structures reveal how transcription factors TFAM and TFB2M assist mitochondrial RNA polymerase to achieve promoter-dependent initiation.
      Title: Structural Basis of Mitochondrial Transcription Initiation.
    7. demonstrate that a complex composed of TFAM and POLRMT was readily formed at the promoter but alone was insufficient for promoter melting, which only occurred when TFB2M joined the complex
      Title: Human Mitochondrial Transcription Factor B2 Is Required for Promoter Melting during Initiation of Transcription.
    8. The results reveal the organization of TFAM, POLRMT and TFB2M around the light-strand promoter and represent the first structural characterization of the entire mitochondrial transcriptional initiation complex.
      Title: Organization of the human mitochondrial transcription initiation complex.
    9. only two essential initiation factors, TFAM and TFB2M, and two promoters, LSP and HSP1, are required to drive transcription of the mitochondrial genome
      Title: Human mitochondrial transcription revisited: only TFAM and TFB2M are required for transcription of the mitochondrial genes in vitro.
    10. The mRNA levels of TFB1M and TFB2M are influenced by endurance training
      Title: Training response of mitochondrial transcription factors in human skeletal muscle.
    Submit: New GeneRIF Correction See all GeneRIFs (17)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22661, FLJ23182

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables mitochondrial transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables mitochondrial transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables rRNA (adenine-N6,N6-)-dimethyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in mitochondrial transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in rRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription initiation at mitochondrial promoter IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription initiation at mitochondrial promoter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in mitochondrial matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial matrix IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial matrix NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial matrix TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrial nucleoid IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion HTP PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    dimethyladenosine transferase 2, mitochondrial
    Names
    HCV NS5A-transactivated protein 5
    S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2
    hepatitis C virus NS5A-transactivated protein 5
    mitochondrial 12S rRNA dimethylase 2
    mitochondrial transcription factor B2
    NP_071761.1
    XP_011542550.1
    XP_054194141.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_022366.3 → NP_071761.1  dimethyladenosine transferase 2, mitochondrial

      See identical proteins and their annotated locations for NP_071761.1

      Status: VALIDATED

      Source sequence(s)
      AK026835, CK725134, DA038232
      Consensus CDS
      CCDS1627.1
      UniProtKB/Swiss-Prot
      Q9H5Q4, Q9H626
      Related
      ENSP00000355471.4, ENST00000366514.5
      Conserved Domains (1) summary
      cl17173
      Location:94 → 379
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      246540561..246566261 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544248.2 → XP_011542550.1  dimethyladenosine transferase 2, mitochondrial isoform X1

      See identical proteins and their annotated locations for XP_011542550.1

      Conserved Domains (1) summary
      cl17173
      Location:94 → 278
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      245961432..245987151 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338166.1 → XP_054194141.1  dimethyladenosine transferase 2, mitochondrial isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H5Q4.1 GenPept UniProtKB/Swiss-Prot:Q9H5Q4

    Gene LinkOut

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