Aliases for TFB2M Gene

Aliases for TFB2M Gene

  • Transcription Factor B2, Mitochondrial 2 3 5
  • S-Adenosylmethionine-6-N', N'-Adenosyl(RRNA) Dimethyltransferase 2 3 4
  • Hepatitis C Virus NS5A-Transactivated Protein 5 3 4
  • Dimethyladenosine Transferase 2, Mitochondrial 3 4
  • Mitochondrial Transcription Factor B2 3 4
  • Mitochondrial 12S RRNA Dimethylase 2 3 4
  • HCV NS5A-Transactivated Protein 5 3 4
  • H-MtTFB2 3 4
  • H-MtTFB 3 4
  • MtTFB2 3 4
  • HTFB2M 3 4
  • Hkp1 2 3
  • EC 2.1.1.- 4
  • FLJ23182 2
  • FLJ22661 2
  • NS5ATP5 4
  • TFB2M 5

External Ids for TFB2M Gene

Previous GeneCards Identifiers for TFB2M Gene

  • GC01M244607
  • GC01M241980
  • GC01M242800
  • GC01M243651
  • GC01M243652
  • GC01M243029
  • GC01M244770
  • GC01M246703
  • GC01M217089

Summaries for TFB2M Gene

GeneCards Summary for TFB2M Gene

TFB2M (Transcription Factor B2, Mitochondrial) is a Protein Coding gene. Diseases associated with TFB2M include Mitochondrial Dna Depletion Syndrome 11 and Mitochondrial Dna Depletion Syndrome 1. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial Gene Expression. Gene Ontology (GO) annotations related to this gene include rRNA methyltransferase activity. An important paralog of this gene is TFB1M.

UniProtKB/Swiss-Prot Summary for TFB2M Gene

  • S-adenosyl-L-methionine-dependent rRNA methyltransferase which may methylate two specific adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 12S mitochondrial rRNA (Probable). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603, PubMed:12068295, PubMed:20410300, PubMed:15526033). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603, PubMed:15526033). Stimulates transcription independently of the methyltransferase activity (PubMed:12897151).

Gene Wiki entry for TFB2M Gene

Additional gene information for TFB2M Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TFB2M Gene

Genomics for TFB2M Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TFB2M Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J246564 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 -2.8 -2825 10.2 CREB1 GATAD2A ZNF629 REST ZNF512 IKZF1 NFKBIZ POLR2A BACH1 TARDBP CNST TFB2M ZNF669 ZNF670-ZNF695 AHCTF1 ZNF496 ZNF124 SMYD3 LINC01341 ENSG00000225300
GH01J246586 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 14.1 -21.7 -21675 2 GATAD2A ZNF512 JUND PKNOX1 RXRB CEBPA SOX13 GTF2E2 ZNF184 CEBPB CNST TFB2M ENSG00000225300 SCCPDH
GH01J246591 Enhancer 0.9 Ensembl ENCODE dbSUPER 14.1 -26.6 -26573 3.5 POLR2A RELA YY1 PKNOX1 RELB RUNX3 TCF12 JUNB RCOR1 BATF CNST TFB2M ENSG00000225300 SCCPDH
GH01J246575 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE dbSUPER 4.9 -14.8 -14762 10.2 GATAD2A ATF7 REST TFE3 LEF1 SOX13 IKZF1 NFKBIZ RCOR2 JUND CNST ZNF669 AHCTF1 SMYD3 ENSG00000225300 TFB2M SCCPDH
GH01J246497 Enhancer 0.8 Ensembl ENCODE 6.6 +68.4 68426 1.1 CTCF RELA REST RAD21 TRIM22 ARID3A SMC3 ZNF217 DEK RFX5 SMYD3 TFB2M ENSG00000207326
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TFB2M on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TFB2M

Top Transcription factor binding sites by QIAGEN in the TFB2M gene promoter:
  • c-Myc
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Max1
  • Sp1

Genomic Locations for TFB2M Gene

Genomic Locations for TFB2M Gene
chr1:246,540,561-246,566,261
(GRCh38/hg38)
Size:
25,701 bases
Orientation:
Minus strand
chr1:246,703,862-246,729,626
(GRCh37/hg19)
Size:
25,765 bases
Orientation:
Minus strand

Genomic View for TFB2M Gene

Genes around TFB2M on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFB2M Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFB2M Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFB2M Gene

Proteins for TFB2M Gene

  • Protein details for TFB2M Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H5Q4-TFB2M_HUMAN
    Recommended name:
    Dimethyladenosine transferase 2, mitochondrial
    Protein Accession:
    Q9H5Q4
    Secondary Accessions:
    • Q9H626

    Protein attributes for TFB2M Gene

    Size:
    396 amino acids
    Molecular mass:
    45349 Da
    Quaternary structure:
    • Homodimer (PubMed:29149603). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT (PubMed:29149603). In this complex TFAM recruits POLRMT to the promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603). Interacts with mitochondrial RNA polymerase POLRMT (PubMed:12068295). Interacts with TFAM (PubMed:12897151).
    SequenceCaution:
    • Sequence=BAB15441.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for TFB2M Gene

neXtProt entry for TFB2M Gene

Post-translational modifications for TFB2M Gene

  • Ubiquitination at Lys371
  • Modification sites at PhosphoSitePlus

Other Protein References for TFB2M Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TFB2M Gene

Domains & Families for TFB2M Gene

Gene Families for TFB2M Gene

Protein Domains for TFB2M Gene

Suggested Antigen Peptide Sequences for TFB2M Gene

GenScript: Design optimal peptide antigens:
  • S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2 (TFB2M_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H5Q4

UniProtKB/Swiss-Prot:

TFB2M_HUMAN :
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily.
Family:
  • Belongs to the class I-like SAM-binding methyltransferase superfamily. rRNA adenine N(6)-methyltransferase family. KsgA subfamily.
genes like me logo Genes that share domains with TFB2M: view

Function for TFB2M Gene

Molecular function for TFB2M Gene

UniProtKB/Swiss-Prot Function:
S-adenosyl-L-methionine-dependent rRNA methyltransferase which may methylate two specific adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 12S mitochondrial rRNA (Probable). Component of the mitochondrial transcription initiation complex, composed at least of TFB2M, TFAM and POLRMT that is required for basal transcription of mitochondrial DNA (PubMed:29149603, PubMed:12068295, PubMed:20410300, PubMed:15526033). In this complex, TFAM recruits POLRMT to a specific promoter whereas TFB2M induces structural changes in POLRMT to enable promoter opening and trapping of the DNA non-template strand (PubMed:29149603, PubMed:15526033). Stimulates transcription independently of the methyltransferase activity (PubMed:12897151).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=adenosine in rRNA + S-adenosyl-L-methionine = H(+) + N(6)-methyladenosine in rRNA + S-adenosyl-L-homocysteine; Xref=Rhea:RHEA:58728, Rhea:RHEA-COMP:15198, Rhea:RHEA-COMP:15199, ChEBI:CHEBI:15378, ChEBI:CHEBI:57856, ChEBI:CHEBI:59789, ChEBI:CHEBI:74411, ChEBI:CHEBI:74449; Evidence={ECO:0000305|PubMed:17031457};.
UniProtKB/Swiss-Prot Induction:
By the nuclear respiratory factors NRF1 and NRF2/GABPB2 and PGC-1 coactivators.

Enzyme Numbers (IUBMB) for TFB2M Gene

Phenotypes From GWAS Catalog for TFB2M Gene

Gene Ontology (GO) - Molecular Function for TFB2M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000179 rRNA (adenine-N6,N6-)-dimethyltransferase activity IBA 21873635
GO:0003700 DNA-binding transcription factor activity IDA 29149603
GO:0003712 transcription coregulator activity IDA 12068295
GO:0003723 RNA binding IEA,HDA 22681889
GO:0008168 methyltransferase activity IEA --
genes like me logo Genes that share ontologies with TFB2M: view
genes like me logo Genes that share phenotypes with TFB2M: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFB2M

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TFB2M Gene

Localization for TFB2M Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFB2M Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFB2M gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for TFB2M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix TAS --
GO:0042645 mitochondrial nucleoid IDA 18063578
genes like me logo Genes that share ontologies with TFB2M: view

Pathways & Interactions for TFB2M Gene

genes like me logo Genes that share pathways with TFB2M: view

Gene Ontology (GO) - Biological Process for TFB2M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000154 rRNA modification IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006364 rRNA processing IEA --
GO:0006390 mitochondrial transcription IBA,IDA 12068295
GO:0006391 transcription initiation from mitochondrial promoter IDA,TAS --
genes like me logo Genes that share ontologies with TFB2M: view

No data available for SIGNOR curated interactions for TFB2M Gene

Drugs & Compounds for TFB2M Gene

(1) Additional Compounds for TFB2M Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
genes like me logo Genes that share compounds with TFB2M: view

Transcripts for TFB2M Gene

mRNA/cDNA for TFB2M Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TFB2M

Alternative Splicing Database (ASD) splice patterns (SP) for TFB2M Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP1: -
SP2: - - -
SP3:

Relevant External Links for TFB2M Gene

GeneLoc Exon Structure for
TFB2M

Expression for TFB2M Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TFB2M Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TFB2M Gene

This gene is overexpressed in Bone (37.1), Breast (12.5), Pancreas (8.2), and Lung (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TFB2M Gene



Protein tissue co-expression partners for TFB2M Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TFB2M

SOURCE GeneReport for Unigene cluster for TFB2M Gene:

Hs.7395

mRNA Expression by UniProt/SwissProt for TFB2M Gene:

Q9H5Q4-TFB2M_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for TFB2M Gene

  • Intestine(4.3)
  • Lung(4.3)
  • Nervous system(3)
  • Muscle(2.4)
  • Heart(2.3)
  • Liver(2.3)
  • Kidney(2.1)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with TFB2M: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TFB2M Gene

Orthologs for TFB2M Gene

This gene was present in the common ancestor of chordates.

Orthologs for TFB2M Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TFB2M 30 31
  • 98.98 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TFB2M 30 31
  • 71.95 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TFB2M 30 31
  • 71.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tfb2m 30
  • 70.37 (n)
Mouse
(Mus musculus)
Mammalia Tfb2m 30 17 31
  • 69.57 (n)
OneToMany
Gm1818 31
  • 53 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia TFB2M 31
  • 46 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TFB2M 31
  • 46 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TFB2M 30 31
  • 58.53 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TFB2M 31
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tfb2m 30
  • 56.49 (n)
Str.16704 30
Zebrafish
(Danio rerio)
Actinopterygii tfb2m 30 31
  • 52.4 (n)
OneToOne
Species where no ortholog for TFB2M was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TFB2M Gene

ENSEMBL:
Gene Tree for TFB2M (if available)
TreeFam:
Gene Tree for TFB2M (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TFB2M: view image

Paralogs for TFB2M Gene

Paralogs for TFB2M Gene

Pseudogenes.org Pseudogenes for TFB2M Gene

genes like me logo Genes that share paralogs with TFB2M: view

Variants for TFB2M Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TFB2M Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
717695 Benign: not provided 246,564,370(-) G/A SYNONYMOUS_VARIANT
740911 Benign: not provided 246,557,457(-) T/C SYNONYMOUS_VARIANT
rs11585481 - p.Pro156Leu
rs12037377 - p.His264Tyr
rs143880306 - p.Ala64Thr

Additional dbSNP identifiers (rs#s) for TFB2M Gene

Structural Variations from Database of Genomic Variants (DGV) for TFB2M Gene

Variant ID Type Subtype PubMed ID
dgv33n21 CNV gain 19592680
esv2759012 CNV gain 17122850
esv2762191 CNV gain 21179565
esv3578531 CNV loss 25503493
esv3589483 CNV gain 21293372
esv3891370 CNV loss 25118596
nsv1010453 CNV gain 25217958
nsv428346 CNV gain 18775914
nsv5254 CNV insertion 18451855
nsv528615 CNV gain 19592680
nsv549528 CNV gain 21841781
nsv549535 CNV loss 21841781

Variation tolerance for TFB2M Gene

Residual Variation Intolerance Score: 37.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TFB2M Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TFB2M

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFB2M Gene

Disorders for TFB2M Gene

MalaCards: The human disease database

(6) MalaCards diseases for TFB2M Gene - From: DISEASES

Disorder Aliases PubMed IDs
mitochondrial dna depletion syndrome 11
  • mtdps11
mitochondrial dna depletion syndrome 1
  • mtdps1
deafness, aminoglycoside-induced
  • deafness, streptomycin-induced
3-methylglutaconic aciduria, type iii
  • mgca3
leber optic atrophy
  • leber optic atrophy, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search TFB2M in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TFB2M

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TFB2M: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TFB2M Gene

Publications for TFB2M Gene

  1. Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. (PMID: 18980857) Sánchez-Ferrero E … Alvarez V (Parkinsonism & related disorders 2009) 3 4 41
  2. Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy. (PMID: 19096125) Alonso-Montes C … Coto E (Disease markers 2008) 3 4 41
  3. The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells. (PMID: 15526033) Gaspari M … Gustafsson CM (The EMBO journal 2004) 3 4 23
  4. Structural Basis of Mitochondrial Transcription Initiation. (PMID: 29149603) Hillen HS … Cramer P (Cell 2017) 3 4
  5. Human mitochondrial transcription revisited: only TFAM and TFB2M are required for transcription of the mitochondrial genes in vitro. (PMID: 20410300) Litonin D … Temiakov D (The Journal of biological chemistry 2010) 3 4

Products for TFB2M Gene

Sources for TFB2M Gene