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Aliases for TFB2M Gene

Aliases for TFB2M Gene

  • Transcription Factor B2, Mitochondrial 2 3
  • S-Adenosylmethionine-6-N, N-Adenosyl(RRNA) Dimethyltransferase 2 3 4
  • Hepatitis C Virus NS5A-Transactivated Protein 5 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
  • HTFB2M 3 4
  • MtTFB2 3 4
  • Dimethyladenosine Transferase 2, Mitochondrial 3
  • EC 2.1.1.- 4
  • NS5ATP5 4
  • Hkp1 3

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 hepatitis c and hepatitis c virus. Among its related pathways are Gene Expression and RNA Polymerase I Promoter Opening. GO annotations related to this gene include transcription cofactor activity and rRNA (adenine-N6,N6-)-dimethyltransferase activity.

UniProtKB/Swiss-Prot for TFB2M Gene

  • 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.

Gene Wiki entry for TFB2M Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFB2M Gene

Genomics for TFB2M Gene

Regulatory Elements for TFB2M Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TFB2M Gene

Start:
246,540,560 bp from pter
End:
246,566,324 bp from pter
Size:
25,765 bases
Orientation:
Minus strand

Genomic View for TFB2M Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    • Interacts with mitochondrial RNA polymerase POLRMT. Interacts with TFAM.
    SequenceCaution:
    • Sequence=BAB15441.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TFB2M Gene

Proteomics data for TFB2M Gene at MOPED

Post-translational modifications for TFB2M Gene

  • Ubiquitination at Lys371
  • Modification sites at PhosphoSitePlus

Other Protein References for TFB2M Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TFB2M Gene

Domains for TFB2M Gene

Protein Domains for TFB2M Gene

Suggested Antigen Peptide Sequences for TFB2M Gene

Graphical View of Domain Structure for InterPro Entry

Q9H5Q4

UniProtKB/Swiss-Prot:

TFB2M_HUMAN :
  • Q9H5Q4
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

No data available for Gene Families for TFB2M Gene

Function for TFB2M Gene

Molecular function for TFB2M Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
By the nuclear respiratory factors NRF1 and NRF2/GABPB2 and PGC-1 coactivators.

Enzyme Numbers (IUBMB) 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 IEA --
GO:0003712 transcription cofactor activity IDA 12068295
GO:0008649 rRNA methyltransferase activity --
GO:0044822 poly(A) RNA binding IDA 22681889
genes like me logo Genes that share ontologies with TFB2M: view

Phenotypes for TFB2M Gene

GenomeRNAi human phenotypes for TFB2M:
genes like me logo Genes that share phenotypes with TFB2M: view

Animal Model Products

miRNA for TFB2M Gene

miRTarBase miRNAs that target TFB2M

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TFB2M

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for TFB2M Gene

Localization for TFB2M Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFB2M Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TFB2M Gene COMPARTMENTS Subcellular localization image for TFB2M gene
Compartment Confidence
mitochondrion 5
nucleus 1

Gene Ontology (GO) - Cellular Components for TFB2M Gene

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

Pathways 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 --
GO:0006355 regulation of transcription, DNA-templated --
GO:0006390 transcription from mitochondrial promoter TAS --
GO:0006391 transcription initiation from mitochondrial promoter TAS --
GO:0006996 organelle organization TAS --
genes like me logo Genes that share ontologies with TFB2M: view

Compounds for TFB2M Gene

(1) HMDB Compounds for TFB2M Gene

Compound Synonyms Cas Number PubMed IDs
S-Adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
29908-03-0
genes like me logo Genes that share compounds with TFB2M: view

Transcripts for TFB2M Gene

mRNA/cDNA for TFB2M Gene

Unigene Clusters for TFB2M Gene

Transcription factor B2, mitochondrial:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TFB2M

Primer Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
TFB2M

Expression for TFB2M Gene

mRNA expression in normal human tissues for TFB2M Gene

Protein differential expression in normal tissues 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 from ProteomicsDB, PaxDb, MOPED, and MaxQB for TFB2M Gene

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.
genes like me logo Genes that share expressions with TFB2M: view

Expression partners for TFB2M Gene

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues 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
cow
(Bos Taurus)
Mammalia TFB2M 35
  • 71.95 (n)
  • 54.48 (a)
TFB2M 36
  • 53 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TFB2M 35
  • 71.15 (n)
  • 53.05 (a)
TFB2M 36
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfb2m 35
  • 69.57 (n)
  • 53.33 (a)
Tfb2m 16
Gm1818 36
  • 53 (a)
OneToMany
Tfb2m 36
  • 53 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia TFB2M 35
  • 98.98 (n)
  • 99.49 (a)
TFB2M 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfb2m 35
  • 70.37 (n)
  • 54.78 (a)
oppossum
(Monodelphis domestica)
Mammalia TFB2M 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFB2M 36
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFB2M 35
  • 58.53 (n)
  • 43.82 (a)
TFB2M 36
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFB2M 36
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.16704 35
tfb2m 35
  • 56.49 (n)
  • 44.31 (a)
zebrafish
(Danio rerio)
Actinopterygii tfb2m 35
  • 52.4 (n)
  • 40.94 (a)
tfb2m 36
  • 31 (a)
OneToOne
Species with no ortholog for TFB2M:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for TFB2M Gene

Pseudogenes.org Pseudogenes for TFB2M Gene

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

No data available for Paralogs for TFB2M Gene

Variants for TFB2M Gene

Sequence variations from dbSNP and Humsavar for TFB2M Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs14373 -- 246,540,837(-) CAATT(A/G)AATAA utr-variant-3-prime
rs764242 -- 246,541,163(-) ATGCA(A/C/T)ATAGG reference, missense
rs764243 -- 246,541,261(-) TCACC(A/G)TGAAC intron-variant
rs1890160 -- 246,548,731(+) TTTAA(A/G)AGAAA intron-variant
rs1890161 -- 246,548,823(+) TACCT(A/C)TTTTC intron-variant

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

Variant ID Type Subtype PubMed ID
dgv202e1 CNV Complex 17122850
nsv428346 CNV Gain 18775914
dgv33n21 CNV Gain 19592680
nsv873420 CNV Gain 21882294
nsv528615 CNV Gain 19592680
nsv5254 CNV Insertion 18451855

Relevant External Links for TFB2M Gene

HapMap Linkage Disequilibrium report
TFB2M

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

Disorders for TFB2M Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for TFB2M Gene in MalaCards »

(3) Diseases for TFB2M Gene including...

Relevant External Links for TFB2M

Genetic Association Database (GAD)
TFB2M
Human Genome Epidemiology (HuGE) Navigator
TFB2M
genes like me logo Genes that share disorders with TFB2M: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for TFB2M Gene

Publications for TFB2M Gene

  1. The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells. (PMID: 15526033) Gaspari M. … Gustafsson C.M. (EMBO J. 2004) 3 4 23
  2. Mutational screening of the mitochondrial transcription factors B1 and B2 (TFB1M and TFB2M) in Parkinson's disease. (PMID: 18980857) SA!nchez-Ferrero E. … Alvarez V. (Parkinsonism Relat. Disord. 2009) 3 4 48
  3. 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. (Dis. Markers 2008) 3 4 48
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4
  5. Evidence for an early gene duplication event in the evolution of the mitochondrial transcription factor B family and maintenance of rRNA methyltransferase activity in human mtTFB1 and mtTFB2. (PMID: 17031457) Cotney J. … Shadel G.S. (J. Mol. Evol. 2006) 3 4

Products for TFB2M Gene

Sources for TFB2M Gene

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