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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
  • 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
  • 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. Among its related pathways are Gene Expression and Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding and rRNA methyltransferase 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

Promoters for TFB2M Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TFB2M on UCSC Golden Path with GeneCards custom track

Genomic Location for TFB2M Gene

Chromosome:
1
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

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:
    • 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 Lys 371
  • Modification sites at PhosphoSitePlus

Other Protein References for TFB2M Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for TFB2M Gene

Domains & Families 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 :
  • 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

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

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

Animal Model Products

miRNA for TFB2M Gene

miRTarBase miRNAs that target TFB2M

No data available for Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for TFB2M Gene COMPARTMENTS Subcellular localization image for TFB2M gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for TFB2M Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005759 mitochondrial matrix TAS --
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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006996 organelle organization TAS --
GO:0045893 positive regulation of transcription, DNA-templated IDA 20410300
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) Drugs for TFB2M Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
S-Adenosylmethionine Approved Nutra 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:

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

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, 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 expression patterns with TFB2M: view

Protein tissue co-expression partners for TFB2M Gene

Primer Products

In Situ Assay Products

No data available for 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
chimpanzee
(Pan troglodytes)
Mammalia TFB2M 35
  • 98.98 (n)
  • 99.49 (a)
TFB2M 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TFB2M 36
  • 53 (a)
OneToOne
TFB2M 35
  • 71.95 (n)
  • 54.48 (a)
dog
(Canis familiaris)
Mammalia TFB2M 35
  • 71.15 (n)
  • 53.05 (a)
TFB2M 36
  • 51 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfb2m 16
Gm1818 36
  • 53 (a)
OneToMany
Tfb2m 36
  • 53 (a)
OneToMany
Tfb2m 35
  • 69.57 (n)
  • 53.33 (a)
oppossum
(Monodelphis domestica)
Mammalia TFB2M 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFB2M 36
  • 46 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tfb2m 35
  • 70.37 (n)
  • 54.78 (a)
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 36
  • 31 (a)
OneToOne
tfb2m 35
  • 52.4 (n)
  • 40.94 (a)
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
rs11585481 - 246,557,470(+) TTCTA(A/G)GATCT intron-variant, reference, missense
rs12037377 - 246,551,218(+) CATGT(A/G)CAGAA reference, missense
VAR_071249 -
VAR_071250 -
rs1890160 -- 246,548,731(+) TTTAA(A/G)AGAAA 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

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)

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

Relevant External Links for TFB2M

Genetic Association Database (GAD)
TFB2M
Human Genome Epidemiology (HuGE) Navigator
TFB2M
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TFB2M

No disorders were found for TFB2M Gene.

No data available for MalaCards , 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) SA!nchez-Ferrero E. … Alvarez V. (Parkinsonism Relat. Disord. 2009) 3 4 48 67
  2. The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells. (PMID: 15526033) Gaspari M. … Gustafsson C.M. (EMBO J. 2004) 3 23
  3. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Organization of the human mitochondrial transcription initiation complex. (PMID: 24413562) Yakubovskaya E. … Garcia-Diaz M. (Nucleic Acids Res. 2014) 3

Products for TFB2M Gene

Sources for TFB2M Gene

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