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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
  • 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. Among its related pathways are Organelle biogenesis and maintenance and Gene Expression. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for TFB2M Gene

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

Genomics for TFB2M Gene

GeneHancer (GH) Regulatory Elements for TFB2M Gene

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
GH01I246564 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 -3.2 -3162 9.4 HDGF PKNOX1 FOXA2 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 YY1 CNST TFB2M ZNF670-ZNF695 ZNF669 AHCTF1 ZNF496 ZNF124 SMYD3 LINC01341 ENSG00000225300
GH01I246586 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 14.1 -21.6 -21612 2 PKNOX1 FOXA2 ARID4B THRB RARA SMARCA5 RXRA PPARG NFIL3 ATF4 CNST TFB2M ENSG00000225300 LOC105373271
GH01I246590 Promoter 0.8 EPDnew 14.1 -23.8 -23761 0.1 ZNF280A AFF1 TRIM24 TRIM28 CHAMP1 CNST TFB2M ENSG00000225300 LOC105373271
GH01I246591 Enhancer 0.8 ENCODE dbSUPER 14 -26.3 -26276 3 PKNOX1 JUNB BATF ATF2 RELA JUND POLR2A IKZF1 RCOR1 RUNX3 CNST TFB2M ENSG00000225300 LOC105373271
GH01I246575 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 4.9 -14.7 -14699 10.2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B FEZF1 DMAP1 YY1 ZNF766 CNST SMYD3 ENSG00000225300 ZNF669 TFB2M LOC105373271
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TFB2M on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TFB2M gene promoter:

Genomic Locations for TFB2M Gene

Genomic Locations for TFB2M Gene
chr1:246,540,560-246,566,324
(GRCh38/hg38)
Size:
25,765 bases
Orientation:
Minus strand
chr1:246,703,862-246,729,626
(GRCh37/hg19)

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

Post-translational modifications for TFB2M Gene

  • Ubiquitination at posLast=371371
  • 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

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 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 IBA --
GO:0003712 transcription cofactor activity IDA 12068295
GO:0003723 RNA binding IEA,HDA 22681889
GO:0008168 methyltransferase activity IEA --
GO:0008649 rRNA 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

miRNA for TFB2M Gene

miRTarBase miRNAs that target TFB2M

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
cytosol 2
nucleus 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,IEA --
GO:0005759 mitochondrial matrix TAS --
GO:0030054 cell junction IDA --
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:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006364 rRNA processing IEA --
GO:0006390 mitochondrial transcription IDA 12068295
GO:0006391 transcription initiation from mitochondrial promoter IEA,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
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for TFB2M Gene



Protein tissue co-expression partners for TFB2M Gene

NURSA nuclear receptor signaling pathways regulating expression of TFB2M Gene:

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(4.2)
  • Lung(4.2)
  • Nervous system(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 33 34
  • 98.98 (n)
cow
(Bos Taurus)
Mammalia TFB2M 33 34
  • 71.95 (n)
dog
(Canis familiaris)
Mammalia TFB2M 33 34
  • 71.15 (n)
rat
(Rattus norvegicus)
Mammalia Tfb2m 33
  • 70.37 (n)
mouse
(Mus musculus)
Mammalia Tfb2m 33 16 34
  • 69.57 (n)
Gm1818 34
  • 53 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TFB2M 34
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TFB2M 34
  • 46 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFB2M 33 34
  • 58.53 (n)
lizard
(Anolis carolinensis)
Reptilia TFB2M 34
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfb2m 33
  • 56.49 (n)
Str.16704 33
zebrafish
(Danio rerio)
Actinopterygii tfb2m 33 34
  • 52.4 (n)
Species where no ortholog for TFB2M was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs1000025298 -- 246,560,967(-) G/A intron_variant
rs1000046725 -- 246,560,603(-) A/G intron_variant
rs1000143870 -- 246,567,011(-) C/T upstream_transcript_variant
rs1000245858 -- 246,556,084(-) C/T intron_variant
rs1000266435 -- 246,566,272(-) C/T upstream_transcript_variant

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

Additional Disease Information for TFB2M

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

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) Sánchez-Ferrero E … Alvarez V (Parkinsonism & related disorders 2009) 3 4 44 58
  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 44 58
  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 22 58
  4. 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 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for TFB2M Gene

Sources for TFB2M Gene

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