TFB2M (transcription factor B2, mitochondrial)

2014-08-01  

Identity

HGNC
LOCATION
1q44
LOCUSID
ALIAS
Hkp1,mtTFB2
FUSION GENES

Other Information

Locus ID:

NCBI: 64216
MIM: 607055
HGNC: 18559
Ensembl: ENSG00000162851

Variants:

dbSNP: 64216
ClinVar: 64216
TCGA: ENSG00000162851
COSMIC: TFB2M

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162851ENST00000366514Q9H5Q4

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201
Gene ExpressionREACTOMER-HSA-74160
RNA Polymerase I, RNA Polymerase III, and Mitochondrial TranscriptionREACTOMER-HSA-504046
Transcription from mitochondrial promotersREACTOMER-HSA-75944
Mitochondrial transcription initiationREACTOMER-HSA-163282

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
120682952002Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA.188
204103002010Human mitochondrial transcription revisited: only TFAM and TFB2M are required for transcription of the mitochondrial genes in vitro.72
175578122007Relative abundance of the human mitochondrial transcription system and distinct roles for h-mtTFB1 and h-mtTFB2 in mitochondrial biogenesis and gene expression.56
194170062009Elucidation 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.35
291496032017Structural Basis of Mitochondrial Transcription Initiation.27
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
244135622014Organization of the human mitochondrial transcription initiation complex.15
280281732017Human Mitochondrial Transcription Factor B2 Is Required for Promoter Melting during Initiation of Transcription.12
196247532009DNA conformation-dependent activities of human mitochondrial RNA polymerase.11
196817682010Training response of mitochondrial transcription factors in human skeletal muscle.11

Citation

Dessen P

TFB2M (transcription factor B2, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54698/tfb2m