TFB2M transcription factor B2, mitochondrial [Homo sapiens (human)] - Gene

Summary

Official Symbol: TFB2Mprovided by HGNC
Official Full Name: transcription factor B2, mitochondrialprovided by HGNC
Primary source: HGNC:HGNC:18559
See related: Ensembl:ENSG00000162851 MIM:607055; AllianceGenome:HGNC:18559
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Hkp1; hTFB2M; mtTFB2; h-mtTFB; h-mtTFB2
Summary: Enables mitochondrial transcription factor activity. Involved in transcription initiation from mitochondrial promoter. Located in mitochondrial nucleoid. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in adrenal (RPKM 13.7), kidney (RPKM 9.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q44

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (246540561..246566261, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (245961432..245987151, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (246703863..246729563, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial transcription factor B2 overexpression increases M2 macrophage infiltration via cytosolic mitochondrial DNA-stimulated Interleukin-6 secretion in ovarian cancer.
Title: Mitochondrial transcription factor B2 overexpression increases M2 macrophage infiltration via cytosolic mitochondrial DNA-stimulated Interleukin-6 secretion in ovarian cancer.
TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.
Title: TFB2M and POLRMT are essential for mammalian mitochondrial DNA replication.
Over-expression of TFB2M facilitates cell growth and metastasis via activating ROS-Akt-NF-kappaB signalling in hepatocellular carcinoma.
Title: Over-expression of TFB2M facilitates cell growth and metastasis via activating ROS-Akt-NF-κB signalling in hepatocellular carcinoma.
Phosphorylation of mitochondrial transcription factor B2 controls mitochondrial DNA binding and transcription.
Title: Phosphorylation of mitochondrial transcription factor B2 controls mitochondrial DNA binding and transcription.
a rare homozygous c.790C>T (His264Tyr) variation in TFB2M gene in two Korean siblings with autism spectrum disorder by whole-exome sequencing, is reported.
Title: Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder.
Study reports crystal structures of human mitochondrial transcription initiation complexes assembled on both light and heavy strand promoters. The structures reveal how transcription factors TFAM and TFB2M assist mitochondrial RNA polymerase to achieve promoter-dependent initiation.
Title: Structural Basis of Mitochondrial Transcription Initiation.
demonstrate that a complex composed of TFAM and POLRMT was readily formed at the promoter but alone was insufficient for promoter melting, which only occurred when TFB2M joined the complex
Title: Human Mitochondrial Transcription Factor B2 Is Required for Promoter Melting during Initiation of Transcription.
The results reveal the organization of TFAM, POLRMT and TFB2M around the light-strand promoter and represent the first structural characterization of the entire mitochondrial transcriptional initiation complex.
Title: Organization of the human mitochondrial transcription initiation complex.
only two essential initiation factors, TFAM and TFB2M, and two promoters, LSP and HSP1, are required to drive transcription of the mitochondrial genome
Title: Human mitochondrial transcription revisited: only TFAM and TFB2M are required for transcription of the mitochondrial genes in vitro.
The mRNA levels of TFB1M and TFB2M are influenced by endurance training
Title: Training response of mitochondrial transcription factors in human skeletal muscle.

Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S1021 (e-PCR)
- UniSTS:149144

RH103395 (e-PCR)
- UniSTS:97721

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables mitochondrial transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables mitochondrial transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables rRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in mitochondrial transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in rRNA methylation	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription initiation at mitochondrial promoter	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription initiation at mitochondrial promoter	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in mitochondrial matrix	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrial matrix	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial matrix	NAS Non-traceable Author Statement more info	PubMed
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrial nucleoid	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: dimethyladenosine transferase 2, mitochondrial

Names: HCV NS5A-transactivated protein 5; S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2; hepatitis C virus NS5A-transactivated protein 5; mitochondrial 12S rRNA dimethylase 2; mitochondrial transcription factor B2

NP_071761.1

EC 2.1.1.-

XP_011542550.1

EC 2.1.1.-

XP_054194141.1

EC 2.1.1.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_022366.3 → NP_071761.1 dimethyladenosine transferase 2, mitochondrial

See identical proteins and their annotated locations for NP_071761.1

Status: VALIDATED

Source sequence(s)

AK026835, CK725134, DA038232

Consensus CDS

CCDS1627.1

UniProtKB/Swiss-Prot

Q9H5Q4, Q9H626

Related

ENSP00000355471.4, ENST00000366514.5

Conserved Domains (1) summary

cl17173
Location:94 → 379

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

246540561..246566261 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011544248.2 → XP_011542550.1 dimethyladenosine transferase 2, mitochondrial isoform X1

See identical proteins and their annotated locations for XP_011542550.1

Conserved Domains (1) summary

cl17173
Location:94 → 278

AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...