Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64216
Gene name	Transcription factor B2, mitochondrial
Gene symbol	TFB2M
Synonyms (NCBI Gene)	Hkp1h-mtTFBh-mtTFB2hTFB2MmtTFB2
Chromosome	1
Chromosome location	1q44

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022454	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT029159	hsa-miR-26b-5p	Microarray	19088304
MIRT1420013	hsa-miR-1208	CLIP-seq
MIRT1420014	hsa-miR-3166	CLIP-seq
MIRT1420015	hsa-miR-452	CLIP-seq
MIRT1420016	hsa-miR-4676-3p	CLIP-seq
MIRT2126152	hsa-miR-1254	CLIP-seq
MIRT2126153	hsa-miR-19a	CLIP-seq
MIRT2126154	hsa-miR-19b	CLIP-seq
MIRT2126155	hsa-miR-3116	CLIP-seq
MIRT2126156	hsa-miR-661	CLIP-seq
MIRT2348119	hsa-miR-1237	CLIP-seq
MIRT2126152	hsa-miR-1254	CLIP-seq
MIRT2348120	hsa-miR-1265	CLIP-seq
MIRT2126153	hsa-miR-19a	CLIP-seq
MIRT2126154	hsa-miR-19b	CLIP-seq
MIRT2126155	hsa-miR-3116	CLIP-seq
MIRT2348121	hsa-miR-3616-5p	CLIP-seq
MIRT2348122	hsa-miR-3647-5p	CLIP-seq
MIRT2348123	hsa-miR-4670-3p	CLIP-seq
MIRT2348124	hsa-miR-4696	CLIP-seq
MIRT2348125	hsa-miR-4724-3p	CLIP-seq
MIRT2348126	hsa-miR-4762-5p	CLIP-seq
MIRT2348127	hsa-miR-4764-5p	CLIP-seq
MIRT2348128	hsa-miR-4766-5p	CLIP-seq
MIRT2348129	hsa-miR-4773	CLIP-seq
MIRT2348130	hsa-miR-488	CLIP-seq
MIRT2348131	hsa-miR-573	CLIP-seq
MIRT2348132	hsa-miR-579	CLIP-seq
MIRT2126156	hsa-miR-661	CLIP-seq
MIRT2640819	hsa-miR-101	CLIP-seq
MIRT2348121	hsa-miR-3616-5p	CLIP-seq
MIRT2348122	hsa-miR-3647-5p	CLIP-seq
MIRT2348123	hsa-miR-4670-3p	CLIP-seq
MIRT2640820	hsa-miR-4709-5p	CLIP-seq
MIRT2348126	hsa-miR-4762-5p	CLIP-seq
MIRT2640821	hsa-miR-494	CLIP-seq
MIRT2640822	hsa-miR-545	CLIP-seq
MIRT2640823	hsa-miR-548ad	CLIP-seq
MIRT2640824	hsa-miR-548c-3p	CLIP-seq
MIRT2348131	hsa-miR-573	CLIP-seq
MIRT2348132	hsa-miR-579	CLIP-seq
MIRT2348121	hsa-miR-3616-5p	CLIP-seq
MIRT2348122	hsa-miR-3647-5p	CLIP-seq
MIRT2348123	hsa-miR-4670-3p	CLIP-seq
MIRT2348126	hsa-miR-4762-5p	CLIP-seq
MIRT2640821	hsa-miR-494	CLIP-seq
MIRT2640823	hsa-miR-548ad	CLIP-seq
MIRT2348131	hsa-miR-573	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000154	Process	RRNA modification	IEA
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IDA	12068295
GO:0005759	Component	Mitochondrial matrix	NAS	29149603
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006390	Process	Mitochondrial transcription	IDA	12068295
GO:0006391	Process	Transcription initiation at mitochondrial promoter	IBA
GO:0006391	Process	Transcription initiation at mitochondrial promoter	IDA	20410300, 29149603
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008988	Function	RRNA (adenine-N6-)-methyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031167	Process	RRNA methylation	IBA
GO:0032259	Process	Methylation	IEA
GO:0034246	Function	Mitochondrial transcription factor activity	IBA
GO:0034246	Function	Mitochondrial transcription factor activity	IDA	12068295, 29149603
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578

MIM	HGNC	e!Ensembl
607055	18559	ENSG00000162851

Q9H5Q4

Protein name

Dimethyladenosine transferase 2, mitochondrial (EC 2.1.1.-) (Hepatitis C virus NS5A-transactivated protein 5) (HCV NS5A-transactivated protein 5) (Mitochondrial 12S rRNA dimethylase 2) (Mitochondrial transcription factor B2) (h-mtTFB) (h-mtTFB2) (hTFB2M)

Protein function

S-adenosyl-L-methionine-dependent rRNA methyltransferase which may methylate two specific adjacent adenosines in the loop of a conserved hairpin near the 3'-end of 12S mitochondrial rRNA (Probable). Component of the mitochondrial transcription i

PDB

6ERO , 6ERP , 6ERQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00398	RrnaAD	71 → 379	Ribosomal RNA adenine dimethylase	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12068295}.

Sequence

MWIPVVGLPRRLRLSALAGAGRFCILGSEAATRKHLPARNHCGLSDSSPQLWPEPDFRNP
PRKASKASLDFKRYVTDRRLAETLAQIYLGKPSRPPHLLLECNPGPGILTQALLEAGAKV
VALESDKTFIPHLESLGKNLDGKLRVIHCDFFKLDPRSGGVIKPPAMSSRGLFKNLGIEA
VPWTADIPLKVVGMFPSRGEKRALWKLAYDLYSCTSIYKFGRIEVNMFIGEKEFQKLMAD
PGNPDLYHVLSVIWQLACEIKVLHMEPWSSFDIYTRKGPLENPKRRELLDQLQQKLYLIQ
MIPRQNLFTKNLTPMNYNIFFHLLKHCFGRRSATVIDHLRSLTPLDARDILMQIGKQEDE
KVVNMHPQDFKTLFETIERSKDCAYKWLYDETLEDR

Sequence length

396

Interactions

View interactions

	Reactome
			Mitochondrial transcription initiation Transcriptional activation of mitochondrial biogenesis

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Arthritis Infectious	Inhibit	33273525	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Associate	26605748	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	35577351	★★★★★ ★☆☆☆☆ Found in Text Mining only

TFB2M (transcription factor B2, mitochondrial)