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

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	64216
Gene name Gene Name - the full gene name approved by the HGNC.	Transcription factor B2, mitochondrial
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TFB2M
Synonyms (NCBI Gene) Gene synonyms aliases	Hkp1, h-mtTFB, h-mtTFB2, hTFB2M, mtTFB2
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	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(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000179	Function	RRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA	21873635
GO:0003712	Function	Transcription coregulator activity	IEA
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	IDA	12068295
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006355	Process	Regulation of transcription, DNA-templated	IEA
GO:0006390	Process	Mitochondrial transcription	IDA	12068295
GO:0006391	Process	Transcription initiation from mitochondrial promoter	IBA	21873635
GO:0006391	Process	Transcription initiation from mitochondrial promoter	IDA	20410300, 29149603
GO:0006391	Process	Transcription initiation from mitochondrial promoter	TAS
GO:0007005	Process	Mitochondrion organization	TAS
GO:0031167	Process	RRNA methylation	IBA	21873635
GO:0034246	Function	Mitochondrial transcription factor activity	IBA	21873635
GO:0034246	Function	Mitochondrial transcription factor activity	IDA	12068295, 29149603
GO:0042645	Component	Mitochondrial nucleoid	IDA	18063578

MIM	HGNC	e!Ensembl
607055	18559	ENSG00000162851

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining
Arthritis Infectious	Inhibit	33273525
Immunologic Deficiency Syndromes	Associate	26605748
Ovarian Neoplasms	Associate	35577351

TFB2M (transcription factor B2, mitochondrial)