TFB2M (transcription factor B2, mitochondrial)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 64216
• Gene name: Transcription factor B2, mitochondrial
• Gene symbol: TFB2M
• Synonyms (NCBI Gene): Hkp1, h-mtTFB, h-mtTFB2, hTFB2M, mtTFB2
• Chromosome: 1
• Chromosome location: 1q44

miRNA 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

Gene ontology (GO) 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

Other IDs

• MIM: 607055
• HGNC: 18559
• e!Ensembl: 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

Pathways

Reactome Pathway

Mitochondrial transcription initiation

Transcriptional activation of mitochondrial biogenesis

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (8)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis Infectious	Infective arthritis	Pubtator	33273525	Inhibit	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	20643228		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30414672		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	31676390		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35577351	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	18980857		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	30414672		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

POLRMT 2 shared pathwaysTranscriptional activation of mitochondrial biogenesis, Mitochondrial transcription initiation Related via 2 shared pathways including Transcriptional activation of mitochondrial biogenesis, Mitochondrial transcription initiation. TFAM 2 shared pathwaysTranscriptional activation of mitochondrial biogenesis, Mitochondrial transcription initiation Related via 2 shared pathways including Transcriptional activation of mitochondrial biogenesis, Mitochondrial transcription initiation.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
POLRMT	0	[]	2	["Transcriptional activation of mitochondrial biogenesis","Mitochondrial transcription initiation"]	0	[]
TFAM	0	[]	2	["Transcriptional activation of mitochondrial biogenesis","Mitochondrial transcription initiation"]	0	[]

Diseases Linked via Similar Genes

Progressive external ophthalmoplegia Linked via 1 of 2 related genesPOLRMT Combined oxidative phosphorylation deficiency Linked via 1 of 2 related genesPOLRMT Neurodevelopmental disorder Linked via 1 of 2 related genesPOLRMT Alzheimer disease Linked via 1 of 2 related genesTFAM Amyotrophic lateral sclerosis Linked via 1 of 2 related genesTFAM

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Progressive external ophthalmoplegia	1	["POLRMT"]
Combined oxidative phosphorylation deficiency	1	["POLRMT"]
Neurodevelopmental disorder	1	["POLRMT"]
Alzheimer disease	1	["TFAM"]
Amyotrophic lateral sclerosis	1	["TFAM"]