• Gene id: 64216

Gene Summary

• Gene Symbol: TFB2M   Gene   UCSC   Ensembl
• Aliases: Hkp1, mtTFB2
• Gene name: transcription factor B2, mitochondrial
• Alternate names: dimethyladenosine transferase 2, mitochondrial, HCV NS5A-transactivated protein 5, S-adenosylmethionine-6-N', N'-adenosyl(rRNA) dimethyltransferase 2, h-mtTFB, h-mtTFB2, hTFB2M, hepatitis C virus NS5A-transactivated protein 5, mitochondrial 12S rRNA dimethylase ,
• Gene location: 1q44 (246566260: 246540560)     Exons: 8     NC_000001.11
• OMIM: 607055

Protein Summary

• Protein general information: Q9H5Q4  
  • 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)
  • Length: 396  
  • Mass: 45349
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MWIPVVGLPRRLRLSALAGAGRFCILGSEAATRKHLPARNHCGLSDSSPQLWPEPDFRNPPRKASKASLDFKRYV
  TDRRLAETLAQIYLGKPSRPPHLLLECNPGPGILTQALLEAGAKVVALESDKTFIPHLESLGKNLDGKLRVIHCD
  FFKLDPRSGGVIKPPAMSSRGLFKNLGIEAVPWTADIPLKVVGMFPSRGEKRALWKLAYDLYSCTSIYKFGRIEV
  NMFIGEKEFQKLMADPGNPDLYHVLSVIWQLACEIKVLHMEPWSSFDIYTRKGPLENPKRRELLDQLQQKLYLIQ
  MIPRQNLFTKNLTPMNYNIFFHLLKHCFGRRSATVIDHLRSLTPLDARDILMQIGKQEDEKVVNMHPQDFKTLFE
  TIERSKDCAYKWLYDETLEDR

• Structural information:
  • Interpro: IPR001737  IPR020598  IPR029063  IPR016861  
  • Prosite: PS51689
  • PDB: 6ERO 6ERP 6ERQ
  • PDBsum: 6ERO 6ERP 6ERQ
  • DIP: 50540
  • STRING: ENSP00000355471
• Other Databases: GeneCards:  TFB2M  Malacards:  TFB2M

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006391	transcription initiation from mitochondrial promoter	TAS	biological process
GO:0007005	mitochondrion organization	TAS	biological process
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0006390	mitochondrial transcription	IDA	biological process
GO:0034246	mitochondrial sequence-specific DNA-binding transcription factor activity	IDA	molecular function
GO:0034246	mitochondrial sequence-specific DNA-binding transcription factor activity	IDA	molecular function
GO:0005759	mitochondrial matrix	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0006390	mitochondrial transcription	IBA	biological process
GO:0031167	rRNA methylation	IBA	biological process
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	IBA	molecular function
GO:0006391	transcription initiation from mitochondrial promoter	IDA	biological process
GO:0006391	transcription initiation from mitochondrial promoter	IDA	biological process
GO:0000154	rRNA modification	IEA	biological process
GO:0006391	transcription initiation from mitochondrial promoter	IEA	biological process
GO:0000179	rRNA (adenine-N6,N6-)-dimethyltransferase activity	IEA	molecular function
GO:0003712	transcription coregulator activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0008649	rRNA methyltransferase activity	IEA	molecular function
GO:0031167	rRNA methylation	IEA	biological process

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)