• Gene id: 80298

Gene Summary

• Gene Symbol: MTERF2   Gene   UCSC   Ensembl
• Aliases: MTERFD3, mTERFL
• Gene name: mitochondrial transcription termination factor 2
• Alternate names: transcription termination factor 2, mitochondrial, MTERF domain containing 3, mTERF domain-containing protein 3, mitochondrial, mTERF-like, mitochondrial transcription termination factor-like protein,
• Gene location: 12q23.3 (106987165: 106972855)     Exons: 4     NC_000012.12
• OMIM: 616929

Protein Summary

• Protein general information: Q49AM1  
  • Name: Transcription termination factor 2, mitochondrial (Mitochondrial transcription termination factor 2) (mTERF2) (Mitochondrial transcription termination factor like protein) (mTERF like) (mTERFL) (mTERF domain containing protein 3, mitochondrial)
  • Length: 385  
  • Mass: 44414
  • Tissue specificity: Expressed in skeletal muscle, heart, liver and pancreas. {ECO
• Sequence:

  MLWKLLLRSQSCRLCSFRKMRSPPKYRPFLACFTYTTDKQSSKENTRTVEKLYKCSVDIRKIRRLKGWVLLEDET
  YVEEIANILQELGADETAVASILERCPEAIVCSPTAVNTQRKLWQLVCKNEEELIKLIEQFPESFFTIKDQENQK
  LNVQFFQELGLKNVVISRLLTAAPNVFHNPVEKNKQMVRILQESYLDVGGSEANMKVWLLKLLSQNPFILLNSPT
  AIKETLEFLQEQGFTSFEILQLLSKLKGFLFQLCPRSIQNSISFSKNAFKCTDHDLKQLVLKCPALLYYSVPVLE
  ERMQGLLREGISIAQIRETPMVLELTPQIVQYRIRKLNSSGYRIKDGHLANLNGSKKEFEANFGKIQAKKVRPLF
  NPVAPLNVEE

• Structural information:
  • Interpro: IPR003690  IPR038538  
  • STRING: ENSP00000447651
• Other Databases: GeneCards:  MTERF2  Malacards:  MTERF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006393	termination of mitochondrial transcription	IBA	biological process
GO:0005759	mitochondrial matrix	IBA	cellular component
GO:0003676	nucleic acid binding	IBA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0042645	mitochondrial nucleoid	ISS	cellular component
GO:0003690	double-stranded DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042645	mitochondrial nucleoid	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0042645	mitochondrial nucleoid	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881