• Gene id: 154743

Gene Summary

• Gene Symbol: BMT2   Gene   UCSC   Ensembl
• Aliases: C7orf60, SAMTOR
• Gene name: base methyltransferase of 25S rRNA 2 homolog
• Alternate names: S-adenosylmethionine sensor upstream of mTORC1, UPF0532 protein C7orf60, probable methyltransferase BMT2 homolog, probable methyltransferase BTM2 homolog,
• Gene location: 7q31.1 (112939874: 112819146)     Exons: 5     NC_000007.14
• OMIM: 617855

Protein Summary

• Protein general information: Q1RMZ1  
  • Name: S adenosylmethionine sensor upstream of mTORC1 (Probable methyltransferase BMT2 homolog) (EC 2.1.1. )
  • Length: 405  
  • Mass: 46324
• Sequence:

  MEPGAGGRNTARAQRAGSPNTPPPREQERKLEQEKLSGVVKSVHRRLRKKYREVGDFDKIWREHCEDEETLCEYA
  VAMKNLADNHWAKTCEGEGRIEWCCSVCREYFQNGGKRKALEKDEKRAVLATKTTPALNMHESSQLEGHLTNLSF
  TNPEFITELLQASGKIRLLDVGSCFNPFLKFEEFLTVGIDIVPAVESVYKCDFLNLQLQQPLQLAQDAIDAFLKQ
  LKNPIDSLPGELFHVVVFSLLLSYFPSPYQRWICCKKAHELLVLNGLLLIITPDSSHQNRHAMMMKSWKIAIESL
  GFKRFKYSKFSHMHLMAFRKISLKTTSDLVSRNYPGMLYIPQDFNSIEDEEYSNPSCYVRSDIEDEQLAYGFTEL
  PDAPYDSDSGESQASSIPFYELEDPILLLS

• Structural information:
  • Interpro: IPR021867  IPR029063  
  • STRING: ENSP00000297145
• Other Databases: GeneCards:  BMT2  Malacards:  BMT2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016433	rRNA (adenine) methyltransferase activity	IBA	molecular function
GO:0005730	nucleolus	IBA	cellular component
GO:1990130	GATOR1 complex	IDA	colocalizes with
GO:0034198	cellular response to amino acid starvation	IDA	biological process
GO:1904047	S-adenosyl-L-methionine binding	IDA	molecular function
GO:0140007	KICSTOR complex	IDA	colocalizes with
GO:1904262	negative regulation of TORC1 signaling	IDA	biological process
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0008168	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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)