• Gene id: 55039

Gene Summary

• Gene Symbol: TRMT12   Gene   UCSC   Ensembl
• Aliases: TRM12, TYW2
• Gene name: tRNA methyltransferase 12 homolog
• Alternate names: tRNA wybutosine-synthesizing protein 2 homolog, alpha-amino-alpha-carboxypropyl transferase TYW2, homolog of yeast tRNA methyltransferase, tRNA methyltranferase 12 homolog, tRNA(Phe) (4-demethylwyosine(37)-C(7)) aminocarboxypropyltransferase, tRNA-yW-synthesiz,
• Gene location: 8q24.13 (197804592: 198149872)     Exons: 10     NC_000002.12
• Gene summary(Entrez): Wybutosine (yW) is a hypermodified guanosine at the 3-prime position adjacent to the anticodon of phenylalanine tRNA that stabilizes codon-anticodon interactions during decoding on the ribosome. TRMT12 is the human homolog of a yeast gene essential for yW
• OMIM: 611244

Protein Summary

• Protein general information: Q53H54  
  • Name: tRNA wybutosine synthesizing protein 2 homolog (tRNA yW synthesizing protein 2) (EC 2.5.1.114) (tRNA(Phe) (4 demethylwyosine(37) C(7)) aminocarboxypropyltransferase)
  • Length: 448  
  • Mass: 50236
• Sequence:

  MRENVVVSNMERESGKPVAVVAVVTEPWFTQRYREYLQRQKLFDTQHRVEKMPDGSVALPVLGETLPEQHLQELR
  NRVAPGSPCMLTQLPDPVPSKRAQGCSPAQKLCLEVSRWVEGRGVKWSAELEADLPRSWQRHGNLLLLSEDCFQA
  KQWKNLGPELWETVALALGVQRLAKRGRVSPDGTRTPAVTLLLGDHGWVEHVDNGIRYKFDVTQCMFSFGNITEK
  LRVASLSCAGEVLVDLYAGIGYFTLPFLVHAGAAFVHACEWNPHAVVALRNNLEINGVADRCQIHFGDNRKLKLS
  NIADRVILGLIPSSEEGWPIACQVLRQDAGGILHIHQNVESFPGKNLQALGVSKVEKEHWLYPQQITTNQWKNGA
  TRDSRGKMLSPATKPEWQRWAESAETRIATLLQQVHGKPWKTQILHIQPVKSYAPHVDHIVLDLECCPCPSVG

• Structural information:
  • Interpro: IPR030382  IPR029063  
  • Prosite: PS51684
  • STRING: ENSP00000329858
• Other Databases: GeneCards:  TRMT12  Malacards:  TRMT12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030488	tRNA methylation	IBA	biological process
GO:0008175	tRNA methyltransferase activity	IBA	molecular function
GO:0005737	cytoplasm	IBA	cellular component
GO:0031591	wybutosine biosynthetic process	IBA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0102522	tRNA 4-demethylwyosine alpha-amino-alpha-carboxypropyltransferase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

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)