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    TRMT12 tRNA methyltransferase 12 homolog [ Homo sapiens (human) ]

    Gene ID: 55039, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TRMT12provided by HGNC
    Official Full Name
    tRNA methyltransferase 12 homologprovided by HGNC
    Primary source
    HGNC:HGNC:26091
    See related
    Ensembl:ENSG00000183665 MIM:611244; AllianceGenome:HGNC:26091
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TYW2; TRM12
    Summary
    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 synthesis (Noma and Suzuki, 2006).[supplied by OMIM, Mar 2008]
    Orthologs
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    Genomic context

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    See TRMT12 in Genome Data Viewer
    Location:
    8q24.13
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (124450820..124453026)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (125583484..125585689)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (125463061..125465267)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene transcription factor SOX-2-like Neighboring gene transmembrane protein 65 Neighboring gene MPRA-validated peak7161 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19508 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19509 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19511 Neighboring gene Sharpr-MPRA regulatory region 2045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27881 Neighboring gene MPRA-validated peak7162 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125440961-125441462 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:125443461-125444276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:125452571-125453070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:125483735-125484236 Neighboring gene RNF139 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27882 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125486486-125487030 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125487031-125487576 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:125487577-125488120 Neighboring gene ring finger protein 139 Neighboring gene TatD DNase domain containing 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Epigenetic loss of the transfer RNA-modifying enzyme TYW2 induces ribosome frameshifts in colon cancer. Rosselló-Tortella M, et al. Proc Natl Acad Sci U S A, 2020 Aug 25. PMID 32778592, Free PMC Article
    2. Chromosome 8 BAC array comparative genomic hybridization and expression analysis identify amplification and overexpression of TRMT12 in breast cancer. Rodriguez V, et al. Genes Chromosomes Cancer, 2007 Jul. PMID 17440925
    3. Structure-function analysis of human TYW2 enzyme required for the biosynthesis of a highly modified Wybutosine (yW) base in phenylalanine-tRNA. Rodriguez V, et al. PLoS One, 2012. PMID 22761755, Free PMC Article
    4. A novel methyltransferase required for the formation of the hypermodified nucleoside wybutosine in eucaryotic tRNA. Kalhor HR, et al. Biochem Biophys Res Commun, 2005 Aug 26. PMID 16005430
    5. Ribonucleome analysis identified enzyme genes responsible for wybutosine synthesis. Noma A, et al. Nucleic Acids Symp Ser (Oxf), 2006. PMID 17150819

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Epigenetic loss of the transfer RNA-modifying enzyme TYW2 induces ribosome frameshifts in colon cancer.
      Title: Epigenetic loss of the transfer RNA-modifying enzyme TYW2 induces ribosome frameshifts in colon cancer.
    2. analysis by RT-qPCR using RNA from 30 breast tumors showed TRMT12 was overexpressed >2 fold in 87% of the tumors. TRMT12 is a homologue of a yeast gene encoding a tRNA methyltransferase involved in the posttranscriptional modification of tRNA(Phe)
      Title: Chromosome 8 BAC array comparative genomic hybridization and expression analysis identify amplification and overexpression of TRMT12 in breast cancer.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20772

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables tRNA 4-demethylwyosine alpha-amino-alpha-carboxypropyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables tRNA methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in tRNA methylation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in wybutosine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tRNA wybutosine-synthesizing protein 2 homolog
    Names
    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-synthesizing protein 2
    NP_060426.2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_017956.4 → NP_060426.2  tRNA wybutosine-synthesizing protein 2 homolog

      See identical proteins and their annotated locations for NP_060426.2

      Status: VALIDATED

      Source sequence(s)
      AA608716, AK222727, BP342608
      Consensus CDS
      CCDS6349.1
      UniProtKB/Swiss-Prot
      Q53H54, Q6PKB9, Q96F21, Q9NWK6
      Related
      ENSP00000329858.3, ENST00000328599.4
      Conserved Domains (2) summary
      COG2520
      Location:31 → 441
      Trm5; tRNA G37 N-methylase Trm5 [Translation, ribosomal structure and biogenesis]
      pfam12847
      Location:234 → 336
      Methyltransf_18; Methyltransferase domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      124450820..124453026
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      125583484..125585689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q53H54.1 GenPept UniProtKB/Swiss-Prot:Q53H54

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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