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

Summary

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.

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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 Variation Viewer (GRCh37.p13)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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

EC 2.5.1.114

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)

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