TRMT2A

Chr 22

tRNA methyltransferase 2A

Also known as: HTF9C

NCBI Gene: 27037 ENSG00000099899 UniProt: Q8IZ69

The encoded protein is an S-adenosyl-L-methionine-dependent methyltransferase that catalyzes the formation of 5-methyl-uridine in tRNAs and some mRNAs, primarily methylating uridine at position 54 in cytosolic tRNAs. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in early childhood. The gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is of unknown function. However, it is orthologous to the mouse Trmt2a gene and contains an RNA methyltransferase domain. Expression of this gene varies during the cell cycle, with aberrant expression being a possible biomarker in certain breast cancers. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.92

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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