NSUN2

Chr 5

NOP2/Sun RNA methyltransferase 2

Also known as: MISU, MRT5, SAKI, TRM4

NCBI Gene: 54888 ENSG00000037474 UniProt: Q08J23

The protein is an RNA cytosine methyltransferase that modifies cytosines in tRNAs, mRNAs, and other RNAs to stabilize these molecules and regulate protein synthesis. Mutations cause autosomal recessive intellectual developmental disorder. The gene is highly intolerant to loss-of-function variants (pLI near 0, LOEUF 0.531), suggesting that complete protein loss severely disrupts cellular RNA metabolism and normal development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Mar 2011]

ResearchGenerating clinical summary…

LOEUF 0.53

Clinical Summary— NSUN2

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Gene-Disease Validity (ClinGen)

RASopathy · ARDisputed

Disputed — evidence questions this relationship

2 total gene-disease associations curated

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.34) despite low pLI — interpret in context.

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