NSUN6

Chr 10AR

NOP2/Sun RNA methyltransferase 6

Also known as: 4933414E04Rik, ARL5B-AS1, MRT82, NOPD1

NCBI Gene: 221078 ENSG00000241058 UniProt: Q8TEA1 OMIM: 617199

This gene encodes a cytoplasmic S-adenosyl-L-methionine-dependent methyltransferase that specifically methylates cytosine at position 72 in specific tRNAs including tRNA(Thr) and tRNA(Cys). Biallelic mutations cause autosomal recessive intellectual developmental disorder 82. The gene appears tolerant to loss-of-function variants in the general population (LOEUF 1.479), suggesting that complete loss of function may require biallelic mutations to cause disease.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables tRNA (cytidine-N5)-methyltransferase activity and tRNA binding activity. Involved in tRNA C5-cytosine methylation. Located in cytoplasm. Implicated in autosomal recessive intellectual developmental disorder 82. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 82MIM #620779

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.48

LOEUF

LOF

Mechanism· G2P