Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

NSUN2

NOP2/Sun RNA methyltransferase 2

Chromosome
5
Cytoband
5p15.31
Variants (rsID)
12

NSUN2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 5 (region 5p15.31). Its official name is “NOP2/Sun RNA methyltransferase 2”. The reference table lists 12 variants (rsID) for this gene.

Clinically classified variants

3 reference-table entries with clinical significance.

  • rs112951498Benignsingle nucleotide variantIntellectual disability, autosomal recessive 5|History of neurodevelopmental disorder
  • rs140673211Conflicting interpretationssingle nucleotide variantIntellectual disability, autosomal recessive 5|History of neurodevelopmental disorder
  • rs200175285Uncertain significancesingle nucleotide variant

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.