Article · Wikipedia archive · Last revised Jul 22, 2026

RNU2-2

RNU2-2 is a snRNA gene that encodes one of the functional homologs of U2 spliceosomal RNA. RNU2-2 was previously thought to be a pseudogene, but it has been shown to be functional. Specific heterozygous variants in RNU2-2 cause an autosomal dominant developmental and epileptic encephalopathy, also called RNU2-2 syndrome.

Last revised
Jul 22, 2026
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≈ 1 min
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Citations
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RNU2-2P
Identifiers
AliasesRNU2-2P, RNU2-2, RNU2B, U2, RNA, U2 small nuclear 2, pseudogene
External IDsGeneCards: RNU2-2P; OMA:RNU2-2P - orthologs
Orthologs
SpeciesHumanMouse
Entrez

26855

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Ensembl

ENSG00000222328

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed search1n/a
Wikidata
View/Edit Human

RNU2-2 is a snRNA gene that encodes one of the functional homologs of U2 spliceosomal RNA. RNU2-2 was previously thought to be a pseudogene,2 but it has been shown to be functional.3 Specific heterozygous variants in RNU2-2 cause an autosomal dominant developmental and epileptic encephalopathy, also called RNU2-2 syndrome.4

References

References

  1. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  2. "Entrez Gene: RNA, U2 small nuclear 2". Retrieved 2013-02-27.
  3. Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, et al. (June 2025). "Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes". Nature Genetics. 57 (6): 1362–1366. doi:10.1038/s41588-025-02209-y. PMC 12165836. PMID 40442284.
  4. "Developmental and Epileptic Encephalopathy 119; DEE119". omim.org. Retrieved 2025-09-23.