RNU2-2
| RNU2-2P | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | RNU2-2P, RNU2-2, RNU2B, U2, RNA, U2 small nuclear 2, pseudogene | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | GeneCards: RNU2-2P; OMA:RNU2-2P - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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
[edit]- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Entrez Gene: RNA, U2 small nuclear 2". Retrieved 2013-02-27.
- ↑ 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.
- ↑ "Developmental and Epileptic Encephalopathy 119; DEE119". omim.org. Retrieved 2025-09-23.
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