RNU2-2

RNU2-2P
Identifiers
Aliases	RNU2-2P , RNU2-2, RNU2B, U2, RNA, U2 small nuclear 2, pseudogene
External IDs	GeneCards: RNU2-2P; OMA:RNU2-2P - orthologs
Orthologs Species Human Mouse Entrez 26855 n/a Ensembl ENSG00000222328 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search [1] n/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

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.