RNU4-2
Chr 12ADRNA, U4 small nuclear 2
Also known as: NEDHAFA, RENU, RNU4-1B, RNU4B1, RNU4C, RP102, U4A, U4b
This gene encodes U4 small nuclear RNA, a component of the spliceosome that binds U6 snRNA and is essential for pre-mRNA splicing through formation of the U4/U6 x U5 tri-snRNP complex. Mutations cause ReNU syndrome with autosomal dominant inheritance. The syndrome involves defects in RNA splicing that affect multiple organ systems during development.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RNU4-2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools