RNU12

Chr 22

RNA, U12 small nuclear

Also known as: CDAGS, RNU12-1, RNU12L, RNU12P, SCAR33, dJ222E13.7

NCBI Gene: 267010ENSG00000276027

Predicted to enable pre-mRNA branch point binding activity. Predicted to be involved in negative regulation of neuron apoptotic process. Predicted to act upstream of or within RNA splicing. Predicted to be part of U12 snRNP. Implicated in autosomal recessive spinocerebellar ataxia 33. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
RNU12-related minor spliceopathy disorder · ARModerateconsider for supplementary testing
0
Active trials
0
Pubs (1 yr)
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P/LP submissions
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P/LP missense
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LOEUF
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Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNU12 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients