RNU12 Chromosome 22
RNA, U12 small nuclear
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What This Gene Does
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]
Gene Info
Gene Group
"Small nuclear RNAs|U11/U12 di-snRNP"
Locus Type
RNA, small nuclear
Location
22q13.2
Ensembl
ENSG00000276027
Associated Conditions (3)
Craniosynostosis-anal anomalies-porokeratosis syndrome
Spinocerebellar ataxia
autosomal recessive 33
Key Variants
RS548281798
Likely pathogenic
Craniosynostosis-anal anomalies-porokeratosis syndrome, Spinocerebellar ataxia, autosomal recessive 33
Health Risk
RS562254327
Pathogenic
Spinocerebellar ataxia, autosomal recessive 33, Spinocerebellar ataxia
Health Risk
RS768684008
Pathogenic
Craniosynostosis-anal anomalies-porokeratosis syndrome, Spinocerebellar ataxia, autosomal recessive 33
Health Risk
RS906381816
Pathogenic
Craniosynostosis-anal anomalies-porokeratosis syndrome, Craniosynostosis-anal anomalies-porokeratosis syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS548281798 | Health Risk | Likely pathogenic | Craniosynostosis-anal anomalies-porokeratosis syndrome, Spinocerebellar ataxia, autosomal recessive 33 |
| RS562254327 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 33, Spinocerebellar ataxia |
| RS768684008 | Health Risk | Pathogenic | Craniosynostosis-anal anomalies-porokeratosis syndrome, Spinocerebellar ataxia, autosomal recessive 33 |
| RS906381816 | Health Risk | Pathogenic | Craniosynostosis-anal anomalies-porokeratosis syndrome, Craniosynostosis-anal anomalies-porokeratosis syndrome |