RNU4-2
Chr 12q24.31RNA, U4 small nuclear 2
- Aliases:
- U4c, U4b, U4A
- MANE:
- ENST00000365668.2
Annotations refreshed 10 hours ago.
Predicted protein structure
No predicted 3D structure for RNU4-2. Non-coding genes and pseudogenes typically have no protein product.
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedIntellectual disability
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedRetinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSevere microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedChildhood onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Disease associations (Open Targets)
neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
0.68neurodevelopmental disorder
0.19Neurodevelopmental delay
0.02inborn mitochondrial metabolism disorder
0.01mitochondrial disease
0.01osteoporosis
0.01retinitis pigmentosa 1
0.01cancer
0.01Intellectual disability
0.00colonic neoplasm
0.00
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.