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RNU4ATAC

Chr 2q14.2

RNA, U4atac small nuclear

Aliases:
RNU4ATAC1, U4atac
MANE:
ENST00000580972.2

Annotations refreshed 1 month ago.

Predicted protein structure

No predicted 3D structure for RNU4ATAC. Non-coding genes and pseudogenes typically have no protein product.

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited bleeding disorders

    BIALLELIC, autosomal or pseudoautosomal
  • IUGR and IGF abnormalities

    BIALLELIC, autosomal or pseudoautosomal
  • Limb disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

  • Roifman syndrome

    0.65
  • microcephalic osteodysplastic primordial dwarfism type I

    0.64
  • Lowry-Wood syndrome

    0.63
  • RNU4ATAC spectrum disorder

    0.42
  • microcephalic osteodysplastic primordial dwarfism type II

    0.37
  • microcephalic osteodysplastic primordial dwarfism

    0.37
  • microcephalic primordial dwarfism

    0.37
  • microcephalic osteodysplastic primordial dwarfism types I and III

    0.37
  • microcephaly

    0.19
  • Growth delay

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.