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Gene

RNU4ATAC

RNA, U4atac small nuclear

Summary

Cytogenetic location
2q14.2
Coordinates
Chromosome 2: 121,530,880–121,531,009 (GRCh38)
Exons
1 exon across 0.1 kb
Inheritance
Autosomal recessive
Also known as
RNU4ATAC1, U4atac
MANE Select transcript
ENST00000580972.2NR_023343.3
Locus type
RNA, small nuclear

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Immuno-Osseous Dysplasias

    • Roifman syndromeAutosomal recessive

      Caused by changes in the RNU4ATAC gene, it combines skeletal dysplasia, reduced antibody production, retinal changes and developmental delay.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Recognition allows antibody replacement therapy where needed and appropriate developmental and eye follow-up.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How RNU4ATAC is laid out

  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 2, with a bracket where RNU4ATAC sits. RNU4ATAC and 4 genes near it on chromosome 2, from 121,030,945 to 122,030,944.Chromosome 22q14.2p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3121.2 Mb121.4 Mb121.6 Mb121.8 Mb122 MbTFCP2L1: 121,216,587–121,285,263, reverse strandTFCP2L1CLASP1: 121,337,776–121,649,599, reverse strandCLASP1RNU4ATAC: 121,530,880–121,531,009, forward strandRNU4ATACNIFK: 121,724,715–121,737,120, reverse strandNIFKTSN: 121,737,103–121,767,871, forward strandTSNDiagram of RNU4ATAC: one exon on the forward strand of chromosome 2Exon 1: 23 known disease-causing sitesExon 1: 121,530,880–121,531,009, 130 bases15′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 0.1 kb of the gene's 0.1 kb.

How a genome test reads RNU4ATAC

23

positions in RNU4ATAC where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 0.1 kb of RNU4ATAC, introns included, not only the 0.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). RNU4ATAC gene: RNA, U4atac small nuclear. Retrieved 16 October 2026, from https://dantelabs.com/genes/rnu4atac

Vancouver

Dante Labs. RNU4ATAC gene: RNA, U4atac small nuclear [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/rnu4atac

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