RNU4ATAC RNA, U4atac small nuclear [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNU4ATACprovided by HGNC
Official Full Name: RNA, U4atac small nuclearprovided by HGNC
Primary source: HGNC:HGNC:34016
See related: Ensembl:ENSG00000264229 MIM:601428; AllianceGenome:HGNC:34016
Gene type: snRNA
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LWS; RFMN; TALS; MOPD1; U4ATAC; RNU4ATAC1
Summary: The small nuclear RNA (snRNA) encoded by this gene is part of the U12-dependent minor spliceosome complex. In addition to the encoded RNA, this ribonucleoprotein complex consists of U11, U12, U5, and U6atac snRNAs. The U12-dependent spliceosome acts on approximately 700 specific introns in the human genome. Defects in this gene are a cause of microcephalic osteodysplastic primordial dwarfism type 1 (MOPD). [provided by RefSeq, Jul 2011]
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Genomic context

Location:: 2q14.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (121530880..121531009)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (121966167..121966296)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (122288456..122288585)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.
Title: Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.
Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
Title: Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
this study shows the immunologic and hematologic systems of 3 patients with Roifman syndrome from 2 unrelated kindreds bearing RNU4ATAC variants
Title: Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.
the identification of a novel RNU4ATAC variant within the mutational hotspot for MOPD1-causative variants further strengthens the critical role of the 5' stem-loop structure of U4atac in health and disease. Finally, this analysis enabled us to provide prenatal diagnosis and genetic counselling for the mother's third pregnancy, the first report of its kind in the context of inherited RNU4ATAC variants.
Title: Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
This report expands the phenotypic spectrum for biallelic RNU4ATAC disorder causing variants and is the first to establish the genetic cause for Lowry Wood syndrome
Title: The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
We are thus confirming that RNU4ATAC is the gene responsible for LWS and provide a genotype-phenotype correlation analysis
Title: Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
report on a novel 5.8 Mb deletion of 2q14.1q14.3 identified by array comparative genomic hybridization in a fetus with severe intrauterine growth retardation and partial agenesis of the corpus callosum.
Title: A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.
We report here four foetuses and four unrelated patients with RNU4ATAC mutations. We provide antenatal descriptions of this rare syndrome including unusual features found in two twin foetuses with compound heterozygosity for two rare mutations who presented with mild intrauterine growth retardation and atypical dysmorphic facial features.
Title: Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Title: Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
This report establishes a mechanistic basis for MOPD I disease and show that the inefficient splicing of genes containing U12-dependent introns in patient cells is due to defects in minor tri-snRNP formation, and the MOPD I-associated RNU4ATAC mutations can affect multiple facets of minor snRNA function.
Title: Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Lowry-Wood syndrome MedGen: C0796021 OMIM: 226960 GeneReviews: RNU4atac-opathy	Compare labs
Osteodysplastic primordial dwarfism, type 1 MedGen: C1859452 OMIM: 210710 GeneReviews: RNU4atac-opathy	Compare labs
Roifman syndrome MedGen: C1846059 OMIM: 616651 GeneReviews: RNU4atac-opathy	Compare labs

Variation

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Other Names

RNA, U4atac small nuclear (U12-dependent splicing)
U4atac snRNA

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables U6atac snRNA binding	IEA Inferred from Electronic Annotation more info
enables pre-mRNA 5'-splice site binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mRNA 5'-splice site recognition	IEA Inferred from Electronic Annotation more info
involved_in spliceosomal tri-snRNP complex assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of U4atac snRNP	IEA Inferred from Electronic Annotation more info

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.