RNU4-2 RNA, U4 small nuclear 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNU4-2provided by HGNC
Official Full Name: RNA, U4 small nuclear 2provided by HGNC
Primary source: HGNC:HGNC:10193
See related: Ensembl:ENSG00000202538 MIM:620823; AllianceGenome:HGNC:10193
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: U4A; U4b; U4c; RENU; RNU4C; RNU4B1; NEDHAFA; RNU4-1B
Summary: Predicted to enable U6 snRNA binding activity. Predicted to be involved in formation of quadruple SL/U4/U5/U6 snRNP and spliceosomal tri-snRNP complex assembly. Predicted to be part of U4 snRNP and U4/U6 x U5 tri-snRNP complex. [provided by Alliance of Genome Resources, Jun 2025]
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Genomic context

Location:: 12q24.23

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (120291759..120291903, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (120278937..120279081, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (120729562..120729706, complement)

Chromosome 12 - NC_000012.12 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?

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.
Title: Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Title: De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language MedGen: C5935628 OMIM: 620851 GeneReviews: Not available	not available

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Other Names

RNA, U4 small nuclear 1B
RNA, U4B1 small nuclear
RNA, U4C small nuclear

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.