RNU4-2

Summary

RNU4-2 (RNA, U4 small nuclear 2, HGNC:10193) is a small nuclear RNA gene on chromosome 12q24.31.

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.

Source: NCBI Gene 26834 — RefSeq curated summary.

At a glance

• Gene type: non-coding (snRNA) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10193
Approved symbol	RNU4-2
Name	RNA, U4 small nuclear 2
Location	12q24.31
Locus type	RNA, small nuclear
Status	Approved
Aliases	U4c, U4b, U4A
Ensembl gene	ENSG00000202538
Ensembl biotype	snRNA
OMIM	620823
Entrez	26834
RNAcentral	URS0002A14876 — snRNA, 145 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 snRNA

ENST00000365668

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000365668 — 1 exons

Exon	Start	End
ENSE00001807537	120291759	120291903

Expression profiles

Bgee: expression breadth ubiquitous, 110 present calls, max score 99.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 662.2707 / max 28444.6617, expressed in 1750 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
133622	662.2707	1750

Top tissues by expression

110 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	99.95	gold quality
sural nerve	UBERON:0015488	99.84	gold quality
corpus callosum	UBERON:0002336	99.03	gold quality
calcaneal tendon	UBERON:0003701	96.80	gold quality
granulocyte	CL:0000094	91.23	gold quality
bone marrow	UBERON:0002371	86.77	gold quality
blood	UBERON:0000178	86.71	gold quality
monocyte	CL:0000576	86.53	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.75	gold quality
skeletal muscle tissue	UBERON:0001134	84.01	gold quality
liver	UBERON:0002107	83.22	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	82.83	gold quality
islet of Langerhans	UBERON:0000006	82.45	gold quality
pancreas	UBERON:0001264	79.17	gold quality
kidney	UBERON:0002113	78.55	gold quality
subcutaneous adipose tissue	UBERON:0002190	77.74	gold quality
muscle of leg	UBERON:0001383	77.13	gold quality
body of pancreas	UBERON:0001150	77.06	gold quality
duodenum	UBERON:0002114	76.91	gold quality
cerebellar hemisphere	UBERON:0002245	76.50	gold quality
endometrium	UBERON:0001295	76.12	gold quality
lymph node	UBERON:0000029	75.94	gold quality
stomach	UBERON:0000945	75.82	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.81	gold quality
adipose tissue	UBERON:0001013	75.75	gold quality
gastrocnemius	UBERON:0001388	75.57	gold quality
adult mammalian kidney	UBERON:0000082	75.41	gold quality
thoracic mammary gland	UBERON:0005200	75.32	gold quality
putamen	UBERON:0001874	75.30	gold quality
lung	UBERON:0002048	75.23	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TFAP2A

Literature-anchored findings (GeneRIF, showing 2)

• Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. (PMID:38821540)
• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. (PMID:38991538)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.