RNU12

Summary

RNU12 (RNA, U12 small nuclear, HGNC:19380) is a small nuclear RNA gene on chromosome 22q13.2.

Predicted to enable pre-mRNA branch point binding activity. Predicted to be involved in negative regulation of neuron apoptotic process. Predicted to act upstream of or within RNA splicing. Predicted to be part of U12 snRNP. Implicated in autosomal recessive spinocerebellar ataxia 33.

Source: NCBI Gene 267010 — 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:19380
Approved symbol	RNU12
Name	RNA, U12 small nuclear
Location	22q13.2
Locus type	RNA, small nuclear
Status	Approved
Aliases	RNU12-1
Ensembl gene	ENSG00000276027
Ensembl biotype	snRNA
OMIM	620204
Entrez	267010
RNAcentral	URS00006ECA78 — snRNA, 150 nt, 2 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 snRNA

ENST00000362512

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000362512 — 1 exons

Exon	Start	End
ENSE00001437275	42615244	42615393

Expression profiles

Bgee: expression breadth broad, 93 present calls, max score 99.82.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.8405 / max 2286.9773, expressed in 1750 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
192572	35.8405	1750

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	99.82	gold quality
sural nerve	UBERON:0015488	98.96	gold quality
kidney	UBERON:0002113	92.41	gold quality
liver	UBERON:0002107	89.55	gold quality
calcaneal tendon	UBERON:0003701	88.65	gold quality
muscle tissue	UBERON:0002385	86.67	gold quality
adult mammalian kidney	UBERON:0000082	85.07	gold quality
blood	UBERON:0000178	77.41	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	75.37	gold quality
stomach	UBERON:0000945	75.13	gold quality
bone marrow	UBERON:0002371	74.82	gold quality
right lobe of liver	UBERON:0001114	73.33	gold quality
lung	UBERON:0002048	72.89	gold quality
heart	UBERON:0000948	70.50	gold quality
lymph node	UBERON:0000029	70.45	gold quality
adrenal gland	UBERON:0002369	70.43	gold quality
islet of Langerhans	UBERON:0000006	70.20	gold quality
monocyte	CL:0000576	69.96	gold quality
vermiform appendix	UBERON:0001154	69.79	gold quality
muscle of leg	UBERON:0001383	69.61	gold quality
placenta	UBERON:0001987	67.68	gold quality
gastrocnemius	UBERON:0001388	66.91	gold quality
fundus of stomach	UBERON:0001160	65.53	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	65.48	gold quality
intestine	UBERON:0000160	64.25	gold quality
Brodmann (1909) area 9	UBERON:0013540	64.10	gold quality
body of pancreas	UBERON:0001150	63.90	gold quality
prefrontal cortex	UBERON:0000451	63.57	gold quality
left coronary artery	UBERON:0001626	62.99	gold quality
ascending aorta	UBERON:0001496	62.60	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 4)

• ZRSR2 has a role in RNA splicing; dysregulated splicing of U12-type introns is a characteristic feature of ZRSR2 mutations in myelodysplastic syndrome (PMID:25586593)
• Whole Genome Sequencing revealed a point mutation in noncoding RNA RNU12 that was associated with early onset cerebellar ataxia. (PMID:27863452)
• The integrity of the U12 snRNA 3’ stem-loop is necessary for its overall stability. (PMID:33577674)
• Biallelic variants in RNU12 cause CDAGS syndrome. (PMID:34085356)

Cross-species orthologs

0 orthologs

Paralogs (1): RNU12-2P (ENSG00000201659)

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.