RNU2-1

Summary

RNU2-1 (RNA, U2 small nuclear 1, HGNC:10142) is a small nuclear RNA gene on chromosome 17q12.

The spliceosome is a multicomponent ribonucleoprotein complex that catalyzes the removal of introns from nuclear mRNA precursors. The spliceosome is composed of four small ribonucleoprotein particles (the U1, U2, and U4/U6 snRNPs) and numerous additional proteins. The U2 small nuclear RNA (snRNA) is a RNA component of the U2 snRNP that interacts with the 3’ region of the intron at the branch site. Several sites in the human genome express U2 snRNAs. This locus represents an array of U2 snRNA genes located at 17q21-22 that undergoes concerted evolution to homogenize repeat units within the array. Each repeat in this array is approximately 6.1 kb long and contains a single copy of the U2 snRNA. Arrays of six to more than 30 repeats have been reported.

Source: NCBI Gene 6066 — 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:10142
Approved symbol	RNU2-1
Name	RNA, U2 small nuclear 1
Location	17q12
Locus type	RNA, small nuclear
Status	Approved
Aliases	U2
Ensembl gene	ENSG00000274585
Ensembl biotype	snRNA
OMIM	180690
Entrez	6066
RNAcentral	URS00003EE995 — snRNA, 188 nt, 3 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 snRNA

ENST00000618664

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000618664 — 1 exons

Exon	Start	End
ENSE00003729184	43233790	43233977

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 99.88.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	99.88	gold quality
sural nerve	UBERON:0015488	99.53	gold quality
calcaneal tendon	UBERON:0003701	99.16	gold quality
corpus callosum	UBERON:0002336	95.72	gold quality
bone marrow	UBERON:0002371	88.00	gold quality
subcutaneous adipose tissue	UBERON:0002190	85.34	gold quality
monocyte	CL:0000576	83.34	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.35	gold quality
thoracic mammary gland	UBERON:0005200	82.24	gold quality
hindlimb stylopod muscle	UBERON:0004252	81.49	gold quality
adipose tissue	UBERON:0001013	78.89	gold quality
liver	UBERON:0002107	76.12	gold quality
blood	UBERON:0000178	76.08	gold quality
granulocyte	CL:0000094	75.39	gold quality
tibial nerve	UBERON:0001323	73.85	gold quality
skin of leg	UBERON:0001511	73.71	gold quality
zone of skin	UBERON:0000014	73.09	gold quality
skin of abdomen	UBERON:0001416	72.69	gold quality
skeletal muscle tissue	UBERON:0001134	72.22	gold quality
mucosa of transverse colon	UBERON:0004991	71.98	gold quality
omental fat pad	UBERON:0010414	71.53	gold quality
muscle tissue	UBERON:0002385	71.51	gold quality
muscle of leg	UBERON:0001383	71.44	gold quality
gastrocnemius	UBERON:0001388	70.97	gold quality
right lobe of liver	UBERON:0001114	70.73	gold quality
ventricular zone	UBERON:0003053	70.64	gold quality
right lobe of thyroid gland	UBERON:0001119	70.05	gold quality
ganglionic eminence	UBERON:0004023	69.53	gold quality
thyroid gland	UBERON:0002046	69.42	gold quality
transverse colon	UBERON:0001157	68.85	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

Upstream regulators (CollecTRI, top): OLIG2, POU2F1, POU2F2, SPDEF, TP53

Literature-anchored findings (GeneRIF, showing 7)

• the C-terminal domain (CTD) of RNA polymerase II is required for efficient U2 snRNA transcription (PMID:14701755)
• Observations indicate conformational heterogeneity in the protein-free human U2-U6 snRNA complex consistent with a model in which the RNA has sufficient conformational flexibility to facilitate inter-conversion between steps of splicing in situ. (PMID:23426875)
• RNU2-1 is a new bi-functional ncRNA that produces a 19-22nt fragment which may be useful in detecting lung cancer non-invasively in high risk patients. (PMID:23527303)
• Data suggest that the measurement of RNU2-1 fragments detected in the bile fluid can be used as a diagnostic marker for cholangiocarcinoma. (PMID:24482036)
• Data suggest that protein-protein interactions localize U2A’ (SNRPA1) to the U2 snRNP (U2 small nuclear ribonucleoprotein) and exclude it from the U1 snRNP, rather than to enhance U2 snRNA (U2 small nuclear RNA; RNU2-1) binding of U2B’’ (SNRPB2). (PMID:24866816)
• suggest that the measurement of RNU2-1f detected in cerebrospinal fluid can be used as a diagnostic marker and also as a possible marker for treatment monitoring (PMID:26250566)
• We demonstrate that pseudouridylation levels in spliceosomal RNA U2 is dependent on the expression level of scaRNA1. Although further investigation is needed, we believe that scaRNA expression regulates biochemical modifications to spliceosomal RNAs, adjusting the fidelity of the spliceosome, allowing for controlled alternative splicing of mRNA that is important in embryonic development. (PMID:31953571)

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.