RNU2-1 RNA, U2 small nuclear 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RNU2-1provided by HGNC
Official Full Name: RNA, U2 small nuclear 1provided by HGNC
Primary source: HGNC:HGNC:10142
See related: Ensembl:ENSG00000274585 MIM:180690; AllianceGenome:HGNC:10142
Gene type: snRNA
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: U2; RNU2
Summary: 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. [provided by RefSeq, Mar 2009]
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Genomic context

Location:: 17q21.31

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (43233790..43233977, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_000017.11 Chromosome 17 Reference GRCh38.p14 Primary Assembly

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Title: scaRNA1 Levels Alter Pseudouridylation in Spliceosomal RNA U2 Affecting Alternative mRNA Splicing and Embryonic Development.
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
Title: Circulating U2 small nuclear RNA fragments as a novel diagnostic biomarker for primary central nervous system lymphoma.
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).
Title: Binding affinity and cooperativity control U2B″/snRNA/U2A' RNP formation.
Data suggest that the measurement of RNU2-1 fragments detected in the bile fluid can be used as a diagnostic marker for cholangiocarcinoma.
Title: Analysis of U2 small nuclear RNA fragments in the bile differentiates cholangiocarcinoma from primary sclerosing cholangitis and other benign biliary disorders.
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.
Title: Alternative processing of the U2 small nuclear RNA produces a 19-22nt fragment with relevance for the detection of non-small cell lung cancer in human serum.
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.
Title: Conformational heterogeneity of the protein-free human spliceosomal U2-U6 snRNA complex.
the C-terminal domain (CTD) of RNA polymerase II is required for efficient U2 snRNA transcription
Title: Role of the C-terminal domain of RNA polymerase II in U2 snRNA transcription and 3' processing.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D17S1324 (e-PCR)
- UniSTS:150081

stSG598251 (e-PCR)
- UniSTS:442975

REN65466 (e-PCR)
- UniSTS:390266

REN65467 (e-PCR)
- UniSTS:390267

REN65468 (e-PCR)
- UniSTS:390268

REN65469 (e-PCR)
- UniSTS:390269

REN65470 (e-PCR)
- UniSTS:390270

REN65471 (e-PCR)
- UniSTS:390271

REN65472 (e-PCR)
- UniSTS:390272

REN65473 (e-PCR)
- UniSTS:390273

REN65474 (e-PCR)
- UniSTS:390274

STS-T47095 (e-PCR)
- UniSTS:53636

GDB:196136 (e-PCR)
- UniSTS:155818

PMC150226P1 (e-PCR)
- UniSTS:271054

Orang-CT (e-PCR)
- UniSTS:62427

chimp-CT (e-PCR)
- UniSTS:62427

Gorilla-CT (e-PCR)
- UniSTS:62427

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables pre-mRNA branch point binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in mRNA branch site recognition	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of U2 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.