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RNU12-2P RNA, U12 small nuclear 2, pseudogene [ Homo sapiens (human) ]

Gene ID: 26823, updated on 10-Oct-2023

Summary

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Official Symbol
RNU12-2Pprovided by HGNC
Official Full Name
RNA, U12 small nuclear 2, pseudogeneprovided by HGNC
Primary source
HGNC:HGNC:10109
See related
Ensembl:ENSG00000201659 AllianceGenome:HGNC:10109
Gene type
pseudo
RefSeq status
INFERRED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
U12; RNU12; RNU12P
Annotation information
Note: After build 37.1, NCBI noted that the annotation of the human U12 snRNA gene and pseudogene were incorrect. In October, 2009, geneID:267010 at 22q13 was updated to represent the functional gene, and geneID:26823 at Xp11 was updated to represent the pseudogene. [13 Feb 2013]
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Genomic context

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See RNU12-2P in Genome Data Viewer
Location:
Xp11.3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (47132672..47132824)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (46542393..46542545)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (46992071..46992223)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1189, pseudogene Neighboring gene regucalcin Neighboring gene uncharacterized LOC105373193 Neighboring gene uncharacterized LOC107985720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29580 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29581 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29582 Neighboring gene NADH:ubiquinone oxidoreductase subunit B11 Neighboring gene RNA binding motif protein 10 Neighboring gene ITPK1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Solution structure of the U11-48K CHHC zinc-finger domain that specifically binds the 5' splice site of U12-type introns. Tidow H, et al. Structure, 2009 Feb 13. PMID 19217400
  2. U12 snRNA in vertebrates: evolutionary conservation of 5' sequences implicated in splicing of pre-mRNAs containing a minor class of introns. Tarn WY, et al. RNA, 1995 Aug. PMID 7489523, Free PMC Article
  3. RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns. Doktor TK, et al. Nucleic Acids Res, 2017 Jan 9. PMID 27557711, Free PMC Article
  4. Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome. Madan V, et al. Nat Commun, 2015 Jan 14. PMID 25586593, Free PMC Article

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. U12-dependent intron retention is induced upon siRNA knock-down of SMN1 in HeLa cells.
    Title: RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns.
  2. ZRSR2 has a role in RNA splicing; dysregulated splicing of U12-type introns is a characteristic feature of ZRSR2 mutations in myelodysplastic syndrome
    Title: Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.
  3. Solution structure of the U11-48K CHHC zinc-finger domain that specifically binds the 5' splice site of U12-type introns.
    Title: Solution structure of the U11-48K CHHC zinc-finger domain that specifically binds the 5' splice site of U12-type introns.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Other Names

  • RNA, U12 small nuclear pseudogene

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.

Genomic

  1. NG_013273.2 

    Range
    101..253
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    47132672..47132824
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    46542393..46542545
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NR_000041.2: Suppressed sequence

    Description
    NR_000041.2: This RefSeq was permanently suppressed because it is now thought that this gene is a pseudogene.
Nucleotide Protein
Heading Accession and Version

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