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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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