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    RNU12 RNA, U12 small nuclear [ Homo sapiens (human) ]

    Gene ID: 267010, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RNU12provided by HGNC
    Official Full Name
    RNA, U12 small nuclearprovided by HGNC
    Primary source
    HGNC:HGNC:19380
    See related
    Ensembl:ENSG00000276027 MIM:620204; AllianceGenome:HGNC:19380
    Gene type
    snRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDAGS; RNU12L; RNU12P; SCAR33; RNU12-1; dJ222E13.7
    Summary
    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. [provided by Alliance of Genome Resources, Nov 2024]
    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 in Genome Data Viewer
    Location:
    22q13.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (42615244..42615393)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (43096110..43096259)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (43011250..43011399)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene serine hydrolase like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13831 Neighboring gene ribosomal RNA processing 7 homolog B, pseudogene Neighboring gene DNA polymerase delta interacting protein 3 Neighboring gene Sharpr-MPRA regulatory region 2357 Neighboring gene uncharacterized LOC124905127 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43009109-43009652 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43010197-43010740 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43010741-43011284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43019599-43020153 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43027517-43028018 Neighboring gene cytochrome b5 reductase 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43032221-43032758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43032759-43033294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43040225-43041216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13835 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13834 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:43045573-43046386 Neighboring gene ATP synthase membrane subunit g like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43082077-43082968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43082969-43083858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43083859-43084750 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43089063-43089584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43089979-43090480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43090481-43090980 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43094281-43094964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43094965-43095648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:43097017-43097700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:43098815-43099314 Neighboring gene alpha 1,4-galactosyltransferase (P1PK blood group) Neighboring gene ReSE screen-validated silencer GRCh37_chr22:43103268-43103479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19176 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13842

    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. Biallelic variants in RNU12 cause CDAGS syndrome. Xing C, et al. Hum Mutat, 2021 Aug. PMID 34085356
    2. The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability. Norppa AJ, et al. Nucleic Acids Res, 2021 Mar 18. PMID 33577674, Free PMC Article
    3. Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia. Elsaid MF, et al. Ann Neurol, 2017 Jan. PMID 27863452
    4. Functionally important structural elements of U12 snRNA. Sikand K, et al. Nucleic Acids Res, 2011 Oct. PMID 21737423, Free PMC Article
    5. Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: Evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations. Gläser B, et al. Am J Med Genet A, 2004 Apr 30. PMID 15054834

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic variants in RNU12 cause CDAGS syndrome.
      Title: Biallelic variants in RNU12 cause CDAGS syndrome.
    2. The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability.
      Title: The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability.
    3. Whole Genome Sequencing revealed a point mutation in noncoding RNA RNU12 that was associated with early onset cerebellar ataxia.
      Title: Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.
    4. 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.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Craniosynostosis-anal anomalies-porokeratosis syndrome
    MedGen: C1864186 OMIM: 603116 GeneReviews: Not available
    		Compare labs
    Spinocerebellar ataxia, autosomal recessive 33
    MedGen: C5774297 OMIM: 620208 GeneReviews: Not available
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Other Names

    • RNA, U12 small nuclear 1

    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.

    RNA

    1. NR_029422.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      J04119, Z93241
      Related
      ENST00000362512.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      42615244..42615393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      43096110..43096259
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NG_002405.1: Suppressed sequence

      Description
      NG_002405.1: This RefSeq was permanently suppressed because it is now thought that this gene expresses a functional snRNA
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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