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    SNORD115-48 small nucleolar RNA, C/D box 115-48 [ Homo sapiens (human) ]

    Gene ID: 100033822, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SNORD115-48provided by HGNC
    Official Full Name
    small nucleolar RNA, C/D box 115-48provided by HGNC
    Primary source
    HGNC:HGNC:33343
    See related
    Ensembl:ENSG00000201634 AllianceGenome:HGNC:33343
    Gene type
    snoRNA
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HBII-52-48
    Summary
    Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Dec 2024]
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    Genomic context

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    See SNORD115-48 in Genome Data Viewer
    Location:
    15q11.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (25269783..25269858)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (23006450..23006525)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (25514930..25515005)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 14 Neighboring gene small nucleolar RNA, C/D box 115-46 Neighboring gene small nucleolar RNA, C/D box 115-47 Neighboring gene small nucleolar RNA, C/D box 109B Neighboring gene Sharpr-MPRA regulatory region 5757 Neighboring gene ubiquitin protein ligase E3A Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr15:25683287-25684232 and GRCh37_chr15:25684233-25685178

    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. Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Runte M, et al. Hum Genet, 2005 Feb. PMID 15565282
    2. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Kishore S, et al. Science, 2006 Jan 13. PMID 16357227
    3. ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs. Vitali P, et al. J Cell Biol, 2005 Jun 6. PMID 15939761, Free PMC Article
    4. The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A. Runte M, et al. Hum Mol Genet, 2001 Nov 1. PMID 11726556
    5. Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization. Cavaillé J, et al. Proc Natl Acad Sci U S A, 2000 Dec 19. PMID 11106375, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 (GRCh37.p13)

    See Variation Viewer (GRCh38)

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in RNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleolus 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.

    RNA

    1. NR_003362.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AF250841
      Related
      ENST00000364764.1

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      25269783..25269858
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      23006450..23006525
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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    Chemical Information
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