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SNORD118 small nucleolar RNA, C/D box 118 [ Homo sapiens (human) ]

Gene ID: 727676, updated on 10-Oct-2023

Summary

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Official Symbol
SNORD118provided by HGNC
Official Full Name
small nucleolar RNA, C/D box 118provided by HGNC
Primary source
HGNC:HGNC:32952
See related
Ensembl:ENSG00000200463 MIM:616663; AllianceGenome:HGNC:32952
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
U8; LCC
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Genomic context

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Location:
17p13.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8173452..8173588, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8079612..8079748, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8076770..8076906, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene period circadian regulator 1 Neighboring gene microRNA 6883 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8053229-8053876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11666 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8163 Neighboring gene Sharpr-MPRA regulatory region 8148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8057595-8058375 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11670 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8169 Neighboring gene vesicle associated membrane protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11671 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11672 Neighboring gene uncharacterized LOC105371520 Neighboring gene transmembrane protein 107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11673 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11674 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8079237-8079848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:8079849-8080460 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8170 Neighboring gene tRNA-Trp (anticodon CCA) 3-3

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. U8 variants on the brain: a small nucleolar RNA and human disease. McFadden EJ, et al. RNA Biol, 2022. PMID 35389826, Free PMC Article
  2. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Crow YJ, et al. Am J Med Genet A, 2021 Jan. PMID 33029936
  3. Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation. Cullinane PW, et al. J Mol Neurosci, 2020 Sep. PMID 32361877
  4. Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review. Osman O, et al. Rev Neurol (Paris), 2020 Mar. PMID 31521395
  5. Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts. Iwama K, et al. Clin Genet, 2017 Aug. PMID 28177126

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. U8 variants on the brain: a small nucleolar RNA and human disease.
    Title: U8 variants on the brain: a small nucleolar RNA and human disease.
  2. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
    Title: Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
  3. Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation.
    Title: Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation.
  4. Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.
    Title: Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.
  5. Biallelic SNORD118 mutations were exclusively found in most unrelated families with Leukoencephalopathy with brain calcifications and cysts
    Title: Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
  6. This report show cerebral microangiopathy caused by mutations in SNORD118.
    Title: Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118.
  7. biallelic mutations in the gene SNORD118, encoding the box C/D snoRNA U8, cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (LCC), presenting at any age from early childhood to late adulthood
    Title: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.
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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
Leukoencephalopathy with calcifications and cysts
MedGen: C3281200 OMIM: 614561 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

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_056674.1 RefSeqGene

    Range
    5001..5137
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1204

RNA

  1. NR_033294.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC129492
    Related
    ENST00000363593.1

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    8173452..8173588 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    8079612..8079748 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Chemical Information
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