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

Summary

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
Summary: Predicted to be involved in RNA processing. Predicted to be located in nucleolus. [provided by Alliance of Genome Resources, Oct 2024]
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Genomic context

Location:: 17p13.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (8173452..8173588, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (8079612..8079748, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (8076770..8076906, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Title: Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
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.
Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.
Title: Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.
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.
This report show cerebral microangiopathy caused by mutations in SNORD118.
Title: Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118.
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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Associated conditions

Description	Tests
Leukoencephalopathy with calcifications and cysts MedGen: C3281200 OMIM: 614561 GeneReviews: Not available	Compare labs

Variation

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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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.