SNORD118

Summary

SNORD118 (small nucleolar RNA, C/D box 118, HGNC:32952) is a small nucleolar RNA gene on chromosome 17p13.1.

Predicted to be involved in RNA processing. Predicted to be located in nucleolus.

Source: NCBI Gene 727676 — RefSeq curated summary.

At a glance

• Gene type: non-coding (snoRNA) — no protein product; not a drug target. Variant/disease associations are omitted (they would be positional, from an overlapping protein-coding gene).

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32952
Approved symbol	SNORD118
Name	small nucleolar RNA, C/D box 118
Location	17p13.1
Locus type	RNA, small nucleolar
Status	Approved
Aliases	U8
Ensembl gene	ENSG00000200463
Ensembl biotype	snoRNA
OMIM	616663
Entrez	727676
RNAcentral	URS00021EDA78 — snoRNA, 137 nt, 1 organism(s)

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 snoRNA

ENST00000363593

RefSeq mRNA: 0 — MANE Select: None

Canonical transcript exons

ENST00000363593 — 1 exons

Exon	Start	End
ENSE00001438356	8173452	8173588

Expression profiles

Bgee: expression breadth broad, 81 present calls, max score 99.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 85.4320 / max 8302.9346, expressed in 1794 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164411	85.4320	1794

Top tissues by expression

81 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	99.61	gold quality
kidney	UBERON:0002113	99.39	gold quality
adult mammalian kidney	UBERON:0000082	99.18	gold quality
adrenal tissue	UBERON:0018303	98.92	gold quality
lung	UBERON:0002048	92.64	gold quality
anterior cingulate cortex	UBERON:0009835	85.54	gold quality
blood	UBERON:0000178	84.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.41	gold quality
liver	UBERON:0002107	83.42	gold quality
adrenal gland	UBERON:0002369	82.29	gold quality
calcaneal tendon	UBERON:0003701	80.93	gold quality
leukocyte	CL:0000738	78.42	gold quality
monocyte	CL:0000576	78.10	gold quality
stomach	UBERON:0000945	74.88	gold quality
tibial nerve	UBERON:0001323	74.68	gold quality
heart	UBERON:0000948	73.32	gold quality
myometrium	UBERON:0001296	73.26	gold quality
hypothalamus	UBERON:0001898	72.70	gold quality
skeletal muscle tissue	UBERON:0001134	70.36	gold quality
duodenum	UBERON:0002114	69.02	gold quality
intestine	UBERON:0000160	68.37	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	68.05	gold quality
bone marrow	UBERON:0002371	68.00	gold quality
substantia nigra	UBERON:0002038	67.76	gold quality
muscle of leg	UBERON:0001383	67.75	gold quality
right lobe of thyroid gland	UBERON:0001119	67.63	gold quality
endometrium	UBERON:0001295	67.46	gold quality
subcutaneous adipose tissue	UBERON:0002190	67.27	gold quality
islet of Langerhans	UBERON:0000006	67.16	gold quality
gastrocnemius	UBERON:0001388	67.00	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 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 (PMID:27571260)
• This report show cerebral microangiopathy caused by mutations in SNORD118. (PMID:27793341)
• Biallelic SNORD118 mutations were exclusively found in most unrelated families with Leukoencephalopathy with brain calcifications and cysts (PMID:28177126)
• Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review. (PMID:31521395)
• Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation. (PMID:32361877)
• Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. (PMID:33029936)
• U8 variants on the brain: a small nucleolar RNA and human disease. (PMID:35389826)

Cross-species orthologs

0 orthologs

Protein

Non-coding RNA — no protein product; not a drug target.

Function

No curated pathway, Gene-Ontology, or interaction data.

Disease & clinical

No curated disease, variant, or cancer-driver associations.

Drugs & pharmacology

No drug or pharmacology data — not an established drug target.