UTP18

protein-coding

UTP18 small subunit processome component, the group of WD repeat domain containing|UTPb subcomplex

Gene summary

Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Located in nucleolus. Part of small-subunit processome. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

WDR50

MANE transcript

NM_016001.3

Inheritance

—

ClinVar variants

U:101B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.36

Max pathogenic AF

—

Genomic locus

chr17:51,260,546-51,297,936

External References & Databases

Ensembl (ENSG00000011260)

Transcript & Mutation Effects

hg38 • Region Span ~37.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UTP18 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 95

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016001.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			96 clinvar	2 clinvar		98
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	101	2	0	103

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 40 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016001.3	RefSeq	NP_057085.2	13	MANE Select
ENST00000225298.12	Ensembl	ENSP00000225298.7	13	MANE Select
ENST00000508506.3	Ensembl	ENSP00000441335.2	2	Standard
ENST00000579261.6	Ensembl	ENSP00000464194.2	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Ribosome biogenesis in eukaryotes - Homo sapiens (human)
rRNA processing
Metabolism of RNA
rRNA modification in the nucleus and cytosol
rRNA processing in the nucleus and cytosol

Biological Process

rRNA processing

Molecular Function

RNA binding

Cellular Component

nucleus
nucleoplasm
nucleolus
nuclear membrane
small-subunit processome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000225298
Coding exons: 13
Length: 37409
Individuals with no LoFs: 124759
Homozygous LoFs: 0
Heterozygous LoFs: 36
Defined: 124795
p: 0.000144

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.208	304	294	1.03	0.0000143	3631
Missense (PolyPhen)		54	60.253	0.89622		812
Synonymous	-1.20	125	109	1.15	0.00000543	1051
Loss of Function	2.97	9	25.0	0.359	0.00000106	359

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0.00035	0.00035	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00034	0.00033	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000072	0.000071	rare
South Asian	0.00024	0.00023	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in nucleolar processing of pre-18S ribosomal RNA. {ECO:0000250}.;

Recessive Scores

pRec: 0.0839

Intolerance Scores

LoFtool: 0.445
RVIS EVS: 0.11
RVIS percentile EVS: 61.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.991

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium