UTP14C

protein-coding

UTP14C small subunit processome component, the group of SSU processome

Gene summary

Predicted to be involved in several processes, including meiotic cell cycle; rRNA processing; and spermatogenesis. Predicted to be part of small-subunit processome. Predicted to be active in nucleolus. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA0266

MANE transcript

NM_021645.6

Inheritance

—

ClinVar variants

U:109B:7

Top phenotype

ALG11-congenital disorder of glycosylation

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chr13:52,024,691-52,033,600

External References & Databases

Ensembl (ENSG00000253797)

Transcript & Mutation Effects

hg38 • Region Span ~8.9 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 UTP14C variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 100

ALG11-congenital disorder of glycosylationTotal: 21

not providedTotal: 12

Inborn genetic diseasesTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_021645.6. 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			2 clinvar	3 clinvar		5
missense			106 clinvar	4 clinvar		110
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	109	7	0	116

Highest pathogenic variant AF is 0.0000102609

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_021645.6	RefSeq	NP_067677.4	1	MANE Select
ENST00000521776.2	Ensembl	ENSP00000428619.1	1	MANE Select
ENST00001131899.1	Ensembl	ENSP00000813650.1	1	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
multicellular organism development
spermatogenesis
cell differentiation
meiotic cell cycle

Molecular Function

protein binding

Cellular Component

nucleolus
cytosol
small-subunit processome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000521776
Coding exons: 1
Length: 8910
Individuals with no LoFs: 125547
Homozygous LoFs: 1
Heterozygous LoFs: 200
Defined: 125748
p: 0.000800

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.472	398	372	1.07	0.0000197	5049
Missense (PolyPhen)		104	99.541	1.0448		1532
Synonymous	0.601	136	145	0.937	0.00000782	1476
Loss of Function	2.88	8	22.9	0.350	0.00000118	321

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0.0058	0.0057	notable
East Asian	0.00076	0.00076	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00042	0.00042	rare
South Asian	0.0035	0.0021	notable
Other	0.00082	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Essential for spermatogenesis. May be required specifically for ribosome biogenesis and hence protein synthesis during male meiosis (By similarity). {ECO:0000250, ECO:0000269|PubMed:15289605}.;

Intolerance Scores

RVIS EVS: 0.11
RVIS percentile EVS: 62.1

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.247

Gene Damage Prediction

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