UTP14C

Chr 13

UTP14C small subunit processome component

Also known as: 2700066J21Rik, KIAA0266, UTP14B

NCBI Gene: 9724 ENSG00000253797 UniProt: Q5TAP6

UTP14C encodes a protein essential for spermatogenesis that is required for ribosome biogenesis and protein synthesis during male meiosis. Mutations cause male infertility due to impaired spermatogenesis, following an autosomal recessive inheritance pattern. This gene is not highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.63

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.63LOEUF

pLI 0.005

Z-score 2.88

OE 0.35 (0.20–0.63)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.47Z-score

OE missense 1.07 (0.98–1.16)

398 obs / 372.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.35 (0.20–0.63)

0≤0.351.4

Missense OE?1.07 (0.98–1.16)

0≤0.61.4

Synonymous OE?0.94

0≤1.21.6

LoF obs/exp: 8 / 22.9Missense obs/exp: 398 / 372.4Syn Z: 0.60

Background carrier burden — how many people carry a rare variant somewhere in UTP14C?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 59

881 rare PASS variants

Rare truncating (LoF)

1 in 650

112 rare PASS variants

Rare synonymous (reference)

1 in 130

337 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UTP14C. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 96	1 in 1,300
South Asian	~43k	1 in 58	1 in 460
Remaining (unassigned)	~30k	1 in 46	1 in 510
European (Finnish)	~27k	1 in 240	1 in 4,500
Admixed American	~22k	1 in 67	1 in 470
African / African American	~21k	1 in 55	1 in 430
East Asian	~20k	1 in 51	1 in 840
Ashkenazi Jewish	~13k	1 in 310	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 78	≈ 1 in 580

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓