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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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UTP14C
UTP14C small subunit processome component
Chromosome 13 · 13q14.3
NCBI Gene: 9724Ensembl: ENSG00000253797.2HGNC: HGNC:20321UniProt: Q5TAP6
31PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsmall-subunit processomerRNA processingnucleolusALG11-congenital disorder of glycosylationneurodegenerative diseaseplacenta praeviagenetic disorder
✦AI Summary

UTP14C is a spermatogenesis-associated retrogene located on chromosome 13 that functions in male reproductive biology and ribosome biogenesis. As a component of the small-subunit processome, UTP14C is essential for 18S ribosomal RNA synthesis 1, supporting protein synthesis during male meiosis. The gene evolved as an intronless retroposon copy of the X-linked UTP14A housekeeping gene 1, and mutations introducing premature stop codons have been identified in azoospermic/oligospermic infertile males, indicating its critical role in normal spermatogenesis 1. Notably, UTP14C is aberrantly expressed in normal ovaries (>50%) and ovarian cancers (80%) 2, raising oncogenic concerns. The UTP14c protein may target TP53 for proteolytic degradation by analogy to UTP14a function, potentially preventing apoptosis and promoting ovarian cancer development through disrupted miR-145 signaling 3. Recent evidence shows UTP14C expression increases following IL1β stimulation in hippocampal neurons, contributing to neuroinflammatory responses in the context of neuropsychiatric disorders 4. In mice, Utp14b mutations cause spermatogenic arrest reversible by testicular temperature elevation, suggesting therapeutic potential for UTP14C-related human male infertility 5. Additionally, UTP14C shows sex-specific differential DNA methylation in schizophrenia patients 6, indicating broader roles in psychiatric disease biology.

Sources cited
1
UTP14C is a retrogene essential for spermatogenesis; encodes component of 18S rRNA synthesis machinery; mutations found in infertile males
PMID: 16354793
2
UTP14C expressed in normal ovaries and majority of ovarian cancers; testis-specific retrogene abnormally activated in female gonad pathology
PMID: 19333399
3
UTP14c may target TP53 for degradation and disrupt miR-145 signaling, predisposing to ovarian cancer
PMID: 22285623
4
Utp14b mutations in mice cause spermatogenic arrest reversible by testicular temperature elevation; suggests therapeutic approach for UTP14C-related infertility
PMID: 25303716
5
IL1β increases UTP14C expression in hippocampal neurons; involved in neuroinflammatory response
PMID: 40670679
6
UTP14C shows sex-specific differential DNA methylation in schizophrenia patients
PMID: 34966975
Disease Associationsⓘ20
ALG11-congenital disorder of glycosylationOpen Targets
0.51Moderate
neurodegenerative diseaseOpen Targets
0.29Weak
placenta praeviaOpen Targets
0.28Weak
genetic disorderOpen Targets
0.19Weak
congenital disorder of glycosylationOpen Targets
0.12Weak
azoospermiaOpen Targets
0.10Weak
partial chromosome Y deletionOpen Targets
0.09Suggestive
spermatogenic failure 50Open Targets
0.08Suggestive
spermatogenic failure 57Open Targets
0.08Suggestive
spermatogenic failure 25Open Targets
0.08Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.08Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
spermatogenic failure 48Open Targets
0.07Suggestive
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIN4Shared pathway100%RRP1Shared pathway100%WDR55Shared pathway100%YBEYShared pathway100%ESF1Shared pathway100%UTP15Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Brain
76%
Ovary
72%
Lung
67%
Heart
60%
Bone Marrow
13%
Gene Interaction Network
Click a node to explore
UTP14CPIN4RRP1WDR55YBEYESF1UTP15
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5TAP6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.10LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.40–1.10]
RankingsWhere UTP14C stands among ~20K protein-coding genes
  • #11,828of 20,598
    Most Researched31
  • #11,215of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedUTP14C
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Sex differences in schizophrenia: a longitudinal methylome analysis.
PMID: 34966975
J Neural Transm (Vienna) · 2022
1.00
2
The dietary ligands, omega-3 fatty acid endocannabinoids and short-chain fatty acids prevent cytokine-induced reduction of human hippocampal neurogenesis and alter the expression of genes involved in neuroinflammation and neuroplasticity.
PMID: 40670679
Mol Psychiatry · 2025
0.86
3
Does expression of the retrogene UTP14c in the ovary pre-dispose women to ovarian cancer?
PMID: 22285623
Med Hypotheses · 2012
0.71
4
Increasing testicular temperature by exposure to elevated ambient temperatures restores spermatogenesis in adult Utp14b (jsd) mutant (jsd) mice.
PMID: 25303716
Andrology · 2015
0.57
5
UTP14c is a recently acquired retrogene associated with spermatogenesis and fertility in man.
PMID: 16354793
Biol Reprod · 2006
0.43