HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
UTY
ubiquitously transcribed tetratricopeptide repeat containing, Y-linked
Chromosome Y · Yq11.221
NCBI Gene: 7404Ensembl: ENSG00000183878.16HGNC: HGNC:12638UniProt: A0A087X0Y2
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingchromatin DNA bindinghistone H3K27me2/H3K27me3 demethylase activityheart developmentautismataxia telangiectasiaamyotrophic lateral sclerosisbreast carcinoma
✦AI Summary

UTY is a Y-chrY-encoded histone demethylase that catalyzes H3K27me3 demethylation 1, though it exhibits weaker enzymatic activity compared to its X-chromosome Y UTX 2. Beyond its canonical demethylase function, UTY forms phase-separated liquid condensates that mediate chrY regulation, though with reduced molecular dynamics relative to UTX 2. In spermatogenesis, UTY plays a critical role in regulating spermatogonial proliferation and is part of the AZFa locus essential for male fertility 31. UTY undergoes exceptional alternative splicing generating over 1.3 billion theoretical transcripts, contributing unique protein isoforms with distinct interactors 4. Clinically, UTY serves as a male-specific minor histocompatibility antigen presenting HLA-B8-restricted epitopes 5, relevant in sex-mismatched transplantation. While mutations in its X-linked paralog KDM6A cause Kabuki syndrome type 2, screening of male patients has not identified comparable UTY mutations as a disease cause 6. UTY's functional importance is evidenced by its conservation across mammalian species and its role in normal gonadal development, contrasting with earlier assumptions of functional redundancy with UTX 7.

Sources cited
1
UTY regulates spermatogonial proliferation and is essential for normal spermatogenesis
PMID: 39847625
2
UTY forms phase-separated condensates with reduced molecular dynamics compared to UTX; demonstrates weaker tumor-suppressive activity
PMID: 34526716
3
UTY encodes histone H3K27 demethylase; is part of AZFa locus supporting spermatogonial proliferation-differentiation balance
PMID: 35128450
4
UTY is Y chromosome homolog of KDM6A with functional role in metabolism and development despite earlier assumptions of non-functionality
PMID: 31097364
5
UTY undergoes extensive alternative splicing generating theoretical yield exceeding 1.3 billion distinct transcripts
PMID: 21329462
6
UTY encodes HLA-B8-restricted male-specific minor histocompatibility antigen relevant in sex-mismatched transplantation
PMID: 10679124
7
KDM6A mutations cause Kabuki syndrome type 2; screening of male patients for UTY mutations in KS phenotype
PMID: 27302555
Disease Associationsⓘ20
autismOpen Targets
0.31Weak
ataxia telangiectasiaOpen Targets
0.06Suggestive
amyotrophic lateral sclerosisOpen Targets
0.06Suggestive
breast carcinomaOpen Targets
0.06Suggestive
multiple sclerosisOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.02Suggestive
neuroblastomaOpen Targets
0.02Suggestive
gonadoblastomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
dysgerminomaOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
prostate cancerOpen Targets
0.01Suggestive
46,XY complete gonadal dysgenesisOpen Targets
0.01Suggestive
disorder of sexual differentiationOpen Targets
0.01Suggestive
clear cell renal carcinomaOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
bladder transitional cell carcinomaOpen Targets
0.01Suggestive
azoospermiaOpen Targets
0.01Suggestive
intrahepatic cholangiocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DDX3XProtein interaction100%USP9YProtein interaction100%ATP5F1AProtein interaction100%ATP5PDProtein interaction100%ATP5POProtein interaction100%ATP5PBProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
96%
Liver
74%
Ovary
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
UTYDDX3XUSP9YATP5F1AATP5PDATP5POATP5PB
PROTEIN STRUCTURE
Preparing viewer…
PDB4UF0 · 1.78 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.60Moderately Constrained
pLIⓘ
0.69Intermediate
Observed/Expected LoF0.37 [0.24–0.60]
RankingsWhere UTY stands among ~20K protein-coding genes
  • #9,818of 20,598
    Most Researched43
  • #4,093of 17,882
    Most Constrained (LOEUF)0.60 · top quartile
Genes detectedUTY
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Systematic identification of Y-chromosome gene functions in mouse spermatogenesis.
PMID: 39847625
Science · 2025
1.00
2
UTX condensation underlies its tumour-suppressive activity.
PMID: 34526716
Nature · 2021
0.90
3
AZFa candidate gene
PMID: 35128450
Reprod Fertil · 2021
0.80
4
Lysine demethylases KDM6A and UTY: The X and Y of histone demethylation.
PMID: 31097364
Mol Genet Metab · 2019
0.70
5
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
PMID: 27302555
Hum Mutat · 2016
0.60