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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TSPY4
testis specific protein Y-linked 4
Chromosome Y · Yp11.2
NCBI Gene: 728395Ensembl: ENSG00000233803.9HGNC: HGNC:37287UniProt: A6NEC3
4PubMed Papers
3Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromatinhistone bindingchromatin bindingnucleusinfertilitycryptorchidisminfectious disease
✦AI Summary

TSPY4 (testis-specific protein Y-linked 4) is a Y-chromosome Y with roles in male germ cell biology and development. Functionally, TSPY4 is expressed as a highly germ cell-specific marker, particularly in spermatogonia during spermatogenesis 1, supporting its involvement in sperm differentiation and proliferation. The protein localizes to chrY and binds histones, suggesting roles in transcriptional regulation within the nucleus. Mechanism: TSPY4 belongs to the TSPY family of Y-encoded genes and may coordinate with related Y-chromosome Y in gene regulation. Related TSPYL family members regulate cytochrome P450 gene expression 2, suggesting similar transcriptional regulatory functions. Disease Relevance: TSPY4 mutations have been identified in juvenile nasopharyngeal angiofibromas (JNA), a locally aggressive head and neck tumor in young males, indicating potential involvement in neoplastic pathogenesis 3. Additionally, misregulation of TSPY4 expression may contribute to male infertility phenotypes 1. Clinical Significance: TSPY4 serves as a sensitive, sperm-specific biomarker for semen exposure in cervicovaginal fluids, detectable up to 72 hours post-exposure and occasionally up to 7 days 45. This application enables objective monitoring of protocol compliance in HIV prevention and contraceptive trials 6. Additionally, TSPY4 detection supports forensic male DNA identification 7 and tracks donor cell persistence in wound healing studies 8.

Sources cited
1
TSPY4 is a highly germ cell-specific marker for spermatogonia, supporting its role in spermatogenesis and sperm differentiation
PMID: 36446526
2
TSPY4 is a sensitive, sperm-specific biomarker detectable in cervicovaginal fluids for up to 72 hours post-semen exposure with lower detection threshold than SRY
PMID: 23312930
3
TSPY4 is detectable in approximately 50% of participants at 15 days post-exposure, serving as a biomarker for semen exposure in clinical trials
PMID: 27259675
4
TSPY4 mutations are prevalent in juvenile nasopharyngeal angiofibromas, suggesting involvement in Y-chromosome-linked neoplastic pathogenesis
PMID: 39297564
5
Related TSPYL family members (including TSPYL4) regulate CYP gene expression, suggesting transcriptional regulatory mechanisms
PMID: 29027195
6
TSPY4 enables objective determination of semen exposure for protocol compliance monitoring in HIV prevention studies
PMID: 25489736
7
TSPY4 detection in biopsies tracks donor cell persistence in wound healing studies
PMID: 33955178
8
TSPY4 serves as a Y-specific marker for rapid, sensitive forensic male DNA detection using isothermal amplification
PMID: 41702134
Disease Associationsⓘ3
cryptorchidismOpen Targets
0.00Suggestive
infertilityOpen Targets
0.00Suggestive
infectious diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NAP1L3Shared pathway100%NAP1L4Shared pathway100%TSPYL1Shared pathway100%H4C7Shared pathway100%TSPYL4Shared pathway100%TSPY2Shared pathway100%
Tissue Expression6 tissues
Liver
0%
Ovary
0%
Heart
0%
Brain
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TSPY4NAP1L3NAP1L4TSPYL1H4C7TSPYL4TSPY2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P0CV99
View on AlphaFold ↗
RankingsWhere TSPY4 stands among ~20K protein-coding genes
  • #18,785of 20,598
    Most Researched4
Genes detectedTSPY4
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
TSPY4 is a novel sperm-specific biomarker of semen exposure in human cervicovaginal fluids; potential use in HIV prevention and contraception studies.
PMID: 23312930
Contraception · 2013
1.00
2
A prospective clinical trial evaluating changes in the wound microenvironment in patients with chronic venous leg ulcers treated with a hypothermically stored amniotic membrane.
PMID: 33955178
Int Wound J · 2022
0.88
3
Comprehensive Analysis of Juvenile Nasopharyngeal Angiofibromas via Whole-Exome Sequencing.
PMID: 39297564
Genes Chromosomes Cancer · 2024
0.75
4
Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns.
PMID: 36446526
Life Sci Alliance · 2023
0.63
5
Assessment of the vaginal residence time of biomarkers of semen exposure.
PMID: 27259675
Contraception · 2016
0.50