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5 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TSPYL6
TSPY like 6
Chromosome 2 · 2p16.2
NCBI Gene: 388951Ensembl: ENSG00000178021.11HGNC: HGNC:14521UniProt: A0A140VJY4
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingchromatin bindinghistone bindingchromatinidiopathic pulmonary fibrosisovarian dysfunctionchronic hepatitisbreast cancer
✦AI Summary

TSPYL6 (TSPY-like 6) is a chr2-associated protein with histone binding capacity that functions as a transcriptional regulator of cytochrome P450 genes. While primarily characterized as part of the TSPYL family of CYP gene regulators 1, TSPYL6 specifically has been identified as a cancer-testis antigen with potential immunotherapeutic relevance in growth hormone-secreting pituitary adenomas and non-functioning adenomas 2. Functionally, TSPYL6 likely operates through chr2 binding mechanisms to modulate gene expression, consistent with its nuclear localization and histone-binding properties. Clinically, TSPYL6 genetic variants show significant disease associations: polymorphisms correlate with altered breast cancer susceptibility in Han Chinese populations, with specific SNPs (rs11896604, rs843706, rs11125529, rs843711) demonstrating protective or risk-increasing effects 3. Additionally, TSPYL6 SNPs are associated with increased ischemic stroke risk, potentially through telomere length regulation as a marker of biological aging 4. TSPYL6 has also been identified as a novel candidate gene in primary ovarian insufficiency 5. These findings suggest TSPYL6 functions as a multi-system regulator with implications for cancer predisposition, vascular disease, and reproductive health.

Sources cited
1
TSPYL family members regulate CYP gene expression through transcriptional regulation mechanisms
PMID: 29027195
2
TSPYL6 is expressed as a cancer-testis antigen with potential immunotherapeutic targets in pituitary adenomas
PMID: 33034841
3
TSPYL6 SNPs (rs11896604, rs843706, rs11125529, rs843711) associate with breast cancer susceptibility in Han Chinese population
PMID: 27458158
4
TSPYL6 genetic variants associate with shorter telomere length and increased ischemic stroke risk
PMID: 27686078
5
TSPYL6 identified as a novel candidate gene in primary ovarian insufficiency
PMID: 24939957
Disease Associationsⓘ20
idiopathic pulmonary fibrosisOpen Targets
0.34Weak
ovarian dysfunctionOpen Targets
0.18Weak
chronic hepatitisOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.05Suggestive
Griscelli diseaseOpen Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.04Suggestive
Griscelli disease type 3Open Targets
0.04Suggestive
Griscelli syndrome type 3Open Targets
0.04Suggestive
Griscelli disease type 1Open Targets
0.04Suggestive
Griscelli syndrome type 1Open Targets
0.04Suggestive
Piebald trait - neurologic defectsOpen Targets
0.03Suggestive
piebald trait-neurologic defects syndromeOpen Targets
0.03Suggestive
hypotrichosis 8Open Targets
0.03Suggestive
isolated familial wooly hair disorderOpen Targets
0.03Suggestive
Woolly hairOpen Targets
0.03Suggestive
Clouston syndromeOpen Targets
0.03Suggestive
Waardenburg syndrome, IIa 2FOpen Targets
0.03Suggestive
postinflammatory pulmonary fibrosisOpen Targets
0.03Suggestive
disturbances of sensation of smell and tasteOpen Targets
0.02Suggestive
breast carcinomaOpen Targets
0.02Suggestive
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
Brain
100%
Ovary
71%
Liver
29%
Bone Marrow
14%
Lung
14%
Heart
0%
Gene Interaction Network
Click a node to explore
TSPYL6NAP1L3NAP1L4TSPYL1H4C7TSPYL4TSPY2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N831
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.76LoF Tolerant
pLIⓘ
0.39Tolerant
Observed/Expected LoF0.00 [0.00–1.76]
RankingsWhere TSPYL6 stands among ~20K protein-coding genes
  • #16,931of 20,598
    Most Researched11
  • #16,399of 17,882
    Most Constrained (LOEUF)1.76
Genes detectedTSPYL6
Sources retrieved5 papers
Response time—
📄 Sources
5
1
Association between single nucleotide polymorphisms in the TSPYL6 gene and breast cancer susceptibility in the Han Chinese population.
PMID: 27458158
Oncotarget · 2016
1.00
2
TSPYL Family Regulates CYP17A1 and CYP3A4 Expression: Potential Mechanism Contributing to Abiraterone Response in Metastatic Castration-Resistant Prostate Cancer.
PMID: 29027195
Clin Pharmacol Ther · 2018
0.80
3
Comprehensive analysis of the immunological landscape of pituitary adenomas: implications of immunotherapy for pituitary adenomas.
PMID: 33034841
J Neurooncol · 2020
0.60
4
Identification of a duplication within the GDF9 gene and novel candidate genes for primary ovarian insufficiency (POI) by a customized high-resolution array comparative genomic hybridization platform.
PMID: 24939957
Hum Reprod · 2014
0.40
5
Association of ACYP2 and TSPYL6 Genetic Polymorphisms with Risk of Ischemic Stroke in Han Chinese Population.
PMID: 27686078
Mol Neurobiol · 2017
0.20