The protein binds chromatin and histones to regulate cell growth and DNA damage responses, particularly through modulation of the Akt signaling pathway and suppression of p53 protein levels. This highly constrained gene (pLI 0.85, LOEUF 0.45) has not yet been definitively associated with human disease, though its critical role in DNA damage response pathways suggests potential clinical relevance. Further research is needed to establish any disease associations and inheritance patterns.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.45
Clinical SummaryTSPYL5
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.85) — some intolerance to loss-of-function variants.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.45LOEUF
pLI 0.849
Z-score 2.73
OE 0.09 (0.030.45)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.22Z-score
OE missense 0.77 (0.690.88)
180 obs / 232.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.09 (0.030.45)
00.351.4
Missense OE0.77 (0.690.88)
00.61.4
Synonymous OE1.09
01.21.6
LoF obs/exp: 1 / 10.6Missense obs/exp: 180 / 232.5Syn Z: -0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TSPYL5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC