TSPY2

Chr Y

testis specific protein Y-linked 2

Also known as: TSPYQ1

NCBI Gene: 64591ENSG00000168757UniProt: A6NKD2

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in several processes, including gonadal mesoderm development; nucleosome assembly; and spermatogenesis. Predicted to be located in cytoplasm. Predicted to be active in chromatin and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.095
Z-score 0.07
OE 0.93 (0.26–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.59Z-score
OE missense 1.39 (1.01–1.85)
25 obs / 18.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.93 (0.26–1.89)
0≤0.351.4
Missense OE?1.39 (1.01–1.85)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 1 / 1.1Missense obs/exp: 25 / 18.0Syn Z: 0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TSPY2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients