SPATA22

Chr 17

spermatogenesis associated 22

Also known as: NYD-SP20, NYDSP20, POF25, SPGF96

NCBI Gene: 84690ENSG00000141255UniProt: Q8NHS9

Predicted to be involved in regulation of meiotic cell cycle. Predicted to act upstream of or within several processes, including fertilization; gamete generation; and meiosis I cell cycle process. Predicted to be located in chromosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpermatogenic failure 96
UniProtPremature ovarian failure 25
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.77
LOEUF
DN
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?
0.77LOEUF
pLI 0.000
Z-score 2.35
OE 0.44 (0.26–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.29Z-score
OE missense 0.94 (0.83–1.07)
171 obs / 182.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.26–0.77)
0≤0.351.4
Missense OE?0.94 (0.83–1.07)
0≤0.61.4
Synonymous OE?1.05
0≤1.21.6
LoF obs/exp: 9 / 20.5Missense obs/exp: 171 / 182.1Syn Z: -0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPATA22 · 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