STPG4

Chr 2

sperm-tail PG-rich repeat containing 4

Also known as: C2orf61, GSE

NCBI Gene: 285051ENSG00000239605UniProt: Q8N801

Predicted to enable chromatin binding activity and histone binding activity. Predicted to be involved in epigenetic programing of male pronucleus. Predicted to act upstream of or within pyrimidine-containing compound catabolic process. Predicted to be located in cytoplasm and nucleus. Predicted to be active in female pronucleus; germinal vesicle; and male pronucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.14
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.000
Z-score 1.21
OE 0.63 (0.37–1.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.86Z-score
OE missense 1.21 (1.06–1.38)
162 obs / 134.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.63 (0.37–1.14)
0≤0.351.4
Missense OE?1.21 (1.06–1.38)
0≤0.61.4
Synonymous OE?1.25
0≤1.21.6
LoF obs/exp: 8 / 12.6Missense obs/exp: 162 / 134.0Syn Z: -1.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

STPG4 · 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