STPG2

Chr 4

sperm tail PG-rich repeat containing 2

Also known as: C4orf37

NCBI Gene: 285555ENSG00000163116UniProt: Q8N412

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.47
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.47LOEUF
pLI 0.000
Z-score -0.20
OE 1.05 (0.76–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.50Z-score
OE missense 1.09 (0.98–1.21)
254 obs / 232.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.05 (0.76–1.47)
0≤0.351.4
Missense OE?1.09 (0.98–1.21)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 24 / 23.0Missense obs/exp: 254 / 232.7Syn Z: -0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

STPG2 · 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