SYNPO2

Chr 4

synaptopodin 2

NCBI Gene: 171024ENSG00000172403UniProt: Q9UMS6OMIM: 620941

Enables alpha-actinin binding activity and filamin binding activity. Involved in obsolete regulation of Rho-dependent protein serine/threonine kinase activity; positive regulation of actin filament bundle assembly; and positive regulation of cell migration. Located in Z disc; focal adhesion; and stress fiber. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.63
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.63LOEUF
pLI 0.000
Z-score 3.57
OE 0.43 (0.30–0.63)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.04Z-score
OE missense 1.00 (0.94–1.06)
688 obs / 690.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.30–0.63)
0≤0.351.4
Missense OE?1.00 (0.94–1.06)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 20 / 46.2Missense obs/exp: 688 / 690.9Syn Z: 0.31

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SYNPO2 · 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