SYNPO2L

Chr 10

synaptopodin 2 like

Also known as: CHAP

NCBI Gene: 79933ENSG00000166317UniProt: Q9H987OMIM: 621429

Predicted to enable actin binding activity. Predicted to be involved in several processes, including positive regulation of Rho protein signal transduction; positive regulation of stress fiber assembly; and sarcomere organization. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be active in Z disc; actin cytoskeleton; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.000
Z-score 1.85
OE 0.64 (0.45–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.32Z-score
OE missense 0.84 (0.78–0.91)
474 obs / 562.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.45–0.93)
0≤0.351.4
Missense OE?0.84 (0.78–0.91)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 20 / 31.2Missense obs/exp: 474 / 562.1Syn Z: -0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SYNPO2L · 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