ESPNL
Chr 2espin like
Predicted to enable actin filament binding activity. Predicted to be involved in actin filament bundle assembly and sensory perception of sound. Predicted to be located in stereocilium tip. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.94LOEUF
pLI 0.000
Z-score 1.83
OE 0.65 (0.45–0.94)
Typical tolerance to LoF variation
Missense Constraint?
0.49Z-score
OE missense 0.95 (0.88–1.01)
614 obs / 649.5 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.65 (0.45–0.94)
0≤0.351.4
Missense OE?0.95 (0.88–1.01)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 20 / 31.0Missense obs/exp: 614 / 649.5Syn Z: 0.12
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ESPNL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools