ESPN

Chr 1

espin

Also known as: DFNA91, DFNB36, LP2654, USH1M

NCBI Gene: 83715ENSG00000187017UniProt: B1AK53

This gene encodes a multifunctional actin-bundling protein. It plays a major role in regulating the organization, dimensions, dynamics, and signaling capacities of the actin filament-rich, microvillus-type specializations that mediate sensory transduction in various mechanosensory and chemosensory cells. Mutations in this gene are associated with autosomal recessive neurosensory deafness, and autosomal dominant sensorineural deafness without vestibular involvement. [provided by RefSeq, Nov 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtDeafness, autosomal recessive, 36, with or without vestibular involvement
UniProtDeafness, autosomal dominant, 91
UniProtUsher syndrome 1M

Clinical highlights

Gene-disease validity (ClinGen)
nonsyndromic genetic hearing loss · ARDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
32
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
LOF
Mechanism· G2P
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GeneReview available — ESPN
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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 1.83
OE 0.63 (0.43–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.08Z-score
OE missense 1.01 (0.93–1.09)
440 obs / 435.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.63 (0.43–0.93)
0≤0.351.4
Missense OE?1.01 (0.93–1.09)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 18 / 28.6Missense obs/exp: 440 / 435.4Syn Z: 0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ESPN · 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