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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ESPNL
espin like
Chromosome 2 Β· 2q37.3
NCBI Gene: 339768Ensembl: ENSG00000144488.16HGNC: HGNC:27937UniProt: B3KXY4
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingactin filament bindingsensory perception of soundactin filament bundle assemblyneurodegenerative diseaseAlzheimer diseasepsoriasisautosomal dominant nonsyndromic hearing loss
✦AI Summary

ESPNL (espin-like) is an actin-binding protein essential for inner ear hair cell development and auditory function. It binds to actin filaments without cross-linking them and is specifically required for the formation and maintenance of stereocilia, the mechanosensory organelles of hair cells 1. ESPNL serves as a marker gene for differentiating hair cells during inner ear development, with expression specifically detected in this cellular population during in vitro differentiation from stem and progenitor cells 1. The protein is critical for stereociliary staircase formation, a structural organization essential for normal hearing [UniProt annotation]. Beyond its primary role in auditory function, ESPNL has emerged as a potential disease susceptibility gene in epithelial ovarian cancer, with expression quantitative trait locus analysis identifying ESPNL as a putative candidate gene at chromosome 2.3 associated with high-grade serous ovarian cancer risk in East Asian women 2. Additionally, ESPNL was identified as one of eight tumor microenvironment-related prognostic genes in lung adenocarcinoma, where elevated expression correlated with worse overall survival outcomes 3. These findings suggest ESPNL's involvement extends beyond auditory development to potential cancer biology, though the mechanistic basis for these associations requires further investigation.

Sources cited
1
ESPNL is a marker gene specific for differentiating hair cells and is essential for stereocilia formation and maintenance
PMID: 25582750
2
ESPNL identified as putative candidate susceptibility gene for epithelial ovarian cancer risk at chromosome 2q37.3 in East Asian women
PMID: 30898391
3
ESPNL identified as one of eight tumor microenvironment-related prognostic genes in lung adenocarcinoma with worse overall survival in high expression group
PMID: 33188484
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.38Weak
Alzheimer diseaseOpen Targets
0.28Weak
psoriasisOpen Targets
0.21Weak
autosomal dominant nonsyndromic hearing lossOpen Targets
0.11Weak
hearing loss, autosomal recessiveOpen Targets
0.11Weak
deafnessOpen Targets
0.11Weak
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.09Suggestive
auditory neuropathy, autosomal dominant 3Open Targets
0.09Suggestive
autosomal recessive nonsyndromic hearing loss 1BOpen Targets
0.09Suggestive
autosomal recessive nonsyndromic hearing loss 86Open Targets
0.08Suggestive
hearing loss, autosomal dominant 88Open Targets
0.08Suggestive
hearing loss, autosomal dominant 89Open Targets
0.08Suggestive
autosomal dominant nonsyndromic hearing loss 65Open Targets
0.08Suggestive
Non-syndromic genetic deafnessOpen Targets
0.08Suggestive
autosomal dominant nonsyndromic hearing loss 17Open Targets
0.08Suggestive
autosomal dominant nonsyndromic hearing loss 7Open Targets
0.08Suggestive
autosomal recessive nonsyndromic hearing loss 102Open Targets
0.08Suggestive
deafness, aminoglycoside-inducedOpen Targets
0.08Suggestive
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposureOpen Targets
0.08Suggestive
autosomal recessive nonsyndromic hearing loss 30Open Targets
0.08Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
EPS8Protein interaction89%GSNProtein interaction89%MPP1Protein interaction89%CASKProtein interaction89%TWF2Protein interaction89%WHRNProtein interaction89%
Tissue Expression6 tissues
Brain
100%
Ovary
100%
Liver
61%
Heart
28%
Lung
11%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ESPNLEPS8GSNMPP1CASKTWF2WHRN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6ZVH7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.65LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.30 [1.02–1.65]
RankingsWhere ESPNL stands among ~20K protein-coding genes
  • #18,066of 20,598
    Most Researched6
  • #15,908of 17,882
    Most Constrained (LOEUF)1.65
Genes detectedESPNL
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Identification of immune-related gene signature predicting survival in the tumor microenvironment of lung adenocarcinoma.
PMID: 33188484
Immunogenetics Β· 2020
1.00
2
Genome-wide association studies identify susceptibility loci for epithelial ovarian cancer in east Asian women.
PMID: 30898391
Gynecol Oncol Β· 2019
0.67
3
Identification of stage-specific markers during differentiation of hair cells from mouse inner ear stem cells or progenitor cells in vitro.
PMID: 25582750
Int J Biochem Cell Biol Β· 2015
0.33