Identity
HGNC
LOCATION
1p36.31
LOCUSID
ALIAS
DFNB36,LP2654,USH1M
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 83715
MIM: 606351
HGNC: 13281
Ensembl: ENSG00000187017
Variants:
dbSNP: 83715
ClinVar: 83715
TCGA: ENSG00000187017
COSMIC: ESPN
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31638198 | 2019 | Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II. | 2 |
| 31638198 | 2019 | Identification of whirlin domains interacting with espin: A study of the mechanism of Usher syndrome type II. | 2 |
| 29385671 | 2018 | Overexpression of microRNA-612 Restrains the Growth, Invasion, and Tumorigenesis of Melanoma Cells by Targeting Espin. | 16 |
| 29572253 | 2018 | Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. | 8 |
| 29385671 | 2018 | Overexpression of microRNA-612 Restrains the Growth, Invasion, and Tumorigenesis of Melanoma Cells by Targeting Espin. | 16 |
| 29572253 | 2018 | Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment. | 8 |
| 26785147 | 2016 | Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin. | 15 |
| 26886463 | 2016 | Hair cell stereociliary bundle regeneration by espin gene transduction after aminoglycoside damage and hair cell induction by Notch inhibition. | 9 |
| 26785147 | 2016 | Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin. | 15 |
| 26886463 | 2016 | Hair cell stereociliary bundle regeneration by espin gene transduction after aminoglycoside damage and hair cell induction by Notch inhibition. | 9 |
| 24424026 | 2014 | Characterization and regulation of an additional actin-filament-binding site in large isoforms of the stereocilia actin-bundling protein espin. | 20 |
| 24424026 | 2014 | Characterization and regulation of an additional actin-filament-binding site in large isoforms of the stereocilia actin-bundling protein espin. | 20 |
| 19773279 | 2009 | Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. | 9 |
| 19773279 | 2009 | Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. | 9 |
| 18973245 | 2008 | A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family. | 8 |
Citation
Dessen P
ESPN (espin)
Atlas Genet Cytogenet Oncol Haematol. 2018-11-01
Online version: http://atlasgeneticsoncology.org/gene/57712/gene-explorer/new-content/
