ESPN (espin)

2018-11-01  

Identity

HGNC
LOCATION
1p36.31
LOCUSID
ALIAS
DFNB36,LP2654,USH1M
FUSION GENES

Other Information

Locus ID:

NCBI: 83715
MIM: 606351
HGNC: 13281
Ensembl: ENSG00000187017

Variants:

dbSNP: 83715
ClinVar: 83715
TCGA: ENSG00000187017
COSMIC: ESPN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000187017ENST00000416731A0A0A0MSQ4
ENSG00000187017ENST00000418286Q5JYL1
ENSG00000187017ENST00000434576H0Y7L4
ENSG00000187017ENST00000461727B1AK53
ENSG00000187017ENST00000475228A0A0J9YY76
ENSG00000187017ENST00000475479A0A2R8Y7L7
ENSG00000187017ENST00000477679A0A2R8YG57
ENSG00000187017ENST00000478323K7EMB7
ENSG00000187017ENST00000632593A0A2R8Y6D3
ENSG00000187017ENST00000632803A0A0J9YW00
ENSG00000187017ENST00000633239A0A0J9YWQ8
ENSG00000187017ENST00000636330A0A1B0GUN9
ENSG00000187017ENST00000636644A0A1B0GUS9
ENSG00000187017ENST00000645284B1AK53

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
152861532004Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.44
159300852006Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.32
159300852006Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.32
165696622006Targeted wild-type and jerker espins reveal a novel, WH2-domain-dependent way to make actin bundles in cells.20
244240262014Characterization and regulation of an additional actin-filament-binding site in large isoforms of the stereocilia actin-bundling protein espin.15
189732452008A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.7
293856712018Overexpression of microRNA-612 Restrains the Growth, Invasion, and Tumorigenesis of Melanoma Cells by Targeting Espin.7
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
268864632016Hair cell stereociliary bundle regeneration by espin gene transduction after aminoglycoside damage and hair cell induction by Notch inhibition.6
267851472016Myosin III-mediated cross-linking and stimulation of actin bundling activity of Espin.5

Citation

Dessen P

ESPN (espin)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57712/espn