ESPN

GENE INFORMATION

? »

Gene name

ESPN (HGNC Symbol)

Synonyms

DFNB36

Description

Espin (HGNC Symbol)

Entrez gene summary

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]

Chromosome

1

Cytoband

p36.31

Chromosome location (bp)

6484848 - 6521430

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000187017 (version 75.37)

Entrez gene

83715

UniProt

B1AK53 (UniProt - Evidence at protein level)

neXtProt

NX_B1AK53

Antibodypedia

ESPN antibodies
 

PROTEIN VIEW

? »
 
 
 
ESPN-001
 
ESPN-002
 
ESPN-005
 
ESPN-007
 
ESPN-009
 
ESPN-201
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ESPN-001 ENSP00000367059
ENST00000377828
B1AK53
Show all »
Show » Show » 854 91.7 No 0
ESPN-002 ENSP00000401793
ENST00000418286
Q5JYL1
Show all »
Show » Show » 214 22.9 No 0
ESPN-005 ENSP00000466437
ENST00000478323
K7EMB7
Show all »
Show » 28 2.9 No 0
ESPN-007 ENSP00000413621
ENST00000434576
Show » 188 21.4 No 0
ESPN-009 ENSP00000465308
ENST00000461727
B1AK53
Show all »
Show » Show » 288 31.6 No 0
ESPN-201 ENSP00000399239
ENST00000416731
B1AK53
Show all »
Show » Show » 288 31.6 No 0