ESPN - espin Gene

Also Known as USH1M; DFNB36; LP2654

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83715

About ESPN

Cytogenetic location: 1p36.31 Genomic coordinates (GRCh38): 1:6,424,776-6,461,370 (from NCBI)

This gene has 16 transcripts (splice variants), 199 orthologues, 1 paralogue and is associated with 5 phenotypes. Biased expression in testis (RPKM 9.0), skin (RPKM 5.5) and 8 other tissues.

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]

ESPN Products (3)

mRNA	Protein	Name
NM_001367473.1	NP_001354402.1	espin isoform 2
NM_001367474.1	NP_001354403.1	espin isoform 3
NM_031475.3	NP_113663.2	espin isoform 1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in microvillar actin bundle assembly	IMP IMP: Inferred from mutant phenotype	29572253	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in microvillus	IDA IDA: Inferred from direct assay	29572253	GOA
located in stereocilium	IDA IDA: Inferred from direct assay	29572253	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ESPN Protein Structure

Ank_2

Ank

Ank_2

WH2

0
200
400
600
800
854 a.a.

Protein Preferred Names	Protein Names
espin	autosomal recessive deafness type 36 protein

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Deafness, Autosomal Recessive 36 DFNB36 Deafness, Neurosensory, Without Vestibular Involvement, Autosomal Dominant Deafness, Autosomal Recessive 36, Without Vestibular Involvement Deafness, Autosomal Dominant, Without Vestibular Involvement DFNAWVI Deafness, Autosomal Recessive, 36, With Or Without Vestibular Involvement Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 36 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 36 Deafness, Without Vestibular Involvement, Autosomal Dominant Deafness, Autosomal Recessive, Type 36, With/Without Vestibular Involvement
Usher Syndrome, Type 1m	USH1M Usher Syndrome 1m
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Nonsyndromic Deafness 36	Autosomal Recessive Deafness 36 Dfnb36 Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement Deafness, Autosomal Recessive 36
Deafness, Autosomal Recessive
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Deafness, Autosomal Recessive 30	DFNB30 Autosomal Recessive Nonsyndromic Deafness 30 Autosomal Recessive Deafness 30 Deafness, Autosomal Recessive, 30 Deafness, Autosomal Recessive, Type 30
Early Congenital Syphilis
Deafness, Autosomal Recessive 27	DFNB27 Autosomal Recessive Nonsyndromic Deafness 27 Autosomal Recessive Deafness 27
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Autosomal Dominant Alport Syndrome	Alport Syndrome, Autosomal Dominant Alport Syndrome Dominant Type Renal Failure And Sensorineural Hearing Loss Alport Syndrome, Dominant Type
Galloway-Mowat Syndrome 1	Galloway Syndrome Nephrosis-Neuronal Dysmigration Syndrome Nephrosis-Microcephaly Syndrome Camos Scar5 GAMOS1 Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Microcephaly, Hiatal Hernia And Nephrotic Syndrome Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly Scar5, Formerly Spinocerebellar Ataxia Autosomal Recessive 5 Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities Camos Syndrome Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome Galloway-Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive, 5 Galloway Mowat Syndrome Spinocerebellar Ataxia, Autosomal Recessive 5
Cakut	Renal Or Urinary Tract Malformation Congenital Anomalies Of Kidney And Urinary Tract Congenital Anomaly Of Kidney And Urinary Tract Congenital Anomalies Of The Kidney And Urinary Tract Kidney And Urinary Tract, Anomalies, Congenital Renal Hypodysplasia, Nonsyndromic, 1
Night Blindness	Nyctalopia
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Renal Cell Carcinoma, Papillary, 1	Papillary Renal Cell Carcinoma Hereditary Papillary Renal Cell Carcinoma Papillary Renal Cell Carcinoma, Sporadic Papillary Renal Cell Adenocarcinoma RCCP RCCP1 Renal Cell Carcinoma, Papillary Renal Cell Carcinoma, Papillary, 1, Familial And Somatic Chromophil Carcinoma Of Kidney Papillary Kidney Carcinoma Sporadic Papillary Renal Cell Carcinoma Chromophil Renal Cell Carcinoma Papillary Renal Carcinoma, Malignant - Papillary Renal Cell Carcinoma, Bilateral - Papillary Renal Cell Carcinoma, Familial - Papillary Renal Cell Carcinoma, Multiple - Papillary Renal Cell Carcinoma, Sporadic - Renal Adenocarcinoma Chromophil Rcc Hprcc Renal Cell Carcinoma Papillary Chromophilic Renal Cell Carcinoma Prcc Carcinoma, Renal Cell, Papillary, Type 1 Type 1 Papillary Renal Cell Carcinoma Renal Cell Carcinoma Hereditary Papillary Renal Carcinoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04528	ESPN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ESPN	VGNC	VGNC:109394
Mus musculus	ESPN	MGD	MGI:1861630
Canis familiaris	ESPN	VGNC	VGNC:56010
Rattus norvegicus	ESPN	RGD	RGD:620652
Macaca mulatta	ESPN	VGNC	VGNC:99917
Felis catus	ESPN	VGNC	VGNC:80203
Others	ESPN	NCBI