ESPN - espin Gene

Homo sapiens

Also known as USH1M; DFNB36; LP2654

Gene ID: 83715 | Gene type: protein coding

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

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

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