USH2A - usherin Gene

Also Known as US2; RP39; USH2; dJ1111A8.1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7399

About USH2A

Cytogenetic location: 1q41 Genomic coordinates (GRCh38): 1:215,622,891-216,423,448 (from NCBI)

This gene has 5 transcripts (splice variants), 177 orthologues, 27 paralogues and is associated with 5 phenotypes. Biased expression in liver (RPKM 1.7), testis (RPKM 0.3) and 1 other tissue.

Summary

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

USH2A Products (2)

mRNA	Protein	Name
NM_007123.6	NP_009054.6	usherin isoform A precursor
NM_206933.4	NP_996816.3	usherin isoform B precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables collagen binding	IDA IDA: Inferred from direct assay	14676276	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16301216	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in maintenance of animal organ identity	IMP IMP: Inferred from mutant phenotype	15671307	GOA
involved in photoreceptor cell maintenance	IMP IMP: Inferred from mutant phenotype	10090909	GOA
involved in sensory perception of light stimulus	IMP IMP: Inferred from mutant phenotype	10090909	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	10090909	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in basement membrane	IDA IDA: Inferred from direct assay	12433396	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	16434480	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

USH2A Protein Structure

Laminin_G_3

Laminin_N

Laminin_EGF

fn3

Laminin_G_2

fn3

0
800
1600
2400
3200
4000
4800
5202 a.a.

Protein Preferred Names	Protein Names
usherin	Usher syndrome 2A (autosomal recessive, mild)

Related Diseases

Diseases	Alias
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Retinitis Pigmentosa 39	RP39 Retinitis Pigmentosa, Type 39
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
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
Chronic Pain
Dysautonomia
Retinal Degeneration	Degeneration Of Retina
Late-Onset Retinal Degeneration	LORD Retinal Degeneration, Late-Onset, Autosomal Dominant Autosomal Dominant Late-Onset Retinal Degeneration Pigmentary Retinopathy Retinal Degeneration, Late-Onset Retinitis Pigmentosa
Anxiety	Anxiety Disorder Anxiety Disorders Anxiety State Anxieties Anxiety Neurosis
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
Ear Malformation	Cup Ear
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Rare Genetic Deafness	Rare Genetic Hearing Loss
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
Retinitis
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
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
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Usher Syndrome, Type Iid	Usher Syndrome Type 2d USH2D Usher Syndrome, Type 2d Usher Syndrome Type Iid Usher Syndrome 2d Usher Syndrome, Type Ii
Retinitis Pigmentosa 38	RP38 Rod-Cone Dystrophy, Childhood-Onset Retinitis Pigmentosa, Type 38
Retinoschisis 1, X-Linked, Juvenile	Retinoschisis X-Linked Retinoschisis X-Linked Juvenile Retinoschisis RS1 XLRS1 X-Linked Juvenile Retinoschisis 1 Xlrs Retinoschisis, X-Linked Rs Congenital X-Linked Retinoschisis Degenerative Retinoschisis Juvenile Retinoschisis Xjr Retinoschisis Juvenile X-Linked 1 Retinoschisis, Juvenile, X-Linked Retinoschisis, Degenerative
Retinitis Pigmentosa 25	RP25 Retinitis Pigmentosa-25 Retinitis Pigmentosa, Type 25
Deafness, Autosomal Recessive 31	DFNB31 Whirler, Mouse, Homolog Of Autosomal Recessive Nonsyndromic Deafness 31 Autosomal Recessive Deafness 31 Deafness, Autosomal Recessive, 31 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 31 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 31 Deafness, Autosomal Recessive, Type 31
Deafness, Autosomal Dominant 56	DFNA56 Autosomal Dominant Nonsyndromic Deafness 56 Autosomal Dominant Deafness 56 Deafness, Autosomal Dominant, 56 Deafness, Autosomal Dominant, Type 56
Leber Congenital Amaurosis With Early-Onset Deafness	LCAEOD
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Choroid Disease	Choroid Diseases Abnormality Of The Choroid
Retinitis Pigmentosa 86	RP86 Retinitis Pigmentosa, Type 86
Eye Degenerative Disease
Retinitis Pigmentosa 77	RP77 Retinitis Pigmentosa, Type 77
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Macular Dystrophy, Dominant Cystoid	Cystoid Macular Edema DCMD Cystoid Macular Dystrophy Macular Edema, Cystoid Autosomal Dominant Cystoid Macular Edema Cymd Mddc Familial Macular Edema Macular Edema Macular Retinal Edema
Usher Syndrome, Type Iic	Usher Syndrome Type 2c USH2C Usher Syndrome, Type 2c Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic Usher Syndrome Type Iic Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic Usher Syndrome 2c Usher'S Syndrome Type 2c Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
Hereditary Retinal Dystrophy	Hereditary Retinal Dystrophies
Stargardt Disease	Stargardt Disease 1 Stargardt Macular Dystrophy Stargardt Disease-1 Juvenile Onset Macular Degeneration Stargardt Macular Degeneration Juvenile Macular Degeneration Macular Dystrophy With Flecks, Type 1 Stgd Fundus Flavimaculatus Stargardt 1 Stargardts Disease
Deafness, Autosomal Recessive 23	DFNB23 Autosomal Recessive Nonsyndromic Deafness 23 Autosomal Recessive Deafness 23 Deafness, Autosomal Recessive, 23 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 23 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 23 Deafness, Autosomal Recessive, Type 23
Choroidal Dystrophy, Central Areolar, 1	Choroidal Sclerosis Choroidal Dystrophy Choroidal Dystrophy, Central Areolar Cacd Central Areolar Choroidal Dystrophy CACD1 Choroidal Dystrophy, Central Areolar 1 Choroidal Dystrophy Central Areolar Central Areolar Choroidal Sclerosis Choroidal Degenerations Areolar Atrophy Of The Macula Partial Central Choroid Dystrophy Degenerative Choroidopathy Chorioretinal Degeneration Hereditary Chorioretinal Degeneration Hereditary Degeneration Of Choroid Hereditary Choroidal Dystrophies Generalised Choroidal Dystrophy Hereditary Choroidopathy
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Scotoma	Enlarged Blind Spot Scotoma Of Blind Spot Area Blind Spot Area Scotoma Enlarged Angioscotoma Enlarged Paracaecal Scotoma Generalized Visual Field Contraction Or Constriction Sector Or Arcuate Visual Field Defects
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Choroideremia	CHM Tcd Progressive Tapetochoroidal Dystrophy Choroidal Sclerosis Tapetochoroidal Dystrophy, Progressive Progressive Choroidal Atrophy Tapetochoroidal Dystrophy
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Usher Syndrome, Type Id	Usher Syndrome Type 1d USH1D Usher Syndrome, Type 1d Usher Syndrome Type Id Usher Syndrome, Type Id/F, Digenic Usher Syndrome, Type 1d/F Digenic Usher Syndrome 1d Usher'S Syndrome Type 1d Usher Syndrome 1d/F USH1DF Ush1d/F Usher'S Syndrome Type 1h Usher Syndrome 1h Usher Syndrome Type Ih Usher Syndrome, Type 1d/F
Vitelliform Macular Dystrophy	Best Disease Juvenile-Onset Vitelliform Macular Dystrophy Macular Dystrophy, Vitelliform Best Macular Dystrophy Vitelliform Dystrophy
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Bietti Crystalline Corneoretinal Dystrophy	BCD Bietti Crystalline Dystrophy Bietti Tapetoretinal Degeneration With Marginal Corneal Dystrophy Bietti Crystalline Retinopathy Bietti'S Crystalline Dystrophy Crystalline Retinopathy Dystrophy, Corneoretinal, Crystalline, Bietti
Macular Retinal Edema	Macular Edema Macular Oedema Macular Retinal Oedema Macular Edema, Cystoid
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Night Blindness	Nyctalopia
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Fundus Albipunctatus	Retinitis Punctata Albescens Pigmentary Retinal Dystrophy RPA Albipunctate Retinal Dystrophy Lauber'S Disease FALBI Fa
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Norrie Disease	Atrophia Bulborum Hereditaria Episkopi Blindness Pseudoglioma ND Norrie-Warburg Disease Anderson-Warburg Syndrome Fetal Iritis Syndrome Norrie Syndrome Norrie-Warburg Syndrome Ndp Congenital Progressive Oculo-Acoustico-Cerebral Degeneration Norrie'S Disease Oligophrenia Microphthalmus Pseudoglioma Congenita Whitnall-Norman Syndrome
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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 (6)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-147412	Ultevursen	Modulator	94.24%	Unkown
HY-147412D	FAM labled Ultevursen sodium		/	Unkown
HY-147412E	Cy3 labled Ultevursen sodium		/	Unkown
HY-RS15518	USH2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22899	Ush2a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29413	Ush2a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	USH2A	MGD	MGI:1341292
Bos taurus	USH2A	VGNC	VGNC:36706
Rattus norvegicus	USH2A	RGD	RGD:628777
Canis familiaris	USH2A	VGNC	VGNC:48174
Macaca mulatta	USH2A	VGNC	VGNC:100185