1. Gene
  2. USH2A - usherin Gene

USH2A - usherin Gene

Homo sapiens

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

Gene ID: 7399 | Gene type: protein coding

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 Reference 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 Reference 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 Reference 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_G_3: Concanavalin A-like lectin/glucanases superfamily (136 - 285)

Laminin_N

Laminin_N: Laminin N-terminal (Domain VI) (338 - 516)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (518 - 560)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (575 - 627)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (641 - 691)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (694 - 744)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (747 - 790)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (795 - 841)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (847 - 897)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (900 - 948)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (951 - 997)

Laminin_EGF

Laminin_EGF: Laminin EGF domain (1002 - 1042)

fn3

fn3: Fibronectin type III domain (1157 - 1228)

fn3

fn3: Fibronectin type III domain (1249 - 1346)

fn3

fn3: Fibronectin type III domain (1372 - 1451)

Laminin_G_2

Laminin_G_2: Laminin G domain (1548 - 1678)

Laminin_G_2

Laminin_G_2: Laminin G domain (1744 - 1869)

fn3

fn3: Fibronectin type III domain (1957 - 2041)

fn3

fn3: Fibronectin type III domain (2441 - 2519)

fn3

fn3: Fibronectin type III domain (2542 - 2609)

fn3

fn3: Fibronectin type III domain (2634 - 2703)

fn3

fn3: Fibronectin type III domain (2728 - 2799)

fn3

fn3: Fibronectin type III domain (2824 - 2911)

fn3

fn3: Fibronectin type III domain (2930 - 3003)

fn3

fn3: Fibronectin type III domain (3596 - 3665)

fn3

fn3: Fibronectin type III domain (3781 - 3856)

fn3

fn3: Fibronectin type III domain (3974 - 4050)

fn3

fn3: Fibronectin type III domain (4161 - 4247)

fn3

fn3: Fibronectin type III domain (4273 - 4343)

fn3

fn3: Fibronectin type III domain (4359 - 4428)

fn3

fn3: Fibronectin type III domain (4452 - 4516)

fn3

fn3: Fibronectin type III domain (4538 - 4616)

fn3

fn3: Fibronectin type III domain (4652 - 4724)

fn3

fn3: Fibronectin type III domain (4835 - 4916)

  • 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

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