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 e... See more...

Aliases for USH2A Gene

Aliases for USH2A Gene

  • Usherin 2 3 4 5
  • Usher Syndrome 2A (Autosomal Recessive, Mild) 2 3
  • Usher Syndrome Type IIa Protein 3 4
  • Usher Syndrome Type-2A Protein 3 4
  • DJ1111A8.1 3
  • RP39 3
  • USH2 3
  • US2 3

External Ids for USH2A Gene

Previous HGNC Symbols for USH2A Gene

  • USH2

Previous GeneCards Identifiers for USH2A Gene

  • GC01M215005
  • GC01M212197
  • GC01M9A0069
  • GC01M9A3403
  • GC01M9A2184
  • GC01M212184
  • GC01M213862
  • GC01M215796
  • GC01M186470

Summaries for USH2A Gene

Entrez Gene Summary for USH2A Gene

  • 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]

GeneCards Summary for USH2A Gene

USH2A (Usherin) is a Protein Coding gene. Diseases associated with USH2A include Usher Syndrome, Type Iia and Retinitis Pigmentosa 39. Gene Ontology (GO) annotations related to this gene include collagen binding and myosin binding. An important paralog of this gene is LAMA1.

UniProtKB/Swiss-Prot Summary for USH2A Gene

  • Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.

Gene Wiki entry for USH2A Gene

Additional gene information for USH2A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for USH2A Gene

Genomics for USH2A Gene

GeneHancer (GH) Regulatory Elements for USH2A Gene

Promoters and enhancers for USH2A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J216423 Promoter 0.6 EPDnew 500.7 0.0 -20 0.1 EP300 RFX1 BMI1 USH2A lnc-USH2A-3
GH01J216388 Enhancer 0.7 Ensembl ENCODE 11.1 +34.8 34847 1.2 HDAC2 NANOG SIN3A SMARCA4 CHD7 SP1 POLR2A USH2A piR-49713-003
GH01J216366 Enhancer 0.3 UCNEbase 10.5 +56.3 56321 0.5 USH2A piR-49713-003
GH01J216228 Enhancer 0.2 FANTOM5 6.6 +194.3 194345 0.4 MRPS18BP1 ENSG00000236292 USH2A LOC105372918 piR-49713-003
GH01J216456 Enhancer 0.7 Ensembl ENCODE 0.3 -33.7 -33653 1.4 JUND FOS GATA3 REST MAFK RCOR1 TRIM28 YY1 GATA2 NR3C1 USH2A lnc-USH2A-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around USH2A on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for USH2A

Genomic Locations for USH2A Gene

Genomic Locations for USH2A Gene
chr1:215,622,891-216,423,448
(GRCh38/hg38)
Size:
800,558 bases
Orientation:
Minus strand
chr1:215,796,236-216,596,738
(GRCh37/hg19)
Size:
800,503 bases
Orientation:
Minus strand

Genomic View for USH2A Gene

Genes around USH2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
USH2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for USH2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for USH2A Gene

Proteins for USH2A Gene

  • Protein details for USH2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75445-USH2A_HUMAN
    Recommended name:
    Usherin
    Protein Accession:
    O75445
    Secondary Accessions:
    • Q5VVM9
    • Q6S362
    • Q9NS27

    Protein attributes for USH2A Gene

    Size:
    5202 amino acids
    Molecular mass:
    575600 Da
    Quaternary structure:
    • Interacts with collagen IV and fibronectin via its laminin EGF-like domains. Interaction with collagen may be required for stable integration into the basement membrane (PubMed:14676276, PubMed:16114888). Interacts with NINL (PubMed:18826961). Interacts with USH1C (PubMed:16301216). Component of USH2 complex, composed of ADGRV1, PDZD7, USH2A and WHRN. Interacts with ADGRV1/MASS1 (via N-terminal PDZ domain). Interacts (via the cytoplasmic region) with WHRN (PubMed:16434480). Interacts (via the cytoplasmic region) with PDZD7 (PubMed:20440071). Interacts (via the cytoplasmic region) with VEZT and MYO7A (via MyTH4-FERM domains); the interaction associates VEZT with the USH2 complex at the stereocilia base (By similarity).

    Alternative splice isoforms for USH2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for USH2A Gene

Post-translational modifications for USH2A Gene

  • Glycosylation at Asn361, Asn451, Asn587, Asn611, Asn650, Asn697, Asn839, Asn856, Asn862, Asn888, Asn944, Asn1011, Asn1071, Asn1151, Asn1174, Asn1379, Asn1388, Asn1479, Asn1635, Asn1779, Asn1903, Asn2011, Asn2014, Asn2048, Asn2130, Asn2182, Asn2195, Asn2258, Asn2285, Asn2322, Asn2377, Asn2382, Asn2407, Asn2413, Asn2581, Asn2584, Asn2656, Asn2710, Asn2770, Asn2788, Asn2930, Asn2937, Asn2970, Asn3032, Asn3099, Asn3217, Asn3330, Asn3419, Asn3433, Asn3653, Asn3694, Asn3733, Asn3780, Asn3849, Asn3984, Asn4202, Asn4226, Asn4317, Asn4418, Asn4564, Asn4583, Asn4691, Asn4754, Asn4800, Asn4943, and Asn4950
  • Modification sites at PhosphoSitePlus

Other Protein References for USH2A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for USH2A Gene

Domains & Families for USH2A Gene

Gene Families for USH2A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for USH2A Gene

Blocks:
  • Laminin G
  • Laminin-type EGF-like domain
  • Fibronectin type III repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for USH2A Gene

GenScript: Design optimal peptide antigens:
  • Usher syndrome type-2A protein (USH2A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75445

UniProtKB/Swiss-Prot:

USH2A_HUMAN :
  • The PDZ-binding motif probably mediates the association with some of the PDZ domains of USH1C and WHRN.
Domain:
  • The PDZ-binding motif probably mediates the association with some of the PDZ domains of USH1C and WHRN.
genes like me logo Genes that share domains with USH2A: view

Function for USH2A Gene

Molecular function for USH2A Gene

UniProtKB/Swiss-Prot Function:
Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.
GENATLAS Biochemistry:
putative extracellular matrix protein expressed in fetal cochlea,eye,brain,kidney and in adult retina,with homology to laminin mutated in Usher,type IIA

Phenotypes From GWAS Catalog for USH2A Gene

Gene Ontology (GO) - Molecular Function for USH2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16301216
GO:0005518 collagen binding IDA 14676276
GO:0017022 myosin binding IEA,ISS --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with USH2A: view
genes like me logo Genes that share phenotypes with USH2A: view

Human Phenotype Ontology for USH2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for USH2A Gene

MGI Knock Outs for USH2A:

Animal Model Products

miRNA for USH2A Gene

miRTarBase miRNAs that target USH2A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for USH2A Gene

Localization for USH2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for USH2A Gene

Cell projection, stereocilium membrane; Single-pass type I membrane protein. Note=Component of the interstereocilia ankle links in the inner ear sensory cells. In photoreceptors, localizes at a plasma membrane microdomain in the apical inner segment taht surrounds the connecting cilia called periciliary membrane complex. {ECO:0000250 UniProtKB:Q2QI47}.
[Isoform 2]: Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for USH2A gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 3
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for USH2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 colocalizes_with photoreceptor inner segment ISS --
GO:0002141 stereocilia ankle link ISS,IEA --
GO:0002142 stereocilia ankle link complex ISS,IEA --
GO:0005576 extracellular region IEA --
GO:0005604 basement membrane IDA 12433396
genes like me logo Genes that share ontologies with USH2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for USH2A Gene

Pathways & Interactions for USH2A Gene

PathCards logo

SuperPathways for USH2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for USH2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0007605 sensory perception of sound IMP 10090909
GO:0009887 animal organ morphogenesis IBA 21873635
GO:0009888 tissue development IBA 21873635
GO:0035315 hair cell differentiation IEA,ISS --
genes like me logo Genes that share ontologies with USH2A: view

No data available for Pathways by source and SIGNOR curated interactions for USH2A Gene

Drugs & Compounds for USH2A Gene

No Compound Related Data Available

Transcripts for USH2A Gene

mRNA/cDNA for USH2A Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for USH2A Gene

No ASD Table

Relevant External Links for USH2A Gene

GeneLoc Exon Structure for
USH2A

Expression for USH2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for USH2A Gene

mRNA differential expression in normal tissues according to GTEx for USH2A Gene

This gene is overexpressed in Liver (x15.0) and Testis (x6.8).

Protein differential expression in normal tissues from HIPED for USH2A Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (63.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for USH2A Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for USH2A

SOURCE GeneReport for Unigene cluster for USH2A Gene:

Hs.655974

mRNA Expression by UniProt/SwissProt for USH2A Gene:

O75445-USH2A_HUMAN
Tissue specificity: Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea.

Evidence on tissue expression from TISSUES for USH2A Gene

  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for USH2A Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • middle ear
  • nose
  • outer ear
  • skull
Pelvis:
  • penis
  • testicle
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with USH2A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for USH2A Gene

Orthologs for USH2A Gene

This gene was present in the common ancestor of animals.

Orthologs for USH2A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia USH2A 31 30
  • 99.24 (n)
OneToOne
dog
(Canis familiaris)
Mammalia USH2A 31 30
  • 86.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia USH2A 31 30
  • 86.2 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ush2a 17 31 30
  • 77.92 (n)
rat
(Rattus norvegicus)
Mammalia Ush2a 30
  • 77.34 (n)
oppossum
(Monodelphis domestica)
Mammalia USH2A 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves USH2A 31 30
  • 70.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia USH2A 31
  • 59 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.18151 30
zebrafish
(Danio rerio)
Actinopterygii ush2a 31 30
  • 56.51 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta LanB1 31
  • 21 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lam-1 31
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToOne
Species where no ortholog for USH2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for USH2A Gene

ENSEMBL:
Gene Tree for USH2A (if available)
TreeFam:
Gene Tree for USH2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for USH2A: view image

Paralogs for USH2A Gene

(1) SIMAP similar genes for USH2A Gene using alignment to 1 proteins:

  • USH2A_HUMAN
genes like me logo Genes that share paralogs with USH2A: view

Variants for USH2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for USH2A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
438258 Likely Pathogenic: Usher syndrome 215,785,280(-) GGCCTTGAGTAGGATG SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
438259 Likely Pathogenic: Retinitis pigmentosa 215,836,340(-) CATTGTTCTATAAACA SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
635484 Likely Pathogenic: Retinitis pigmentosa 39 216,247,199(-) C/A MISSENSE_VARIANT
635525 Pathogenic: Usher syndrome, type 2A 215,759,716(-) GA/G FRAMESHIFT_VARIANT
636113 Uncertain Significance: Retinitis pigmentosa 215,728,382(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for USH2A Gene

Structural Variations from Database of Genomic Variants (DGV) for USH2A Gene

Variant ID Type Subtype PubMed ID
dgv261n106 CNV deletion 24896259
dgv279e59 CNV duplication 20981092
dgv816n54 CNV loss 21841781
dgv817n54 CNV loss 21841781
dgv818n54 CNV loss 21841781
dgv819n54 CNV loss 21841781
esv1292949 CNV deletion 17803354
esv1560943 CNV insertion 17803354
esv1749994 CNV deletion 17803354
esv23405 CNV loss 19812545
esv2496367 CNV deletion 19546169
esv2652396 CNV deletion 19546169
esv2669208 CNV deletion 23128226
esv2674039 CNV deletion 23128226
esv2674123 CNV deletion 23128226
esv2722739 CNV deletion 23290073
esv2722750 CNV deletion 23290073
esv2722761 CNV deletion 23290073
esv2722772 CNV deletion 23290073
esv2722783 CNV deletion 23290073
esv2722794 CNV deletion 23290073
esv2722807 CNV deletion 23290073
esv2762219 CNV loss 21179565
esv2763680 CNV loss 21179565
esv2764185 CNV loss 21179565
esv3302618 CNV tandem duplication 20981092
esv3309838 CNV mobile element insertion 20981092
esv3325216 CNV insertion 20981092
esv3329628 CNV insertion 20981092
esv3422062 CNV insertion 20981092
esv3546533 CNV deletion 23714750
esv3546567 CNV deletion 23714750
esv3546578 CNV deletion 23714750
esv3578428 CNV loss 25503493
esv3578429 CNV loss 25503493
esv3578430 CNV loss 25503493
esv3588816 CNV loss 21293372
esv3588817 CNV loss 21293372
esv3588818 CNV loss 21293372
esv3588819 CNV loss 21293372
esv3588821 CNV loss 21293372
esv3588822 CNV loss 21293372
esv3588823 CNV loss 21293372
esv3588824 CNV loss 21293372
esv6553 CNV gain 19470904
nsv1006028 CNV loss 25217958
nsv1007720 CNV loss 25217958
nsv1012279 CNV loss 25217958
nsv4554 CNV insertion 18451855
nsv468116 CNV loss 19166990
nsv468127 CNV loss 19166990
nsv473278 CNV novel sequence insertion 20440878
nsv474190 CNV novel sequence insertion 20440878
nsv476146 CNV novel sequence insertion 20440878
nsv520724 CNV loss 19592680
nsv523863 CNV loss 19592680
nsv527176 CNV loss 19592680
nsv527827 CNV loss 19592680
nsv549183 CNV loss 21841781
nsv549190 CNV loss 21841781
nsv549191 CNV loss 21841781
nsv549192 CNV loss 21841781
nsv549193 CNV loss 21841781
nsv549194 CNV loss 21841781
nsv549195 CNV loss 21841781
nsv549196 CNV loss 21841781
nsv549199 CNV gain 21841781
nsv832548 CNV gain 17160897
nsv954217 CNV deletion 24416366
nsv998835 CNV loss 25217958
nsv999211 CNV loss 25217958

Variation tolerance for USH2A Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 16.71; 97.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for USH2A Gene

Human Gene Mutation Database (HGMD)
USH2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
USH2A

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for USH2A Gene

Disorders for USH2A Gene

MalaCards: The human disease database

(56) MalaCards diseases for USH2A Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
usher syndrome, type iia
  • ush2a
retinitis pigmentosa 39
  • rp39
usher syndrome
  • retinitis pigmentosa-deafness syndrome
chronic pain
  • pain - chronic
dysautonomia
- elite association - COSMIC cancer census association via MalaCards
Search USH2A in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

USH2A_HUMAN
  • Usher syndrome 2A (USH2A) [MIM:276901]: USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. {ECO:0000269 PubMed:10729113, ECO:0000269 PubMed:10738000, ECO:0000269 PubMed:10909849, ECO:0000269 PubMed:11311042, ECO:0000269 PubMed:12112664, ECO:0000269 PubMed:12525556, ECO:0000269 PubMed:14970843, ECO:0000269 PubMed:15015129, ECO:0000269 PubMed:15025721, ECO:0000269 PubMed:15241801, ECO:0000269 PubMed:15325563, ECO:0000269 PubMed:17085681, ECO:0000269 PubMed:17405132, ECO:0000269 PubMed:18273898, ECO:0000269 PubMed:18452394, ECO:0000269 PubMed:19683999, ECO:0000269 PubMed:19737284, ECO:0000269 PubMed:20309401, ECO:0000269 PubMed:20440071, ECO:0000269 PubMed:20507924, ECO:0000269 PubMed:21593743, ECO:0000269 PubMed:21686329, ECO:0000269 PubMed:22004887, ECO:0000269 PubMed:23737954, ECO:0000269 PubMed:26377068, ECO:0000269 PubMed:9624053}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 39 (RP39) [MIM:613809]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:10775529, ECO:0000269 PubMed:12112664, ECO:0000269 PubMed:12427073, ECO:0000269 PubMed:15325563, ECO:0000269 PubMed:16098008, ECO:0000269 PubMed:17296898, ECO:0000269 PubMed:20507924, ECO:0000269 PubMed:21686329, ECO:0000269 PubMed:22334370, ECO:0000269 PubMed:24227914}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in USH2A has been found in a patient with a form of non-syndromic sensorineural hearing loss. {ECO:0000269 PubMed:25388789}.

Genatlas disease for USH2A Gene

Usher syndrome,type IIA,congenital,moderate to severe neurosensory deafness,normal vestibular function and retinitis pigmentosa,exhibiting phenotypic variation including atypical cases with vestibular dysfunction

Additional Disease Information for USH2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with USH2A: view

Publications for USH2A Gene

  1. Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. (PMID: 19683999) Jaijo T … Millán JM (Investigative ophthalmology & visual science 2010) 3 4 23 41 54
  2. Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. (PMID: 18452394) Auslender N … Ben-Yosef T (Genetic testing 2008) 3 4 23 41 54
  3. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. (PMID: 15325563) Seyedahmadi BJ … Dryja TP (Experimental eye research 2004) 3 4 23 41 54
  4. Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. (PMID: 14970843) Aller E … Beneyto M (European journal of human genetics : EJHG 2004) 3 4 23 41 54
  5. Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. (PMID: 10729113) Weston MD … Greenburg J (American journal of human genetics 2000) 2 3 4 23 54

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Sources for USH2A Gene