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Tbio
USH2A
Usherin

Protein Summary
Description
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. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000307340
  • ENSP00000305941
  • ENSG00000042781
  • ENST00000366942
  • ENSP00000355909

Symbol
  • US2
  • RP39
  • USH2
  • dJ1111A8.1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
trait
1
protein domain
0.97
tissue
0.73
cellular component
0.72
disease
0.69


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 475.21   (req: < 5)
Gene RIFs: 76   (req: <= 3)
Antibodies: 42   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 475.21   (req: >= 5)
Gene RIFs: 76   (req: > 3)
Antibodies: 42   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 12
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
smoking status measurement
1
1
1
51.4
cognitive function measurement
1
1
1
6.5
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
smoking status measurement
1
51.4
cognitive function measurement
1
6.5
Orthologs (8)
1 – 5 of 8
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
usherin
VGNC:10514
457736
Mouse
MGI:1341292
22283
Dog
usherin
VGNC:48174
488593
Horse
usherin
VGNC:24827
100050607
Cow
usherin
VGNC:36706
100296635
Species
Name
OMA
EggNOG
Inparanoid
Chimp
usherin
Mouse
Dog
usherin
Horse
usherin
Cow
usherin
Gene Ontology Terms (25)
Items per page:
10
1 – 3 of 3
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
HGNC
Inferred from Sequence or structural Similarity (ISS)
BHF-UCL
Inferred from Electronic Annotation (IEA)
Ensembl
Protein-Protein Interactions (147)
1 – 10 of 147
USH1C
Tbio
Novelty: 0.01066917
Score: 0.948
Data Source: STRINGDB
PDZD7
Tbio
Novelty: 0.09467006
Score: 0.925
Data Source: STRINGDB
WHRN
Tbio
Novelty: 0.01886351
Score: 0.921
Data Source: STRINGDB
MYO7A
Tbio
Novelty: 0.00314435
Score: 0.855
Data Source: STRINGDB
USH1G
Tbio
Novelty: 0.02912203
Score: 0.853
Data Source: STRINGDB
CLRN1
Tbio
Novelty: 0.03334995
Score: 0.842
Data Source: STRINGDB
CIB2
Tbio
Novelty: 0.03578691
Score: 0.839
Data Source: STRINGDB
PCDH15
Tbio
Novelty: 0.0097699
Score: 0.838
Data Source: STRINGDB
LAMA5
Tbio
Novelty: 0.02247145
Score: 0.831
Data Source: STRINGDB
LAMA3
Tbio
Novelty: 0.00733792
Score: 0.831
Data Source: STRINGDB
Publication Statistics
PubMed Score  475.21

PubMed score by year
PubTator Score  371.83

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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