Protein Summary
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]
- ENST00000307340
- ENSP00000305941
- ENSG00000042781
- ENST00000366942
- ENSP00000355909
- US2
- RP39
- USH2
- dJ1111A8.1
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 | ||
Protein Classes
IDG Development Level Summary
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: 493.62 (req: < 5)
Gene RIFs: 76 (req: <= 3)
Antibodies: 42 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 493.62 (req: >= 5)
Gene RIFs: 76 (req: > 3)
Antibodies: 42 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 12
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
Expression Data (0 Tissues)
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
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 is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
Active Ligands (0)
Protein-Protein Interactions (147)
Nearest Tclin Targets
Pathways (0)
Viral Interactions (0)
Gene Ontology Terms (25)
Functions (3)
Components (13)
Processes (9)
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 | |||
Disease Associations (null)
GWAS Traits (7)
Items per page:
1 – 5 of 7
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
mathematical ability | 2 | 2 | 2 | 67.5 | |||||
self reported educational attainment | 1 | 1 | 1 | 56.6 | |||||
age at onset | 1 | 1 | 1 | 31.4 | |||||
1 | 1 | 1 | 31.4 | ||||||
smoking initiation | 1 | 1 | 1 | 29 | |||||
Items per page:
1 – 5 of 7
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
mathematical ability | 2 | 67.5 | |||||
self reported educational attainment | 1 | 56.6 | |||||
age at onset | 1 | 31.4 | |||||
1 | 31.4 | ||||||
smoking initiation | 1 | 29 | |||||
Find similar targets by:
IDG Resources
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 | |||||
Publication Statistics
PubMed Score 493.62
PubMed score by year
PubTator Score 371.83
PubTator score by year
Related Publications
Text Mined References (105)
GeneRif Annotations (76)
Items per page:
0 of 0
PMID | Year | Title |
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