Protein Summary
Involved in hearing and vision as member of the USH2 complex. Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear. Involved in the maintenance of the hair bundle ankle region, which connects stereocilia in cochlear hair cells of the inner ear. In retina photoreceptors, required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
- ENST00000265134
- ENSP00000265134
- ENSG00000095397
- ENST00000362057
- ENSP00000354623
- ENST00000374057
- ENSP00000363170
- ENST00000374059
- ENSP00000363172
- DFNB31
- KIAA1526
- WI
- CIP98
- USH2D
- DFNB31
- PDZD7B
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
biological process | 0 | ||
biological term | 0 | ||
cell line | 0 | ||
cell type or tissue | 0 | ||
cellular component | 0 | ||
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: 55.61 (req: < 5)
Gene RIFs: 13 (req: <= 3)
Antibodies: 144 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 55.61 (req: >= 5)
Gene RIFs: 13 (req: > 3)
Antibodies: 144 (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 (79)
Nearest Tclin Targets
Pathways (1)
WikiPathways (1)
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
WikiPathways | Ciliary landscape | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Ciliary landscape | ||||
Viral Interactions (0)
Gene Ontology Terms (25)
Functions (2)
Components (13)
Processes (10)
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Electronic Annotation (IEA) | Ensembl | |||
Inferred from Electronic Annotation (IEA) | Ensembl | |||
Disease Associations (null)
GWAS Traits (61)
Items per page:
1 – 5 of 61
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
serum alanine aminotransferase measurement | 5 | 4 | 4 | 23.7 | 98.5 | ||||
aspartate aminotransferase measurement | 4 | 3 | 3 | 15.1 | 95.9 | ||||
sex hormone-binding globulin measurement | 4 | 1 | 4 | 78.6 | |||||
testosterone measurement | 5 | 3 | 6 | 76.1 | |||||
apolipoprotein A 1 measurement | 2 | 2 | 2 | 75 | |||||
Items per page:
1 – 5 of 61
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
serum alanine aminotransferase measurement | 4 | 23.7 | 98.5 | ||||
aspartate aminotransferase measurement | 3 | 15.1 | 95.9 | ||||
sex hormone-binding globulin measurement | 4 | 78.6 | |||||
testosterone measurement | 6 | 76.1 | |||||
apolipoprotein A 1 measurement | 2 | 75 | |||||
Find similar targets by:
IDG Resources
Orthologs (9)
1 – 5 of 9
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Macaque | whirlin | 708051 | ||||||
Mouse | MGI:2682003 | 73750 | ||||||
Rat | RGD:631330 | 313255 | ||||||
Dog | whirlin | VGNC:48408 | 612588 | |||||
Horse | whirlin | VGNC:25032 | 100051206 | |||||
Publication Statistics
PubMed Score 55.61
PubMed score by year
PubTator Score 27.16
PubTator score by year
Related Publications
Text Mined References (27)
GeneRif Annotations (13)
Items per page:
0 of 0
PMID | Year | Title |
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