USH2A
Usherin, a key protein in hearing and vision
Gene Information Card
| Symbol | USH2A |
|---|---|
| Full Name | Usherin |
| Gene Type | Protein coding |
| Chromosomal Location | 1q41 |
| NCBI Gene ID | 7399 ncbi.nlm.nih.gov/gene/7399 |
| Ensembl ID | ENSG00000042781 |
| UniProt ID | Q75445 |
| OMIM ID | 276901 |
| HGNC ID | 12601 |
| Aliases | USH2, RP39, dJ1111A8.1 |
Description
The USH2A gene encodes usherin, a transmembrane protein essential for the development and maintenance of sensory cells in the inner ear and retina. Mutations in USH2A are a major cause of Usher syndrome type 2A, characterized by congenital moderate-to-severe hearing loss and progressive retinitis pigmentosa, as well as nonsyndromic retinitis pigmentosa. The protein is involved in cell adhesion and the formation of the ankle-link complex in hair cell stereocilia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Usher syndrome type 2A | Loss of usherin disrupts hair cell stereocilia ankle links, leading to hearing loss; retinal degeneration due to impaired photoreceptor cell adhesion | ClinVar, OMIM |
| Retinitis pigmentosa 39 (nonsyndromic) | Biallelic USH2A mutations cause progressive photoreceptor degeneration without hearing impairment | ClinVar, OMIM |
| Cone-rod dystrophy (rare) | Some USH2A variants associated with cone-rod dystrophy phenotype | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Cochlea | 8.3 | Low |
| Testis | 6.1 | Low |
| Brain | 2.4 | Not detected |
| Liver | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 15.2 | Moderate expression |
| HEK293 | 3.1 | Low expression |
| HeLa | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2299delG (p.Glu767Serfs*21) | Frameshift deletion | Common in European populations | Loss of function |
| c.2276G>T (p.Cys759Phe) | Missense | Recurrent in Usher syndrome | Loss of function |
| c.8559-2A>G | Splice site | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most USH2A mutations are loss-of-function (nonsense, frameshift, splice site) leading to truncated or absent usherin protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations in USH2A.
Dominant Negative (DN)
Not reported; USH2A-associated diseases are autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion | • sensory perception of sound |
| • photoreceptor cell maintenance | • ankle link complex |
| • extracellular matrix |
Pathways
• Usher syndrome pathway
• Photoreceptor cell maintenance
• Stereocilia ankle link complex
Protein Summary
Usherin is a large transmembrane protein (approximately 5202 amino acids) with multiple fibronectin type III and laminin G-like domains, localized to the ankle-link region of hair cell stereocilia and the periciliary membrane of photoreceptors. It mediates cell-matrix adhesion and is critical for the structural integrity of sensory cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USH2A Knockout HEK293 Cell Line | EDJ-KQ2141 | Human | 7399 | Details Get a Quote |
| USH2A Knockout HeLa Cell Line | EDJ-KQ54733 | Human | 7399 | Details Get a Quote |
| USH2A Knockout A-549 Cell Line | EDJ-KQ63226 | Human | 7399 | Details Get a Quote |
| USH2A Knockout HCT 116 Cell Line | EDJ-KQ71691 | Human | 7399 | Details Get a Quote |
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