USH2A Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | USH2A |
| Official Name | usherin [Source:HGNC Symbol;Acc:HGNC:12601] |
| Ensembl ID | ENSG00000042781 |
| Bio databases IDs | |
| Aliases | usherin |
| Synonyms | A930011D15Rik, A930037M10Rik, dJ1111A8.1, Gm676, Gm983, LOC102554234, Mush2a, RGD1560269, RP39, US2, USH2, USHER, USHERIN, Ushrn |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human USH2A often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Laminin N-terminal (Domain VI)
- Giardia variant-specific surface protein
- LamG
- Purple acid Phosphatase, N-terminal domain
- protein binding
- Fibronectin type 3 domain
- identical protein binding
- EGF_CA
- myosin binding
- Laminin-type epidermal growth factor-like domai
- Concanavalin A-like lectin/glucanases superfamily
- cytoplasmic domain
- FN3
- collagen binding
- cytosolic tail domain
- PDZ binding motif
- laminin G domain
- Laminin EGF domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hearing loss
- Alzheimer disease
- epithelial neoplasia
- retinitis pigmentosa type 39
- retinal dystrophy
- USH2A-related disorder
- Usher syndrome
- Usher syndrome type 2A
- Usher syndrome type 2
- retinitis pigmentosa
regulates
- WHRN
- phosphatidylinositol 4,5-bisphosphate
role in cell
- differentiation
- number
- abnormal morphology
- maintenance
- degeneration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Cytoplasm
- cellular membrane
- basal bodies
- connecting cilia
- stereocilia
- apical membrane
- neurites
- nerve ending
- photoreceptor inner segments
- perikaryon
- axon terminals
- basement membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human USH2A gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- maintenance of organ identity
- sensory perception of sound
- establishment of protein localization
- inner ear receptor cell differentiation
- auditory receptor cell differentiation
- photoreceptor cell maintenance
- establishment of localization in cell
- visual perception
- sensory perception of light stimulus
- hair cell differentiation
Cellular Component
Where in the cell the gene product is active
- photoreceptor connecting cilium
- cilium basal body
- stereocilia ankle link
- stereocilia ankle link complex
- neuronal cell body
- extracellular region
- basement membrane
- terminal button
- cytoplasm
- stereocilium bundle
- stereocilium membrane
- photoreceptor inner segment
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- collagen binding
- myosin binding