Ush2a Gene Summary [Mouse]

Enables collagen binding activity; identical protein binding activity; and myosin binding activity. Involved in hair cell differentiation. Acts upstream of or within several processes, including establishment of protein localization; inner ear auditory receptor cell differentiation; and photoreceptor cell maintenance. Located in several cellular components, including periciliary membrane compartment; photoreceptor connecting cilium; and stereocilium membrane. Part of USH2 complex and stereocilia ankle link complex. Is expressed in sensory organ and testis. Used to study Usher syndrome type 2A. Human ortholog(s) of this gene implicated in Usher syndrome (multiple); nonsyndromic deafness; and retinitis pigmentosa (multiple). Orthologous to human USH2A (usherin). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Retained Intron
Official Symbol
Ush2a
Official Name
usherin [Source:MGI Symbol;Acc:MGI:1341292]
Ensembl ID
ENSMUSG00000026609
Bio databases IDs NCBI: 22283 Ensembl: ENSMUSG00000026609
Aliases usherin
Synonyms A930011D15Rik, A930037M10Rik, dJ1111A8.1, Gm676, Gm983, LOC102554234, Mush2a, RGD1560269, RP39, US2, USH2, USHER, USHERIN, Ushrn
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse 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.
regulates
  • WHRN
  • phosphatidylinositol 4,5-bisphosphate
regulated by
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
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 mouse 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.