Close
Loading...
CONTACT US
:
:
:
Call us at:
:
:
:
Fax:
Email:

USH2A

Products

Loading...

All listed services and products are For Research Use Only. Do Not use in any diagnostic or therapeutic applications.

Background

Usherin, the protein product of USH2A gene, is an exceptionally large single-pass transmembrane protein containing 5,202 amino acids in humans. This remarkable protein normally localizes to the periciliary membrane complex (PMC) of photoreceptor inner segments and the ankle link region of cochlear hair cell stereocilia wherein it functions as a critical structural scaffolding component within the Usher interactome. It spends 97% of the protein sequence on its usherin ectodomain and has an extraordinarily high modularity in its extracellular domains, which include one laminin globular-like (LGL) domain, one laminin N-terminal (LN) domain, ten laminin epidermal growth factor-like (LE) repeats, two laminin globular (LG) domains and a whopping 32 fibronectin type III (FN3) domains. These repetitive structural motifs allow usherin to bind multiple times, thereby increasing its potency in binding extracellular matrix competitors (eg, fibronectin and collagen) and transmembrane adhesion receptors. It contains a class I PDZ-binding motif (Asp-Thr-His-Leu) in the intracellular C-terminal tail that directly associates with scaffold proteins whirlin (WHRN) and PDZD7, thus anchoring usherin within the larger USH2 quaternary protein complex that also includes ADGRV1 (GPR98/VLGR1). This functional architecture is required to preserve the mechanical stability of photoreceptor connecting cilia and hair cell mechanosensory bundles. An additional 24 amino acid cochlea-specific splice variant adds to this tissue-specific functional diversification of usherin between exon 70 and 71.

Fig.1 Schematics of USH2A domains. (OA Literature)Fig.1 Schematics of usherin domains in the naturally occurring usherin isoforms compared to patient variants and USH2A 13KO.1

USH2A Protein Function: A Hub of Sensory Cell Maintenance

For USH2A, the functional repertoire is multi-dimensional across various aspects of sensory neurobiology with a principal homeostasis function in structural maintenance of both photoreceptor and hair cells:

  • Photoreceptor Ciliary Integrity and Outer Segment Organization: At the periciliary membrane complex usherin, in association with harmonin (USH1C), SANS (USH1G), whirlin and ADGRV1, stabilizes the connecting cilium—the narrow bridge that all outer segment components need to transit. Disruption of this complex results in vesicle accumulation surrounding the periciliary region, progressive shortening of outer segments and ultimately photoreceptor cell death.
  • Hair Bundle Development and Mechanotransduction: During development, the USH2 protein complex localizes to an integration site at the ankle link where it helps organize stereocilia into coherent mechanosensory arrays. Mouse models with genetic ablation of usherin display disorganization of hair bundles, attenuated mechanotransduction responses, and moderate non-progressive sensorineural hearing loss primarily at higher frequencies—the auditory deficits closely modeling those observed in human USH2A patients.
  • Novel Role in Mechanosensation: Exciting new findings recently have reported expression of usherin in Meissner corpuscles—highly specialized mechanoreceptive nerve endings within fingertip skin—and thus USH2A possibly participates in the sense of touch. This finding highlights potential novel roles of usherin in sensory physiology, as mice lacking functional USH2A displayed impaired low-frequency vibration sensing but preserved temperature and pain sensation.

USH2A Membrane Protein Product

We provide a range of USH2A/usherin protein products and custom constructs designed to support structural and functional research on this challenging target. Due to the large size of full-length usherin and the associated challenges in expression and purification, our portfolio focuses on domain, fragment, and engineered construct formats selected according to research needs and technical feasibility. Available designs may include selected extracellular domains, intracellular regions, and other sequence-defined constructs relevant to USH2A biology. Our recombinant protein platform supports customized construct development and preparation strategies based on individual project requirements. Full-length USH2A, specific expression systems, tags, preparation formats, and functional characterization are confirmed only when supported by project feasibility and corresponding product or validation data.

USH2A Protein Product

Not finding the membrane protein product you need? Contact us to start your one-stop custom service!

USH2A Stable Cell Line Product

Establishing cellular models that enable routine and reproducible studies of USH2A variants is challenging, in part because of the large protein size and the requirement for a physiologically relevant expression context. We develop custom-engineered USH2A stable cell models for selected constructs and variants based on project requirements and technical feasibility. These cell lines can support drug screening, protein-protein interaction studies, and functional assays, including applications in high-throughput screening campaigns. Different mammalian host systems and inducible or constitutive expression strategies can be evaluated according to the specific research objective. Cell models carrying selected disease-associated or intronic variants can also be considered on a project-specific basis. Stably transfected cell lines can be characterized using appropriate methods, such as flow cytometry, Western blotting, immunofluorescence localization assays, or functional readouts, with the specific variant, host system, and characterization strategy confirmed for each project.

USH2A Stable Cell Line Product

Not finding the stable cell line product you need? Contact us to start your one-stop custom service!

USH2A Recombinant Antibody Product

We provide custom recombinant antibody development for USH2A/usherin to support a range of research applications. Antibody candidates can be developed against selected epitopes or regions of this large protein based on project requirements and antigen accessibility. Target regions, antibody formats, and screening strategies are determined according to the specific research objective and technical feasibility. Developed antibodies may be evaluated for applications such as Western blotting, immunohistochemistry (IHC), immunofluorescence (IF), flow cytometry, or ELISA, depending on the characteristics and performance of individual antibody candidates. Appropriate antibody formats and labeling or conjugation options can also be considered on a project-specific basis to support different experimental workflows.

USH2A Recombinant Antibody Product

Not finding the recombinant antibody product you need? Contact us to start your one-stop custom service!

Product Features

  • High Purity & Activity: High purity and verified integrity for dependable downstream work.
  • Diverse Expression Systems: Choice of expression formats to match routine or specialized projects.
  • Species Reactivity: Products available for human, mouse, pig, and other species.
  • Validated Applications: Application-tested to deliver consistent signals across common lab workflows.
  • Exceptional Lot-to-Lot Consistency: Tight lot-to-lot control for reproducible performance.
  • Customization Options: Flexible customization of tags, labels, or packaging upon request.

Custom USH2A Membrane Protein and Antibody Discovery Services

In addition to our catalog offerings, we provide unique custom services in membrane protein and antibody discovery & development. Using our extensive expertise and high-end platforms, we can help with:

  • Custom USH2A Production: Tailored expression, purification, and characterization of challenging multi-domain receptor constructs.
  • Custom Antibody Development: From antigen design to antibody engineering (monoclonal, polyclonal, recombinant) for specific research applications.
  • Stable Cell Line Development: Generation of bespoke stable cell lines expressing your target of interest.
  • Functional Assay Development: Designing and executing assays to assess receptor activation and ligand.

Frequently Asked Questions (FAQ)

  1. Are your USH2A reagents cleared for clinical diagnostic testing of Usher syndrome type II, retinitis pigmentosa genotyping or patient visual prognostication?

    No, all reagents and services provided are designated solely for research purposes and cannot be used for diagnostic testing or therapeutic purposes.

  2. Do you offer USH2A variants with engineered deletions of specific blocks of laminin EGF-like repeats for dissecting the roles of individual domains in extracellular matrix tethering and protein–protein interaction?

    Yes. We provide recombinant protein fragments and stable cell lines expressing serial deletion constructs with specified repeat regions. The scaffold of these materials allow mapping the minimal regions required for binding to VLGR1, association with collagen IV, and retention in periciliary membranes.

  3. Are these USH2A variants known to be pathogenic—those that result in premature truncation before the transmembrane domain or missense substitutions within laminin EGF-like repeats—in a vector suitable for ciliary trafficking, protein stability and partner interaction studies?

    Yes, these include recombinant protein fragments and stable cell lines expressing known pathogenic truncations and point mutations linked to moderate to sever Usher syndrome type II phenotypes.

  4. Do you have stable cell lines available for inducing truncated USH2A constructs that contain the periciliary targeting motif to study photoreceptor ciliary membrane localization dynamics and mechanosensitive calcium signaling?

    Yes we have developed tetracycline-inducible stable lines to express USH2A fragments containing the transmembrane domain and cytoplasmic C-terminal type I PDZ-binding motif. Such configurations allow for both controlled titration of ciliary membrane occupancy, as well as monitoring of whirlin and harmonin recruitment, periciliary membrane extension, and modulation of the phototransduction cascade with temporal precision—avoiding the variability associated with the transient overexpression paradigms used in studying primary cilium biology.

Reference
  1. Valenzano, Rossella, et al. "Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells." International Journal of Molecular Sciences 27.4 (2026): 1636. Under Open Access license CC BY 4.0, without modification. https://doi.org/10.3390/ijms27041636
Our customer service representatives are available 24 hours a day, 7 days a week. Contact Us
© 2026 Creative Biolabs. | Contact Us
;