Gene Symbol: Ush2a
Description: usherin
Alias: A930011D15Rik, A930037M10Rik, Gm676, Gm983, Mush2a, Ushrn, usherin, Usher syndrome 2A (autosomal recessive, mild) homolog, usher syndrome type IIa protein homolog, usher syndrome type-2A protein homolog
Species: mouse
Products:     Ush2a

Top Publications

  1. Danciger J, Danciger M, Nusinowitz S, Rickabaugh T, Farber D. Genetic and physical maps of the mouse rd3 locus; exclusion of the ortholog of USH2A. Mamm Genome. 1999;10:657-61 pubmed
    ..40 +/- 0.57 cM. These flanking markers and the mouse ortholog of USH2A (Mush2a) were mapped in the T31 mouse radiation hybrid (RH) panel, with the result that D1MIT292/D1MIT209 and D1MIT510 ..
  2. Bhattacharya G, Miller C, Kimberling W, Jablonski M, Cosgrove D. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear Res. 2002;163:1-11 pubmed
    ..Here we report that this protein, which we refer to as usherin, is a new basement membrane protein. In the mouse, usherin has a broad, but not ubiquitous, tissue distribution...
  3. Chen Q, Zou J, Shen Z, Zhang W, Yang J. Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2. J Biol Chem. 2014;289:36070-88 pubmed publisher
    ..Among the three USH clinical types, type 2 (USH2) occurs most commonly. USH2A, GPR98, and WHRN are three known causative genes of USH2, whereas PDZD7 is a modifier gene found in USH2 patients...
  4. Zou J, Zheng T, Ren C, Askew C, Liu X, Pan B, et al. Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice. Hum Mol Genet. 2014;23:2374-90 pubmed publisher
    ..At the molecular level, PDZD7 determines the localization of the USH2 protein complex, composed of USH2A, GPR98 and WHRN, to ankle links in developing cochlear hair cells, likely through its direct interactions with ..
  5. Zallocchi M, Sisson J, Cosgrove D. Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells. Biochemistry. 2010;49:1236-47 pubmed publisher
    ..This complex(es) is present primarily in transport vesicles at the apical pole of tracheal epithelial cells, predicting that Usher proteins may be directionally transported as complexes in hair cells and photoreceptors. ..
  6. Lu B, Wang S, Francis P, Li T, Gamm D, Capowski E, et al. Cell transplantation to arrest early changes in an ush2a animal model. Invest Ophthalmol Vis Sci. 2010;51:2269-76 pubmed publisher
    ..Here the authors studied morphologic and functional changes in an animal model, the Ush2a mouse, and explored whether transplantation of forebrain-derived progenitor cells might affect the progress of ..
  7. Reiners J, Nagel Wolfrum K, Jürgens K, Märker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006;83:97-119 pubmed
    ..The two USH2 genes code for the transmembrane protein USH2A, also termed USH2A ("usherin") and the G-protein-coupled 7-transmembrane receptor VLGR1b (USH2C), respectively, whereas the USH3A gene ..
  8. Zou J, Mathur P, Zheng T, Wang Y, Almishaal A, Park A, et al. Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. Hum Mol Genet. 2015;24:6944-57 pubmed publisher
    ..Our thorough phenotypical characterization of USH2 mouse models is essential for future use of these animal models in therapeutic development. ..
  9. Roeseler D, Sachdev S, Buckley D, Joshi T, Wu D, Xu D, et al. Elongation factor 1 alpha1 and genes associated with Usher syndromes are downstream targets of GBX2. PLoS ONE. 2012;7:e47366 pubmed publisher
    ..EEF1A1, ROBO1, PLXNA4, SLIT3, NRP1, and NOTCH2, as well as genes associated with the Usher syndrome, PCDH15 and USH2A, and are plausible candidates contributing to the developmental defects in Gbx2(-/-) mice...

More Information


  1. Liu X, Bulgakov O, Darrow K, Pawlyk B, Adamian M, Liberman M, et al. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A. 2007;104:4413-8 pubmed
    ..In this article, we show that the USH2A protein, also known as usherin, is an exceptionally large ( approximately 600-kDa) matrix protein expressed specifically in retinal ..
  2. Van Wijk E, van der Zwaag B, Peters T, Zimmermann U, te Brinke H, Kersten F, et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum Mol Genet. 2006;15:751-65 pubmed
    ..of whirlin are widely and differentially expressed, and we provide evidence that whirlin directly associates with USH2A isoform b and VLGR1b, two proteins that we previously reported to be part of the Usher protein interactome...
  3. Reiners J, Van Wijk E, Märker T, Zimmermann U, Jürgens K, te Brinke H, et al. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005;14:3933-43 pubmed
    ..and genetically heterogeneous with at least 11 chromosomal loci assigned to the three USH types (USH1A-G, USH2A-C, USH3A)...
  4. Bhattacharya G, Cosgrove D. Evidence for functional importance of usherin/fibronectin interactions in retinal basement membranes. Biochemistry. 2005;44:11518-24 pubmed
    ..The gene encodes a 180 kDa basement membrane glycoprotein called usherin. Here, we demonstrated a specific interaction between usherin and fibronectin in retinal basement membranes...
  5. Bhattacharya G, Kalluri R, Orten D, Kimberling W, Cosgrove D. A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure. J Cell Sci. 2004;117:233-42 pubmed
    b>Usherin is a basement membrane protein encoded by the gene associated with Usher syndrome type IIa, the most common deaf/blind disorder...
  6. Pearsall N, Bhattacharya G, Wisecarver J, Adams J, Cosgrove D, Kimberling W. Usherin expression is highly conserved in mouse and human tissues. Hear Res. 2002;174:55-63 pubmed
    ..b>Usherin is a basement membrane protein encoded by the USH2A gene...
  7. Huang D, Eudy J, Uzvolgyi E, Davis J, Talmadge C, Pretto D, et al. Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease. Genomics. 2002;80:195-203 pubmed
    ..We recently identified the human Usher syndrome type IIA gene (USH2A) on chromosome 1q41, which encodes a protein possessing 10 laminin epidermal growth factor and four fibronectin ..
  8. Michalski N, Michel V, Bahloul A, Lefevre G, Barral J, Yagi H, et al. Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci. 2007;27:6478-88 pubmed
    ..Here, we show that the transmembrane protein usherin, the putative transmembrane protein vezatin, and the PDZ (postsynaptic density-95/Discs large/zona occludens-1) ..
  9. Maerker T, Van Wijk E, Overlack N, Kersten F, McGee J, Goldmann T, et al. A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells. Hum Mol Genet. 2008;17:71-86 pubmed
    ..Furthermore, SANS provides a linkage to the microtubule transport machinery, whereas whirlin may anchor USH2A isoform b and VLGR1b (very large G-protein coupled receptor 1b) via binding to their cytodomains at specific ..
  10. Adato A, Lefevre G, Delprat B, Michel V, Michalski N, Chardenoux S, et al. Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. Hum Mol Genet. 2005;14:3921-32 pubmed
    ..It is the most common genetic form of USH. USH2A encodes usherin, which was previously defined as a basement membrane protein...
  11. Zou J, Luo L, Shen Z, Chiodo V, Ambati B, Hauswirth W, et al. Whirlin replacement restores the formation of the USH2 protein complex in whirlin knockout photoreceptors. Invest Ophthalmol Vis Sci. 2011;52:2343-51 pubmed publisher
    ..Mutations in this gene cause disruption of the USH2 protein complex composed of USH2A and VLGR1 at the periciliary membrane complex (PMC) in photoreceptors...
  12. Cosgrove D, Zallocchi M. Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol. 2014;46:80-9 pubmed publisher