Sequence Detail

ID/Version

Q2QI47 E9QLJ9 Q9JLP3 (UniProt | EBI)

Last sequence update: 2011-07-27
Last annotation update: 2024-07-24

Sequence description from provider

RecName: Full=Usherin;AltName: Full=Usher syndrome type IIa protein homolog;AltName: Full=Usher syndrome type-2A protein homolog;Flags: Precursor;

Provider

SWISS-PROT

Sequence

Polypeptide 5193 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Ush2a	usherin	54	99	3	11

Sequence references in MGI

J:78438 Huang 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 Aug;80(2):195
J:106804 Reiners J, et al., Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005 Dec 15;14(24):3933-43
J:122415 Michalski N, et al., Molecular characterization of the ankle-link complex in cochlear hair cells and its role in the hair bundle functioning. J Neurosci. 2007 Jun 13;27(24):6478-88
J:160677 Yang J, et al., Ablation of whirlin long isoform disrupts the USH2 protein complex and causes vision and hearing loss. PLoS Genet. 2010;6(5):e1000955
J:186070 Adato A, 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 Dec 15;14(24):3921-32
J:209073 Zou J, 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 May 1;23(9):2374-90
J:218667 Chen Q, et al., 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 Dec 26;289(52):36070-88
J:266117 Grati M, et al., Localization of PDZD7 to the stereocilia ankle-link associates this scaffolding protein with the Usher syndrome protein network. J Neurosci. 2012 Oct 10;32(41):14288-93