USH2A / usherin functional-annotation report (Falcon deep research)

Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity

Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara

Electronic Gene Ontology annotations created by ARBA machine learning models

Combined Automated Annotation using Multiple IEA Methods

A mutation (2314delG) in the Usher syndrome type IIA gene: high prevalence and phenotypic variation.

Usherin expression is highly conserved in mouse and human tissues.

A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure.

Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.

The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1.

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

The matrisome: in silico definition and in vivo characterization by proteomics of normal and tumor extracellular matrices.

Whirlin and PDZ domain-containing 7 (PDZD7) proteins are both required to form the quaternary protein complex associated with Usher syndrome type 2.

Myosin VII, USH1C, and ANKS4B or USH1G Together Form Condensed Molecular Assembly via Liquid-Liquid Phase Separation.

Temporal and spatial assembly of inner ear hair cell ankle link condensate through phase separation.