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ONTOLOGY REPORT - ANNOTATIONS


Term:USH2 complex
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Accession:GO:1990696 term browser browse the term
Definition:A protein complex composed of four proteins, loss of which results in Usher Syndrome type 2 (USH2 syndrome), a leading genetic cause of combined hearing and vision loss. This complex is conserved in many species; in mice, it is composed of USH2A, GPR98 (aka ADGRV1), WHRN, and PDZD7.
Synonyms:exact_synonym: USH2 quaternary protein complex


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USH2 complex term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adgrv1 adhesion G protein-coupled receptor V1 JBrowse link 2 8,926,843 9,504,455 RGD:1624291
G Pdzd7 PDZ domain containing 7 JBrowse link 1 264,776,393 264,796,206 RGD:1624291
G Ush2a usherin JBrowse link 13 106,750,738 107,434,195 RGD:1600115
RGD:1624291
G Whrn whirlin JBrowse link 5 79,235,541 79,317,206 RGD:1600115
RGD:1624291

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  cellular_component 20119
    protein-containing complex 5963
      USH2 complex 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.