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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 Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 part_of
located_in		 ISO (MGI:4454934|PMID:20502675), (MGI:5618171|PMID:25406310)
(MGI:5618171|PMID:25406310)		 RGD PMID:20502675 PMID:25406310 MGI:4454934 MGI:5618171 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Pdzd7 PDZ domain containing 7 part_of
located_in		 ISO (MGI:5618171|PMID:25406310) RGD PMID:25406310 MGI:5618171 NCBI chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Ush2a usherin part_of
located_in		 ISS
ISO
IEA		 GO_REF:0000024
(MGI:5618171|PMID:25406310)
GO_REF:0000107
(MGI:4454934|PMID:20502675), (MGI:5618171|PMID:25406310)		 UniProt
RGD
Ensembl		 PMID:20502675 PMID:25406310 GO_REF:0000024 GO_REF:0000107 MGI:4454934 MGI:5618171 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Whrn whirlin part_of
located_in		 IEA
ISO
ISS		 GO_REF:0000107
(MGI:5618171|PMID:25406310)
GO_REF:0000024
(MGI:4454934|PMID:20502675), (MGI:5618171|PMID:25406310)		 Ensembl
RGD
UniProt		 PMID:20502675 PMID:25406310 GO_REF:0000024 GO_REF:0000107 MGI:4454934 MGI:5618171 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  cellular_component 19189
    protein-containing complex 5927
      USH2 complex 4
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