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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 ISO (MGI:4454934|PMID:20502675), (MGI:5618171|PMID:25406310) RGD PMID:20502675 PMID:25406310 MGI:4454934 MGI:5618171 NCBI chr 2:8,926,843...9,504,455
Ensembl chr 2:8,926,850...9,504,134
JBrowse link
G Pdzd7 PDZ domain containing 7 part_of ISO (MGI:5618171|PMID:25406310) RGD PMID:25406310 MGI:5618171 NCBI chr 1:264,776,393...264,796,206
Ensembl chr 1:264,776,398...264,794,938
JBrowse link
G Ush2a usherin part_of ISS
ISO
GO_REF:0000024
(MGI:4454934|PMID:20502675), (MGI:5618171|PMID:25406310)
UniProt
RGD
PMID:20502675 PMID:25406310 GO_REF:0000024 MGI:4454934 MGI:5618171 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Whrn whirlin part_of IEA
ISS
ISO
GO_REF:0000107
GO_REF:0000024
(MGI:4454934|PMID:20502675), (MGI:5618171|PMID:25406310)
Ensembl
UniProt
RGD
PMID:20502675 PMID:25406310 GO_REF:0000024 GO_REF:0000107 MGI:4454934 MGI:5618171 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
JBrowse link

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  cellular_component 20142
    protein-containing complex 6031
      USH2 complex 4
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