ONTOLOGY REPORT - ANNOTATIONS
Term: USH2 complex
Accession: GO:1990696
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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
G
Adgrv1
adhesion G protein-coupled receptor V1
part_of
ISO
(PMID:20502675), (PMID:25406310)
RGD
PMID:20502675 PMID:25406310
NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372
G
Pdzd7
PDZ domain containing 7
part_of
ISO IEA
(PMID:25406310) GO_REF:0000107
RGD Ensembl
PMID:25406310
GO_REF:0000107
NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999
G
Ush2a
usherin
part_of
ISS IEA ISO
GO_REF:0000024 GO_REF:0000107 (PMID:20502675), (PMID:25406310)
UniProt Ensembl RGD
PMID:20502675 PMID:25406310
GO_REF:0000024 GO_REF:0000107
NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217
G
Whrn
whirlin
part_of
IEA ISS ISO
GO_REF:0000107 GO_REF:0000024 (PMID:20502675), (PMID:25406310)
Ensembl UniProt RGD
PMID:20502675 PMID:25406310
GO_REF:0000024 GO_REF:0000107
NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381
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