Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:USH2 complex
go back to main search page
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



show annotations for term's descendants           Sort by:
 
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
paths to the root