Type | Description |
---|---|
Definition | usherin |
Date | Results | Publications |
---|---|---|
2021-03-20 13:28:00 | Identification of 13 novel USH2A mutations in Chinese retinitis pigmentosa and Usher syndrome patients by targeted next-generation sequencing. | 31904091 |
2021-03-13 13:24:00 | USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans. | 33288907 |
2021-02-13 13:20:00 | Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted nextgeneration sequencing. | 32319668 |
2020-12-26 13:12:00 | Baseline Visual Field Findings in the RUSH2A Study: Associated Factors and Correlation With Other Measures of Disease Severity. | 32446738 |
2020-11-21 13:28:00 | Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2. | 32093671 |
Type | IDs |
---|---|
Synonymous | RP39, US2, USH2, dJ1111A8.1 |
Gene |
UniProtKB-ID:
USH2A_HUMAN
UniprotKB:
O75445
UniParc:
UPI00006E226D,
UPI000034E5B6,
UPI000022B250
EMBL:
AF091889,
AF091880,
AY481573,
AF091888,
AF091884,
AF091881,
AL445650,
AC093581,
AL358858,
AL358452,
AF091875,
AF091878,
AF091885,
AF091876,
AF091883,
AF091873,
AF091877,
AF091887,
AC119429,
AC138024,
AF091879,
AC092799,
AF091886,
AL513305,
AF055580,
AF091874,
AF091882,
AL139259
Ensembl:
ENSG00000042781
KO:
hsa:7399
|
Nucleutide sequences |
EMBL-CDS:
AAS47698.1,
AAC23748.2,
AAF75819.1
Ensembl_TRS:
ENST00000674083,
ENST00000307340,
ENST00000366942
|
Protein sequencees |
Ensembl_PRO:
ENSP00000501296,
ENSP00000305941,
ENSP00000355909
RefSeq:
NP_009054.6,
NP_996816.3
|
Others |
UniRef100:
UniRef100_O75445
UniRef90:
UniRef90_O75445
UniRef50:
UniRef50_O75445
UniGene:
Hs.655974
CCDS:
CCDS1516.1,
CCDS31025.1
|
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Refseq |
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