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7399 USH2A

7399

USH2A

usherin

protein-coding

Homo sapiens

基因描述

Type Description
Definition usherin

研究结论

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

名称对应

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

全选

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