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5961 PRPH2

5961

PRPH2

peripherin 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition peripherin 2

研究结论

Date Results Publications
2021-03-20 13:28:00 PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation. 32660024
2020-07-18 11:34:00 Tetrameric peripherin-2/rds self-assembly is required for generating high-curvature membranes in cellulo, implicating the noncovalent tetramer as a minimal unit of function. 32041874
2020-06-13 11:20:00 The Late Endosomal Pathway Regulates the Ciliary Targeting of Tetraspanin Protein Peripherin 2. 30819798
2020-06-13 10:50:00 Mutation in PRPH2 gene is associated with inherited retinal dystrophy. 31618092
2020-03-21 11:44:00 two known retinal dystrophy genes, PRPH2 and CRX, achieved study-wide significance (p < 1.33 x 10-6) under a dominant disease model 30926958

名称对应

Type IDs
Synonymous AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2
Gene
UniProtKB-ID: PRPH2_HUMAN
UniprotKB: P23942
UniParc: UPI00001334A4
EMBL: BC074720, U07148, AL049843, U07149, U07147, M73531
Ensembl: ENSG00000112619
KO: hsa:5961
Nucleutide sequences
EMBL-CDS: AAA16958.1, AAH74720.1, AAA60260.1
Ensembl_TRS: ENST00000230381
Protein sequencees
Ensembl_PRO: ENSP00000230381
RefSeq: NP_000313.2
Others
UniRef100: UniRef100_P23942
UniRef90: UniRef90_P23942
UniRef50: UniRef50_P23942
UniGene: Hs.654489
CCDS: CCDS4871.1

全选

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研究热度

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