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6263 RYR3

6263

RYR3

ryanodine receptor 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition ryanodine receptor 3

研究结论

Date Results Publications
2021-02-06 13:48:00 The genomic and clinical landscape of fetal akinesia. 31680123
2020-01-04 11:26:00 RYR3 variants are associated with risk of and age of onset for hypertension, diabetes, and Alzheimer disease. 29590321
2019-12-14 11:26:00 The Ryr Ca2+ release channel is central to cytoplasmic Ca2+ signalling in skeletal muscle, the heart, and many other tissues, playing a vital role in muscular contraction. 31263958
2019-04-20 12:21:00 Mutations in RYR3 Gene is associated with Gender Dysphoria. 28827537
2017-02-25 10:39:00 a genome-wide linkage scan and regional association fine-mapping identified variants in the RYR3 gene as a quantitative trail locus for plasma adiponectin levels in Chinese population 27858853

名称对应

Type IDs
Synonymous RYR-3
Gene
UniProtKB-ID: RYR3_HUMAN, A0A0U1RRH1_HUMAN
UniprotKB: Q15413, A0A0U1RRH1
UniParc: UPI0000E5B01A, UPI0001F992D9, UPI0000E5B01B, UPI0005D03348
EMBL: AJ001515, AC067793, AC011938, AC010809, X74270, AC055874, X74269, AB001025, AC087638, AJ002512
Ensembl: ENSG00000198838
KO: hsa:6263
Nucleutide sequences
EMBL-CDS: CAA52327.1, CAA52326.1, CAA05503.1, BAA23795.1, CAA04798.1
Ensembl_TRS: ENST00000415757, ENST00000634891, ENST00000634418
Protein sequencees
Ensembl_PRO: ENSP00000489262, ENSP00000399610, ENSP00000489529
RefSeq: XP_016877964.1, XP_016877965.1, XP_016877960.1, XP_016877961.1, XP_016877962.1, XP_011520182.1, XP_016877957.1, XP_016877959.1, NP_001230925.1, NP_001027.3, XP_016877963.1, XP_024305784.1, XP_024305783.1, XP_016877958.1, XP_016877966.1
Others
UniRef100: UniRef100_Q15413, UniRef100_A0A0U1RRH1
UniRef90: UniRef90_A0A0U1RRH1, UniRef90_Q15413
UniRef50: UniRef50_Q9TS33-4, UniRef50_B0LPN4
UniGene: Hs.709373
CCDS: CCDS58351.1, CCDS45210.1

全选

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