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3764 KCNJ8

3764

KCNJ8

potassium voltage-gated channel subfamily J member 8

protein-coding

Homo sapiens

基因描述

Type Description
Definition potassium voltage-gated channel subfamily J member 8

研究结论

Date Results Publications
2021-01-16 15:57:00 Three-dimensional facial morphology in Cantu syndrome. 32100467
2015-02-14 10:44:00 KCNJ8-S422L as pathogenic for J-wave syndromes failed to appropriately account for European population structure and the variant is likely benign, or (b) Ashkenazi Jews may be at significantly increased risk of J-wave syndromes 23632791
2015-01-24 13:12:00 We identified a de novo missense mutation encoding Kir6.1[p.Cys176Ser] in the patient. Kir6.1[p.Cys176Ser] channels exhibited markedly higher activity than wild-type channels, as a result of reduced ATP sensitivity. 24700710
2013-10-19 14:36:00 KATP channels are up-regulated with increasing age in human myometrium 23369859
2013-07-27 10:10:00 Data indicate that pharmacological KvLQT1 and KATP (Kir6.1) inhibition or silencing with siRNAs down-regulated alpha-ENaC expression. 22406554

名称对应

Type IDs
Synonymous KIR6.1, uKATP-1
Gene
UniProtKB-ID: KCNJ8_HUMAN, A0A024RAV6_HUMAN
UniprotKB: Q15842, A0A024RAV6
UniParc: UPI000012D8A3
EMBL: D50312, D50315, CH471094, BC000544
Ensembl: ENSG00000121361
KO: hsa:3764
Nucleutide sequences
EMBL-CDS: BAA08851.1, AAH00544.1, BAA08852.1, EAW96450.1, EAW96451.1
Gene_ORFName: hCG_1811070
Ensembl_TRS: ENST00000665145, ENST00000240662, ENST00000667884
Protein sequencees
Ensembl_PRO: ENSP00000499300, ENSP00000499462, ENSP00000240662
RefSeq: XP_016874773.1, XP_005253415.1, NP_004973.1, XP_016874772.1
Others
UniRef100: UniRef100_Q15842
UniRef90: UniRef90_Q15842
UniRef50: UniRef50_Q15842
UniGene: Hs.102308, Hs.619408, Hs.741642
CCDS: CCDS8692.1

全选

研究热度
发表文献
研究结论
热点单位
排名 科研单位 文献
1

Washington University School of Medicine

3
2

University College London

2
3

Georgia State University

2
4

Chiba University School of Medicine

2
5

Institute for Research in Biomedicine (IRB Barcelona)

1
热点人员
排名 研究人员 文献
1

Colin G Nichols

4
2

N Inagaki

3
3

S Seino

3
4

Joao A Paulo

2
5

John Szpyt

2
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