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3752 KCND3

3752

KCND3

potassium voltage-gated channel subfamily D member 3

protein-coding

Homo sapiens

基因描述

Type Description
Definition potassium voltage-gated channel subfamily D member 3

研究结论

Date Results Publications
2021-02-20 13:35:00 Inter-Regulation of Kv4.3 and Voltage-Gated Sodium Channels Underlies Predisposition to Cardiac and Neuronal Channelopathies. 32709127
2020-10-24 13:58:00 KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern. 31600170
2020-03-14 11:43:00 we utilized the NGS technology to identify two novel KCND3 mutations from two distinct pedigrees with molecularly unassigned SCA. Our clinical observations broaden the genotypic and phenotypic spectrum of SCA19/22 to include cerebellar ataxia, developmental delay, cognitive impairment, myoclonus, and dystonia, thereby emphasizing the significance of KCND3 mutations in a wide range of different neurological disorders. 31293010
2019-12-14 10:49:00 The S248R and R250T mutations of SCN1Bbeta gene caused gain-of-function of Ito by associated with Kv4.3, which maybe underlie the early repolarization syndrome (ERS) phenotype of the probands. 30160358
2019-07-20 10:14:00 The alpha subunit of Ito Kv4.3 can interact with and modify the localization of the alpha subunit of IKr hERG, thus providing potentially novel insights into the molecular mechanism of the malignant ventricular arrhythmia in heart failure. 29259226

名称对应

Type IDs
Synonymous BRGDA9, KCND3L, KCND3S, KSHIVB, KV4.3, SCA19, SCA22
Gene
UniProtKB-ID: KCND3_HUMAN, A0A024R0C6_HUMAN
UniprotKB: Q9UK17, A0A024R0C6
UniParc: UPI000003050A, UPI0000030509
EMBL: AF166009, AF187964, BC113475, AF166011, AF205857, CH471122, AF120491, AF048712, AF166010, BC113477, AF048713, AF187963, AL049557, AL450997, AL512665, AF205856
Ensembl: ENSG00000171385
KO: hsa:3752
Nucleutide sequences
EMBL-CDS: AAF68177.1, AAF20925.1, AAF68178.1, AAF20924.1, EAW56511.1, AAF01045.1, AAC05121.1, AAD38898.1, AAF01044.1, AAI13476.1, AAC05122.1, AAI13478.1, EAW56512.1
Gene_ORFName: hCG_40081
Ensembl_TRS: ENST00000302127, ENST00000369697, ENST00000315987
Protein sequencees
Ensembl_PRO: ENSP00000306923, ENSP00000319591, ENSP00000358711
RefSeq: NP_004971.2, XP_011539729.1, XP_011539728.1, NP_001365899.1, XP_006710695.1, XP_016856734.1, NP_001365898.1, XP_016856733.1, XP_006710692.1, XP_011539730.1, XP_006710694.1, XP_011539727.1, NP_751948.1
Others
UniRef100: UniRef100_Q9UK17, UniRef100_A0A024R0C6
UniRef90: UniRef90_Q62897, UniRef90_Q62897-2
UniRef50: UniRef50_Q63881, UniRef50_Q62897-2
UniGene: Hs.666367
CCDS: CCDS844.1, CCDS843.1

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