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8514 KCNAB2

8514

KCNAB2

potassium voltage-gated channel subfamily A regulatory beta subunit 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition potassium voltage-gated channel subfamily A regulatory beta subunit 2

研究结论

Date Results Publications
2018-01-06 11:02:00 The results show that KvBeta 2 dysregulation of Kv4.3 is involved in the pathogenesis of Brugada Syndrome. This new finding also expands the list of genes associated with susceptibility to BrS and may contribute to improve molecular diagnosis of this cardiac arrhythmia disorder. 27287695
2013-08-10 11:20:00 Results identified gain and loss of function mutations which lead to increased and decreased potassium currents enhancing AF. 23264583
2013-06-01 12:02:00 Incretin regulation of beta-cell function involves the acetylation of Kv beta2. 23390957

名称对应

Type IDs
Synonymous AKR6A5, HKvbeta2, HKvbeta2.1, HKvbeta2.2, KCNA2B, KV-BETA-2
Gene
UniProtKB-ID: KCAB2_HUMAN, A1PR14_HUMAN, B2R776_HUMAN
UniprotKB: Q13303, A1PR14, B2R776
UniParc: UPI000175063D, UPI000002AD0B, UPI0000E04E66, UPI000035E741, UPI000012E16D, UPI00005EE23A
EMBL: BC126424, U33429, BC110351, AL035406, AK289819, AF044253, AK131252, AK124696, BC130413, AK315858, CH471130, AK312871, AF029749
Ensembl: ENSG00000069424
KO: hsa:8514
Nucleutide sequences
EMBL-CDS: AAC50955.1, AAI26425.1, BAD18431.1, AAI10352.1, AAI30414.1, BAF98749.1, AAB84170.1, AAB99859.1, BAF82508.1, BAG54071.1, EAW71512.1, EAW71515.1, BAG35723.1
Gene_ORFName: hCG_22633
Ensembl_TRS: ENST00000378092, ENST00000669250, ENST00000378097, ENST00000352527, ENST00000428161, ENST00000671676, ENST00000378083, ENST00000164247, ENST00000668559, ENST00000602612, ENST00000458166, ENST00000666163
Protein sequencees
Ensembl_PRO: ENSP00000367323, ENSP00000400285, ENSP00000367337, ENSP00000499496, ENSP00000499361, ENSP00000499370, ENSP00000318772, ENSP00000164247, ENSP00000367332, ENSP00000499485, ENSP00000473602, ENSP00000396167
RefSeq: NP_742128.1, XP_016858108.1, NP_001186791.1, XP_016858109.1, NP_001186789.1, XP_011540624.1, XP_011540623.1, XP_016858110.1, XP_005263571.1, NP_003627.1, XP_016858107.1, NP_001186792.1, NP_001186790.1
Others
UniRef100: UniRef100_Q13303, UniRef100_B2R776
UniRef90: UniRef90_F7GDA0, UniRef90_Q13303
UniRef50: UniRef50_Q13303, UniRef50_P62482
UniGene: Hs.440497, Hs.735032
CCDS: CCDS56.1, CCDS55571.1, CCDS55.1, CCDS55570.1

全选

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研究热度

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