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3785 KCNQ2

3785

KCNQ2

potassium voltage-gated channel subfamily Q member 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition potassium voltage-gated channel subfamily Q member 2

研究结论

Date Results Publications
2021-02-27 13:46:00 Ictal and interictal electroencephalographic findings can contribute to early diagnosis and prompt treatment in KCNQ2-associated epileptic encephalopathy. 32863083
2021-02-20 13:36:00 Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes. 32770121
2021-02-06 13:58:00 Association between KCNQ2, TCF4 and RGS18 polymorphisms and silent brain infarction based on wholeexome sequencing. 32319632
2020-12-12 13:26:00 Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy. 32179837
2020-10-03 12:58:00 Heteromeric Assembly of Truncated Neuronal Kv7 Channels: Implications for Neurologic Disease and Pharmacotherapy. 32580997

名称对应

Type IDs
Synonymous BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
Gene
UniProtKB-ID: KCNQ2_HUMAN, Q53Y30_HUMAN
UniprotKB: O43526, Q53Y30
UniParc: UPI000002A66F, UPI000002A670, UPI000002A672, UPI000002A671, UPI00001279ED, UPI000002A673
EMBL: CH471077, AL121829, AF110020, BC000699, D82346, AF074247, AL121827, AL353658, Y15065, BT007043, AF033348
Ensembl: ENSG00000075043
KO: hsa:3785
Nucleutide sequences
EMBL-CDS: AAH00699.1, BAA11557.1, AAC25921.1, AAD16988.1, CAA75348.1, AAB97315.1, EAW75275.1, AAP35692.1
Gene_ORFName: hCG_23426
Ensembl_TRS: ENST00000344462, ENST00000359125, ENST00000360480, ENST00000626839, ENST00000344425
Protein sequencees
Ensembl_PRO: ENSP00000345523, ENSP00000339611, ENSP00000352035, ENSP00000486706, ENSP00000353668
RefSeq: NP_001369164.1, NP_004509.2, NP_742105.1, XP_016883330.1, XP_016883331.1, XP_011527113.1, NP_742106.1, NP_742104.1, NP_742107.1, XP_016883332.1, XP_016883333.1, XP_016883334.1
Others
UniRef100: UniRef100_Q53Y30, UniRef100_O43526
UniRef90: UniRef90_Q9Z351-7, UniRef90_O43526
UniRef50: UniRef50_O43526, UniRef50_Q9Z351-7
UniGene: Hs.161851, Hs.652468
CCDS: CCDS13521.1, CCDS13519.1, CCDS13518.1, CCDS13520.1, CCDS46629.1

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