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477 ATP1A2

477

ATP1A2

ATPase Na+/K+ transporting subunit alpha 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition ATPase Na+/K+ transporting subunit alpha 2

研究结论

Date Results Publications
2021-03-20 13:36:00 Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2. 33711927
2020-11-21 13:34:00 A Chinese family with familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2. 31053037
2020-10-03 12:54:00 Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 30690204
2019-09-28 10:18:00 We have shown that mutations in CACNA1A, ATP1A2 and SCN1A are not the major cause of the disease in Finnish hemiplegic migraine patients 29486580
2019-07-20 11:16:00 Data implicate ATP1A2 as a new hypokalaemic periodic paralysis gene and leak currents as a common pathomechanism of hypokalaemic periodic paralysis. 30423015

名称对应

Type IDs
Synonymous FHM2, MHP2
Gene
UniProtKB-ID: AT1A2_HUMAN, A0A0S2Z3W6_HUMAN
UniprotKB: P50993, A0A0S2Z3W6
UniParc: UPI0000124FC1
EMBL: AL121987, CH471121, J05096, Y07494, AB018321, M27571, M27578, M27576, M16795, BC052271, KU177927
Ensembl: ENSG00000018625
KO: hsa:477
Nucleutide sequences
EMBL-CDS: EAW52740.1, AAH52271.2, EAW52741.1, AAA51797.1, BAA34498.2, CAA68793.1, AAA51799.1, AAA35575.1, ALQ33385.1
Ensembl_TRS: ENST00000361216
Protein sequencees
Ensembl_PRO: ENSP00000354490
RefSeq: NP_000693.1
Others
UniRef100: UniRef100_P50993
UniRef90: UniRef90_P50993
UniRef50: UniRef50_P50993
UniGene: Hs.34114
CCDS: CCDS1196.1

全选

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