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