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