| Type | Description |
|---|---|
| Definition | potassium voltage-gated channel subfamily A member 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-08-12 14:22:00 | these results suggest that Notch activation enhances CaSR-mediated increases in [Ca(2+)]cyt by enhancing store-operated Ca(2+) entry and inhibits KCNA5/KV1.5 and KCNA2/KV1.2, ultimately leading to voltage-activated Ca(2+) entry. | 32186932 |
| 2019-08-24 12:24:00 | recurrent de novo variants in the paralogous PVP motif of KCNA2 have previously been shown to abolish channel function and also cause early-onset epileptic encephalopathy. Importantly, this report extends the range of phenotypes associated with KCNA1 variants to include epileptic encephalopathy when the PVP motif is involved. | 30055040 |
| 2018-06-16 10:45:00 | We identified 3 patients with KCNA2 mutations with novel characteristics | 28806589 |
| 2017-11-04 11:36:00 | study indicates well represented genotype-phenotype associations between three subgroups of patients with KCNA2 encephalopathy according to the electrophysiological features of the mutations. | 29050392 |
| 2017-07-22 10:31:00 | Pharmacogenetic and case-control study evaluated the role of the variants of KCNA1, KCNA2, and KCNV2 in the susceptibility and drug resistance of genetic generalized epilepsies and revealed no significant association between 8 variants of KCNA1, KCNA2, and KCNV2 genes and risk or drug resistance of genetic generalized epilepsies after a Bonferroni correction for multiple comparisons. | 28658141 |
| Type | IDs |
|---|---|
| Synonymous | EIEE32, HBK5, HK4, HUKIV, KV1.2, MK2, NGK1, RBK2 |
| Gene |
UniProtKB-ID:
KCNA2_HUMAN
UniprotKB:
P16389
UniParc:
UPI000000DA61,
UPI00001279A1
EMBL:
AK290061,
CH471122,
AL365361,
L02752,
BC043564
Ensembl:
ENSG00000177301
KO:
hsa:3737
|
| Nucleutide sequences |
EMBL-CDS:
EAW56455.1,
AAA36141.1,
EAW56456.1,
AAH43564.1,
BAF82750.1
Ensembl_TRS:
ENST00000633222,
ENST00000638616,
ENST00000316361,
ENST00000369770,
ENST00000485317,
ENST00000638532
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000491977,
ENSP00000433109,
ENSP00000491613,
ENSP00000314520,
ENSP00000487785,
ENSP00000358785
RefSeq:
XP_011539698.1,
NP_004965.1,
XP_011539702.1,
XP_011539700.1,
XP_011539701.1,
XP_016856702.1,
NP_001191198.1,
XP_011539699.1
|
| Others |
UniRef100:
UniRef100_P16389
UniRef90:
UniRef90_P63141
UniRef50:
UniRef50_P63141
UniGene:
Hs.248139,
Hs.657199,
Hs.731191
CCDS:
CCDS55625.1,
CCDS827.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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