| Type | Description |
|---|---|
| Definition | potassium voltage-gated channel subfamily J member 8 |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:57:00 | Three-dimensional facial morphology in Cantu syndrome. | 32100467 |
| 2015-02-14 10:44:00 | KCNJ8-S422L as pathogenic for J-wave syndromes failed to appropriately account for European population structure and the variant is likely benign, or (b) Ashkenazi Jews may be at significantly increased risk of J-wave syndromes | 23632791 |
| 2015-01-24 13:12:00 | We identified a de novo missense mutation encoding Kir6.1[p.Cys176Ser] in the patient. Kir6.1[p.Cys176Ser] channels exhibited markedly higher activity than wild-type channels, as a result of reduced ATP sensitivity. | 24700710 |
| 2013-10-19 14:36:00 | KATP channels are up-regulated with increasing age in human myometrium | 23369859 |
| 2013-07-27 10:10:00 | Data indicate that pharmacological KvLQT1 and KATP (Kir6.1) inhibition or silencing with siRNAs down-regulated alpha-ENaC expression. | 22406554 |
| Type | IDs |
|---|---|
| Synonymous | KIR6.1, uKATP-1 |
| Gene |
UniProtKB-ID:
KCNJ8_HUMAN,
A0A024RAV6_HUMAN
UniprotKB:
Q15842,
A0A024RAV6
UniParc:
UPI000012D8A3
EMBL:
D50312,
D50315,
CH471094,
BC000544
Ensembl:
ENSG00000121361
KO:
hsa:3764
|
| Nucleutide sequences |
EMBL-CDS:
BAA08851.1,
AAH00544.1,
BAA08852.1,
EAW96450.1,
EAW96451.1
Gene_ORFName:
hCG_1811070
Ensembl_TRS:
ENST00000665145,
ENST00000240662,
ENST00000667884
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000499300,
ENSP00000499462,
ENSP00000240662
RefSeq:
XP_016874773.1,
XP_005253415.1,
NP_004973.1,
XP_016874772.1
|
| Others |
UniRef100:
UniRef100_Q15842
UniRef90:
UniRef90_Q15842
UniRef50:
UniRef50_Q15842
UniGene:
Hs.102308,
Hs.619408,
Hs.741642
CCDS:
CCDS8692.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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