| Type | Description |
|---|---|
| Definition | potassium voltage-gated channel subfamily J member 12 |
| Date | Results | Publications |
|---|---|---|
| 2019-06-22 11:56:00 | Therefore, we conclude that Kir2.2 p.Thr140Met may be most safely interpreted as a SPP susceptibility variant and it should be included in the genetic testing scheme for diagnosing SPP. | 30838349 |
| 2019-01-19 11:48:00 | Four of these 16 variants were rare damaging mutations including novel mutations in KCNJ12/KCNJ18, and GPRIN2 genes. This WES study in Iranian patients with ESCC, provides insight into the identification of novel germline mutations in familial ESCC. Our data suggest an association between specific mutations and increased risk of ESCC | 29405996 |
| 2018-01-20 10:42:00 | Cellular electrophysiology assays of mouse Kir2.1 and human Kir2.2 indicated that, consistent with simulations, the Leu residue increased the channel responses to phosphatidylinositol diphosphate (PIP2) through increased binding affinity and faster activation kinetics, and the deactivation kinetics decreased upon PIP2 inhibition. | 26520451 |
| 2017-09-09 12:11:00 | This report is the first to describe the KCNJ12 gene as a cause of familial dilated cardiomyopathy in patients | 28816949 |
| 2017-01-28 11:44:00 | Nav1.5 N-terminal domain binding to alpha1-syntrophin increases membrane density of human Kir2.1, Kir2.2 and Nav1.5 channels | 26786162 |
| Type | IDs |
|---|---|
| Synonymous | IRK-2, IRK2, KCNJN1, Kir2.2, Kir2.2v, hIRK, hIRK1, hkir2.2x, kcnj12x |
| Gene |
UniProtKB-ID:
KCJ12_HUMAN
UniprotKB:
Q14500
UniParc:
UPI00000725C7
EMBL:
AB074970,
AF005214,
U53143,
BC027982,
L36069,
AB182123
Ensembl:
ENSG00000184185
KO:
hsa:3768
|
| Nucleutide sequences |
EMBL-CDS:
AAH27982.1,
BAC02718.1,
AAC01951.1,
AAC50615.1,
BAD23901.1,
AAA65122.1
Ensembl_TRS:
ENST00000583088,
ENST00000331718
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000328150,
ENSP00000463778
RefSeq:
XP_011522133.1,
NP_066292.2,
XP_005256682.1
|
| Others |
UniRef100:
UniRef100_Q14500
UniRef90:
UniRef90_Q14500
UniRef50:
UniRef50_P63252
UniGene:
Hs.200629
CCDS:
CCDS11219.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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