Type | Description |
---|---|
Definition | potassium voltage-gated channel subfamily J member 16 |
Date | Results | Publications |
---|---|---|
2018-06-16 10:55:00 | HNF1beta is a transcriptional activator of Kcnj16. Hence, patients with HNF1beta mutations may have reduced Kir5.1 activity in the kidney, resulting in hypokalemia and hypomagnesemia. | 28577853 |
2017-03-11 11:40:00 | Gene expression levels of three randomly selected DEGs, VCAN, COL5A1 and KCNJ16, were examined using RT-PCR in 10 ATC samples.. angiogenesis was activated by the high expression of CTHRC1, VCAN and POSTN, providing necessary nutrition for tumor cells | 27599582 |
2016-10-22 12:17:00 | Variability has been found in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel approximately 1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. | 26663529 |
2015-10-31 11:13:00 | Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients | 25339316 |
2014-06-28 13:52:00 | study provides an explanation for the pathophysiology of the p.A167V KCNJ10 mutation, which had not been considered pathogenic on its own; findings provide evidence for functional cooperation of KCNJ10 and KCNJ16; in vitro ascertainment of KCNJ10 function may necessitate co-expression with KCNJ16 | 24193250 |
Type | IDs |
---|---|
Synonymous | BIR9, KIR5.1 |
Gene |
UniProtKB-ID:
KCJ16_HUMAN,
Q8N538_HUMAN,
A8K434_HUMAN,
K7EJR9_HUMAN
UniprotKB:
Q9NPI9,
Q8N538,
A8K434,
K7EJR9
UniParc:
UPI000012D8B3,
UPI000003E7B5,
UPI000006DEA4,
UPI00015DA6AE
EMBL:
AF153817,
AF153815,
AC005208,
BC033038,
AF179353,
AF153816,
AF153814,
CH471099,
KF459700,
AK290799
Ensembl:
ENSG00000153822
KO:
hsa:3773
|
Nucleutide sequences |
EMBL-CDS:
AAF73238.1,
AAF73240.1,
AAF73239.1,
AAF73244.1,
AAG09401.1,
AAH33038.1,
BAF83488.1,
EAW89090.1,
EAW89091.1
Gene_ORFName:
hCG_1643520
Ensembl_TRS:
ENST00000392671,
ENST00000615244,
ENST00000589377,
ENST00000283936,
ENST00000392670,
ENST00000585558
|
Protein sequencees |
Ensembl_PRO:
ENSP00000465967,
ENSP00000376438,
ENSP00000479817,
ENSP00000283936,
ENSP00000376439,
ENSP00000465295
RefSeq:
XP_016880098.1,
NP_733937.3,
NP_001278552.2,
XP_006721948.1,
NP_061128.3,
NP_001257351.1,
XP_006721950.1,
NP_001278551.2,
XP_005257394.1,
XP_016880099.1,
XP_006721949.1,
NP_001278553.1,
NP_001278554.1,
NP_733938.3,
XP_011523083.1
|
Others |
UniRef100:
UniRef100_A8K434,
UniRef100_Q8N538,
UniRef100_Q9NPI9,
UniRef100_K7EJR9
UniRef90:
UniRef90_Q9NPI9
UniRef50:
UniRef50_Q9NPI9
UniGene:
Hs.463985
CCDS:
CCDS11687.1,
CCDS74141.1
|
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