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3773 KCNJ16

3773

KCNJ16

potassium voltage-gated channel subfamily J member 16

protein-coding

Homo sapiens

基因描述

Type Description
Definition potassium voltage-gated channel subfamily J member 16

研究结论

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

名称对应

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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