Property Summary

NCBI Gene PubMed Count 15
Grant Count 7
R01 Count 7
Funding $685,170
PubMed Score 19.87
PubTator Score 11.58

Knowledge Summary

Patent (1,801)

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma -1.100 0.020
ependymoma -1.400 0.000
glioblastoma -1.400 0.000
group 3 medulloblastoma 2.900 0.000
atypical teratoid/rhabdoid tumor -1.400 0.000
medulloblastoma, large-cell 1.100 0.006
pediatric high grade glioma -1.300 0.000
pilocytic astrocytoma -1.600 0.000
lung carcinoma 2.100 0.000
ovarian cancer 1.200 0.000

Gene RIF (6)

PMID Text
25339316 Five de novo mutations were identified in four genes (SCNN1A, KCNJ16, KCNB2, and KCNT1) in three Brugada syndrome patients
23953852 The rs2128158 in KCNB2 showed significant associations with MaxDrinks.
22422395 stromatoxin-1 -sensitive KV2-containing channels are expressed in detrusor smooth muscle (DSM); they control DSM excitability, intracellular Ca2+ levels, and myogenic and nerve-evoked contractions
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18676988 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17903301 Genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MAEKAPPGLNRKTSRSTLSLPPEPVDIIRSKTCSRRVKINVGGLNHEVLWRTLDRLPRTRLGKLRDCNTH      1 - 70
ESLLEVCDDYNLNENEYFFDRHPGAFTSILNFYRTGKLHMMEEMCALSFGQELDYWGIDEIYLESCCQAR     71 - 140
YHQKKEQMNEELRREAETMREREGEEFDNTCCPDKRKKLWDLLEKPNSSVAAKILAIVSILFIVLSTIAL    141 - 210
SLNTLPELQETDEFGQLNDNRQLAHVEAVCIAWFTMEYLLRFLSSPNKWKFFKGPLNVIDLLAILPYYVT    211 - 280
IFLTESNKSVLQFQNVRRVVQIFRIMRILRILKLARHSTGLQSLGFTLRRSYNELGLLILFLAMGIMIFS    281 - 350
SLVFFAEKDEDATKFTSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIAGVLVIALPIPIIVNNF    351 - 420
SEFYKEQKRQEKAIKRREALERAKRNGSIVSMNLKDAFARSMELIDVAVEKAGESANTKDSADDNHLSPS    421 - 490
RWKWARKALSETSSNKSFENKYQEVSQKDSHEQLNNTSSSSPQHLSAQKLEMLYNEITKTQPHSHPNPDC    491 - 560
QEKPERPSAYEEEIEMEEVVCPQEQLAVAQTEVIVDMKSTSSIDSFTSCATDFTETERSPLPPPSASHLQ    561 - 630
MKFPTDLPGTEEHQRARGPPFLTLSREKGPAARDGTLEYAPVDITVNLDASGSQCGLHSPLQSDNATDSP    631 - 700
KSSLKGSNPLKSRSLKVNFKENRGSAPQTPPSTARPLPVTTADFSLTTPQHISTILLEETPSQGDRPLLG    701 - 770
TEVSAPCQGPSKGLSPRFPKQKLFPFSSRERRSFTEIDTGDDEDFLELPGAREEKQVDSSPNCFADKPSD    771 - 840
GRDPLREEGSVGSSSPQDTGHNCRQDIYHAVSEVKKDSSQEGCKMENHLFAPEIHSNPGDTGYCPTRETS    841 - 910
M//

Text Mined References (17)

PMID Year Title
27619418 2016 Pore size matters for potassium channel conductance.
25339316 2014 Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndrome.
23953852 2013 Genome-wide association studies of maximum number of drinks.
22422395 2012 Expression and function of K(V)2-containing channels in human urinary bladder smooth muscle.
22412388 2012 A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20125193 2010 Common genetic variation and performance on standardized cognitive tests.
19010793 2009 Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.
18676988 2008 A high-density association screen of 155 ion transport genes for involvement with common migraine.
17903301 2007 Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study.
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