Property Summary

NCBI Gene PubMed Count 54
Grant Count 131
R01 Count 98
Funding $22,320,810.53
PubMed Score 357.57
PubTator Score 214.58

Knowledge Summary

Patent (4,428)

Expression

  Differential Expression (22)

Disease log2 FC p
glioblastoma -3.200 0.001
oligodendroglioma -1.100 0.000
osteosarcoma 1.717 0.023
ependymoma -2.200 0.000
medulloblastoma -2.200 0.001
atypical teratoid / rhabdoid tumor -3.300 0.000
medulloblastoma, large-cell -3.300 0.000
primitive neuroectodermal tumor -2.400 0.001
pancreatic ductal adenocarcinoma liver m... -2.502 0.000
colon cancer -2.400 0.000
breast carcinoma -1.300 0.003
fibroadenoma -1.500 0.034
cystic fibrosis -1.300 0.000
pediatric high grade glioma -2.400 0.002
pilocytic astrocytoma -1.100 0.020
lung carcinoma 1.600 0.000
progressive supranuclear palsy 1.300 0.019
ductal carcinoma in situ -2.800 0.000
invasive ductal carcinoma -3.100 0.002
ovarian cancer -3.100 0.000
pituitary cancer 1.300 0.000
psoriasis -1.500 0.000

Synonym

Accession Q14721 Q14193
Symbols DRK1
Kv2.1

Gene

Gene RIF (42)

PMID Text
26505474 KvS subunits modify the pharmacological response of Kv2 subunits when assembled in heterotetramers and illustrate the potential of KvS subunits to provide unique properties to the heterotetramers, as is the case for 4-AP on Kv2.1/Kv6.4 channels.
26503721 Epileptic V378A variant in KCNB1 changes ion selectivity, trafficking and expression of Kv2.1 channel.
26487174 inactivation regulation via Ca(2+)/calmodulin does not interfere with the beta subunit's enzymatic activity as an NADPH-dependent oxidoreductase, thus rendering the Kvb1.1 subunit a multifunctional receptor
26477325 Kv2.1 functional aberrations in humans are associated with developmental delay, infantile generalized seizures, hypotonia, and behavioural problems, and also highlight a critical role for Kv2.1 in regulating neuronal firing in neuronal circuits.
26377690 The results indicate that KCNB1 is likely associated with metabolic traits that may either predispose or protect from progression to metabolic syndrome.
26303499 HO-1 expression can strongly influence apoptosis via CO-mediated regulation of Kv2.1 activity
26242757 KCNE5 subunits may affect Kv2.1 homotetramers and Kv2.1/Kv6.4 heterotetramers in vivo, resulting in more tissue-specific fine-tuning mechanisms.
26240432 KCNB1 is a strong susceptibility gene for schizophrenia spectrum disorders in humans.
25908859 Glutamate exposure results in a loss of Kv2.1 clusters in neurons.
25164438 This study identified a de novo missense mutation in KCNB1 that encodes the KV 2.1 voltage-gated potassium channel.
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AA Sequence

MPAGMTKHGSRSTSSLPPEPMEIVRSKACSRRVRLNVGGLAHEVLWRTLDRLPRTRLGKLRDCNTHDSLL      1 - 70
EVCDDYSLDDNEYFFDRHPGAFTSILNFYRTGRLHMMEEMCALSFSQELDYWGIDEIYLESCCQARYHQK     71 - 140
KEQMNEELKREAETLREREGEEFDNTCCAEKRKKLWDLLEKPNSSVAAKILAIISIMFIVLSTIALSLNT    141 - 210
LPELQSLDEFGQSTDNPQLAHVEAVCIAWFTMEYLLRFLSSPKKWKFFKGPLNAIDLLAILPYYVTIFLT    211 - 280
ESNKSVLQFQNVRRVVQIFRIMRILRILKLARHSTGLQSLGFTLRRSYNELGLLILFLAMGIMIFSSLVF    281 - 350
FAEKDEDDTKFKSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIAGVLVIALPIPIIVNNFSEFY    351 - 420
KEQKRQEKAIKRREALERAKRNGSIVSMNMKDAFARSIEMMDIVVEKNGENMGKKDKVQDNHLSPNKWKW    421 - 490
TKRTLSETSSSKSFETKEQGSPEKARSSSSPQHLNVQQLEDMYNKMAKTQSQPILNTKESAAQSKPKEEL    491 - 560
EMESIPSPVAPLPTRTEGVIDMRSMSSIDSFISCATDFPEATRFSHSPLTSLPSKTGGSTAPEVGWRGAL    561 - 630
GASGGRFVEANPSPDASQHSSFFIESPKSSMKTNNPLKLRALKVNFMEGDPSPLLPVLGMYHDPLRNRGS    631 - 700
AAAAVAGLECATLLDKAVLSPESSIYTTASAKTPPRSPEKHTAIAFNFEAGVHQYIDADTDDEGQLLYSV    701 - 770
DSSPPKSLPGSTSPKFSTGTRSEKNHFESSPLPTSPKFLRQNCIYSTEALTGKGPSGQEKCKLENHISPD    771 - 840
VRVLPGGGAHGSTRDQSI                                                        841 - 858
//

Text Mined References (64)

PMID Year Title
26505474 2015 Modulation of Closed-State Inactivation in Kv2.1/Kv6.4 Heterotetramers as Mechanism for 4-AP Induced Potentiation.
26503721 2015 A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.
26487174 2015 Ca(2+)/calmodulin regulates Kv?1.1-mediated inactivation of voltage-gated K(+) channels.
26477325 2015 De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing.
26377690 2015 Association of KCNB1 polymorphisms with lipid metabolisms and insulin resistance: a case-control design of population-based cross-sectional study in Chinese Han population.
26303499 2015 Heme Oxygenase-1 Influences Apoptosis via CO-mediated Inhibition of K+ Channels.
26242757 2015 Auxiliary KCNE subunits modulate both homotetrameric Kv2.1 and heterotetrameric Kv2.1/Kv6.4 channels.
26240432 2016 AMIGO-Kv2.1 Potassium Channel Complex Is Associated With Schizophrenia-Related Phenotypes.
25908859 2015 Induction of stable ER-plasma-membrane junctions by Kv2.1 potassium channels.
25164438 2014 De novo KCNB1 mutations in epileptic encephalopathy.
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