Property Summary

NCBI Gene PubMed Count 29
Grant Count 29
R01 Count 27
Funding $3,514,445
PubMed Score 55.62
PubTator Score 33.35

Knowledge Summary

Patent (1,214)

Expression

  Differential Expression (20)

Disease log2 FC p
astrocytic glioma -2.700 0.002
ependymoma -3.300 0.000
oligodendroglioma -2.000 0.000
glioblastoma -3.900 0.000
osteosarcoma 1.184 0.000
medulloblastoma -3.700 0.000
atypical teratoid / rhabdoid tumor -3.700 0.000
medulloblastoma, large-cell -3.900 0.000
primitive neuroectodermal tumor -2.400 0.000
non-small cell lung cancer -1.622 0.000
lung cancer -1.600 0.000
colon cancer -1.400 0.000
pediatric high grade glioma -3.300 0.000
subependymal giant cell astrocytoma -2.337 0.042
Alzheimer's disease -1.200 0.048
Pick disease -1.700 0.001
Breast cancer -2.000 0.000
ductal carcinoma in situ -1.800 0.010
invasive ductal carcinoma -2.800 0.001
ovarian cancer -1.800 0.000

Gene RIF (7)

PMID Text
24951543 Genetic variations of KCNAB1 and CRYAA are associated with age-related nuclear cataract.
24946104 Protein kinase C inhibition results in a Kv 1.5 and Kv beta 1.3 pharmacology closer to Kv 1.5 channels
21333500 These results support KCNAB1 as a susceptibility gene for lateral temporal epilepsy , in agreement with previous studies showing that this gene may alter susceptibility to focal epilepsy.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18987637 Double-mutant cycle analysis indicates that R5 of Kvbeta1.3 interacts with A501 and T480 of Kv1.5, residues located deep within the pore of the channel.
17913586 Meta-analysis of gene-disease association. (HuGE Navigator)

AA Sequence

MLAARTGAAGSQISEENTKLRRQSGFSVAGKDKSPKKASENAKDSSLSPSGESQLRARQLALLREVEMNW      1 - 70
YLKLCDLSSEHTTVCTTGMPHRNLGKSGLRVSCLGLGTWVTFGGQISDEVAERLMTIAYESGVNLFDTAE     71 - 140
VYAAGKAEVILGSIIKKKGWRRSSLVITTKLYWGGKAETERGLSRKHIIEGLKGSLQRLQLEYVDVVFAN    141 - 210
RPDSNTPMEEIVRAMTHVINQGMAMYWGTSRWSAMEIMEAYSVARQFNMIPPVCEQAEYHLFQREKVEVQ    211 - 280
LPELYHKIGVGAMTWSPLACGIISGKYGNGVPESSRASLKCYQWLKERIVSEEGRKQQNKLKDLSPIAER    281 - 350
LGCTLPQLAVAWCLRNEGVSSVLLGSSTPEQLIENLGAIQVLPKMTSHVVNEIDNILRNKPYSKKDYRS     351 - 419
//

Text Mined References (34)

PMID Year Title
24951543 2014 Meta-analysis of genome-wide association studies in multiethnic Asians identifies two loci for age-related nuclear cataract.
24946104 2014 PKC inhibition results in a Kv 1.5 + Kv ?1.3 pharmacology closer to Kv 1.5 channels.
21333500 2011 Association of intronic variants of the KCNAB1 gene with lateral temporal epilepsy.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19713757 The molecular basis for the actions of KVbeta1.2 on the opening and closing of the KV1.2 delayed rectifier channel.
18987637 2008 Structural determinants of Kvbeta1.3-induced channel inactivation: a hairpin modulated by PIP2.
17913586 2007 Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study.
17903295 2007 Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.
17540341 2007 NADPH binding to beta-subunit regulates inactivation of voltage-gated K(+) channels.
More...