Property Summary

NCBI Gene PubMed Count 18
Grant Count 5
R01 Count 5
Funding $298,307.2
PubMed Score 6.16
PubTator Score 27.47

Knowledge Summary

Patent (2,171)

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Celiac disease 112 1.0

Expression

Synonym

Accession Q9NPA1 B7Z9C9 D3DNR2 E9PER5 Q9NPG7 Q9NRM9 Q9UHN3
Symbols HBETA3
KCNMB2
KCNMBL
BKBETA3
SLOBETA3
SLO-BETA-3
K(VCA)BETA-3

Gene

Gene RIF (5)

PMID Text
19204046 Report beta subunit (KNMB1-4)-specific modulations of BK channel function by a Slo1 mutation associated with epilepsy and dyskinesia.
18591419 The KCNMB3 isoforms beta3a-d may have unique functions in primates.
16958040 Observational study of gene-disease association. (HuGE Navigator)
16958040 The frequency of the delA750 mutation was significantly increased in idiopathic generalized epilepsy (7.9%) compared to that in the controls (5.5%; P = 0.016, one-sided; OR = 1.52; 95%-CI: 1.05-2.21).
10758170 HIV-1 gp120 from both CCR5- and CXCR4-tropic HIV-1 strains opens calcium-activated potassium (K(Ca)), chloride, and calcium-permeant nonselective cation channels in macrophages; these signals are mediated by CCR5 and CXCR4

AA Sequence

MDFSPSSELGFHFVAFILLTRHRTAFPASGKKRETDYSDGDPLDVHKRLPSSAGEDRAVMLGFAMMGFSV      1 - 70
LMFFLLGTTILKPFMLSIQREESTCTAIHTDIMDDWLDCAFTCGVHCHGQGKYPCLQVFVNLSHPGQKAL     71 - 140
LHYNEEAVQINPKCFYTPKCHQDRNDLLNSALDIKEFFDHKNGTPFSCFYSPASQSEDVILIKKYDQMAI    141 - 210
FHCLFWPSLTLLGGALIVGMVRLTQHLSLLCEKYSTVVRDEVGGKVPYIEQHQFKLCIMRRSKGRAEKS     211 - 279
//

Text Mined References (20)

PMID Year Title
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
23826284 2013 Polyunsaturated Fatty Acids Modulate the Association between PIK3CA-KCNMB3 Genetic Variants and Insulin Resistance.
19204046 2009 {beta} subunit-specific modulations of BK channel function by a mutation associated with epilepsy and dyskinesia.
18830713 2008 A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33.
18591419 2008 Species-specific Differences among KCNMB3 BK beta3 auxiliary subunits: some beta3 N-terminal variants may be primate-specific subunits.
16958040 2007 Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy.
16641997 2006 The DNA sequence, annotation and analysis of human chromosome 3.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14612589 2003 Variants of the KCNMB3 regulatory subunit of maxi BK channels affect channel inactivation.
12740608 2003 Redox-sensitive extracellular gates formed by auxiliary beta subunits of calcium-activated potassium channels.
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