Gene: KCNN3

Alternate names for this Gene: KCa2.3|SK3|SKCA3|ZLS3|hSK3

Gene Summary: Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: potassium calcium-activated channel subfamily N member 3

Type of Gene: protein-coding

rs13376333 in KCNN3 gene and Atrial Fibrillation PMID 20173747 2010 We identified an association on chromosome 1q21 to lone AF (rs13376333, adjusted odds ratio = 1.56; P = 6.3 x 10(-12)), and we replicated this association in two independent cohorts with lone AF (overall combined odds ratio = 1.52, 95% CI 1.40-1.64; P = 1.83 x 10(-21)). rs13376333 is intronic to KCNN3, which encodes a potassium channel protein involved in atrial repolarization.

PMID 29290336 2018 Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development.

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

PMID 28416818 2017 Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation.

PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

PMID 22544366 2012 Meta-analysis identifies six new susceptibility loci for atrial fibrillation.

rs6426985 in KCNN3 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs1218582 in KCNN3 gene and Malignant neoplasm of prostate PMID 23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.

rs61811867 in KCNN3 gene and Proliferative diabetic retinopathy PMID 30487263 2019 Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control.

rs1218582 in KCNN3 gene and Prostate carcinoma PMID 23535732 2013 Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.

PMID 29892016 2018 Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.

rs2798603 in KCNN3 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.