KCNN3 Chromosome 1
Potassium calcium-activated channel subfamily N member 3
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What This Gene Does
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. [provided by RefSeq, Feb 2011]
Gene Info
Gene Group
Potassium calcium-activated channels
Locus Type
gene with protein product
Location
1q21.3
Ensembl
ENSG00000143603
Associated Conditions (2)
Zimmermann-Laband syndrome 3
Inborn genetic diseases
Key Variants
RS3831942
Conflicting classifications of pathogenicity
Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
Health Risk
RS76925601
Conflicting classifications of pathogenicity
Inborn genetic diseases, Zimmermann-Laband syndrome 3, Inborn genetic diseases
Health Risk
RS2524731280
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1571259807
Pathogenic
Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
Health Risk
RS1571260285
Pathogenic
Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
Health Risk
RS1571353663
Pathogenic
Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
Health Risk
RS2101782564
Pathogenic
Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS3831942 | Health Risk | Conflicting classifications of pathogenicity | Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3 |
| RS76925601 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Zimmermann-Laband syndrome 3, Inborn genetic diseases |
| RS2524731280 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1571259807 | Health Risk | Pathogenic | Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3 |
| RS1571260285 | Health Risk | Pathogenic | Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3 |
| RS1571353663 | Health Risk | Pathogenic | Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3 |
| RS2101782564 | Health Risk | Pathogenic | Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3 |