KCNN2 Chromosome 5
Potassium calcium-activated channel subfamily N member 2
Upload your DNA to see your personal genotypes for variants in KCNN2.
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. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
Gene Info
Gene Group
Potassium calcium-activated channels
Locus Type
gene with protein product
Location
5q22.3
Ensembl
ENSG00000080709
Associated Conditions (17)
KCNN2-related disorder
Dystonia 34
myoclonic
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
Intellectual disability
Global developmental delay
Bradykinesia
Motor tics
Inborn genetic diseases
Autistic behavior
Cerebellar ataxia
Moderate intellectual disability
Seizure
Neurodevelopmental disorder
Mild intellectual disability
Dyskinesia
Severe intellectual disability
Key Variants
RS1335410914
Conflicting classifications of pathogenicity
KCNN2-related disorder, Dystonia 34, myoclonic
Health Risk
RS1761282406
Conflicting classifications of pathogenicity
Intellectual disability, Global developmental delay, Bradykinesia
Health Risk
RS2531643404
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1758880343
Likely pathogenic
Motor tics, Autistic behavior, Global developmental delay
Health Risk
RS1761282515
Likely pathogenic
Cerebellar ataxia, Intellectual disability, Autistic behavior
Health Risk
RS1761825165
Likely pathogenic
Moderate intellectual disability, Global developmental delay, Autistic behavior
Health Risk
RS2150115220
Likely pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2531615369
Likely pathogenic
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, Neurodevelopmental disorder with or without variable movement or behavioral abnormalities
Health Risk
RS1747594790
Pathogenic
Global developmental delay, Cerebellar ataxia, Mild intellectual disability
Health Risk
RS1758879579
Pathogenic
Global developmental delay, Cerebellar ataxia, Mild intellectual disability
Health Risk
RS1761282724
Pathogenic
Global developmental delay, Mild intellectual disability, Autistic behavior
Health Risk
RS1761822790
Pathogenic
Moderate intellectual disability, Global developmental delay, Autistic behavior
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1335410914 | Health Risk | Conflicting classifications of pathogenicity | KCNN2-related disorder, Dystonia 34, myoclonic |
| RS1761282406 | Health Risk | Conflicting classifications of pathogenicity | Intellectual disability, Global developmental delay, Bradykinesia |
| RS2531643404 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1758880343 | Health Risk | Likely pathogenic | Motor tics, Autistic behavior, Global developmental delay |
| RS1761282515 | Health Risk | Likely pathogenic | Cerebellar ataxia, Intellectual disability, Autistic behavior |
| RS1761825165 | Health Risk | Likely pathogenic | Moderate intellectual disability, Global developmental delay, Autistic behavior |
| RS2150115220 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2531615369 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, Neurodevelopmental disorder with or without variable movement or behavioral abnormalities |
| RS1747594790 | Health Risk | Pathogenic | Global developmental delay, Cerebellar ataxia, Mild intellectual disability |
| RS1758879579 | Health Risk | Pathogenic | Global developmental delay, Cerebellar ataxia, Mild intellectual disability |
| RS1761282724 | Health Risk | Pathogenic | Global developmental delay, Mild intellectual disability, Autistic behavior |
| RS1761822790 | Health Risk | Pathogenic | Moderate intellectual disability, Global developmental delay, Autistic behavior |
| RS2531643196 | Health Risk | Pathogenic | Neurodevelopmental disorder with or without variable movement or behavioral abnormalities, Dystonia 34, myoclonic |
| RS774833524 | Health Risk | Pathogenic | Motor tics, Severe intellectual disability, Autistic behavior |
| RS1554086554 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Global developmental delay, KCNN2-related disorder |