KCNC2 Chromosome 12
Potassium voltage-gated channel subfamily C member 2
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What This Gene Does
The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Gene Info
Gene Group
"Potassium voltage-gated channels|BTB domain containing"
Locus Type
gene with protein product
Location
12q21.1
Ensembl
ENSG00000166006
Associated Conditions (3)
Developmental and epileptic encephalopathy 103
Neurodevelopmental delay
Developmental and epileptic encephalopathy
Key Variants
RS1881066861
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
RS1260222970
Likely pathogenic
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
RS1881066035
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
RS2136944093
Likely pathogenic
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS2548168192
Likely pathogenic
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
RS2136943353
Pathogenic
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
RS2136943757
Pathogenic
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
RS2136944684
Pathogenic
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
RS2137827783
Pathogenic
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
RS2137828445
Pathogenic
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
RS2547844200
Pathogenic
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
RS61735712
Pathogenic
Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1881066861 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |
| RS1260222970 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |
| RS1881066035 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2136944093 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2548168192 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |
| RS2136943353 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |
| RS2136943757 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |
| RS2136944684 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |
| RS2137827783 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |
| RS2137828445 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |
| RS2547844200 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |
| RS61735712 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 103, Developmental and epileptic encephalopathy 103 |