KCNN4 Chromosome 19
Potassium calcium-activated channel subfamily N member 4
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What This Gene Does
The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium calcium-activated channels
Locus Type
gene with protein product
Location
19q13.31
Ensembl
ENSG00000104783
Associated Conditions (5)
Inborn genetic diseases
Dehydrated hereditary stomatocytosis 2
KCNN4-related disorder
Primary ciliary dyskinesia 5
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
Key Variants
RS199835479
Conflicting classifications of pathogenicity
Inborn genetic diseases, Dehydrated hereditary stomatocytosis 2, Inborn genetic diseases
Health Risk
RS201220075
Conflicting classifications of pathogenicity
Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2
Health Risk
RS201622697
Conflicting classifications of pathogenicity
Dehydrated hereditary stomatocytosis 2, Inborn genetic diseases, Dehydrated hereditary stomatocytosis 2
Health Risk
RS201687359
Conflicting classifications of pathogenicity
Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2
Health Risk
RS557803591
Conflicting classifications of pathogenicity
KCNN4-related disorder, Inborn genetic diseases, KCNN4-related disorder
Health Risk
RS76935412
Conflicting classifications of pathogenicity
KCNN4-related disorder, Dehydrated hereditary stomatocytosis 2, Primary ciliary dyskinesia 5
Health Risk
RS1057519076
Likely pathogenic
Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2
Health Risk
RS1057519077
Likely pathogenic
Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2
Health Risk
RS1969582489
Pathogenic
Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
Health Risk
RS774455945
Pathogenic
Dehydrated hereditary stomatocytosis 2, Inborn genetic diseases, Dehydrated hereditary stomatocytosis 2
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199835479 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Dehydrated hereditary stomatocytosis 2, Inborn genetic diseases |
| RS201220075 | Health Risk | Conflicting classifications of pathogenicity | Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2 |
| RS201622697 | Health Risk | Conflicting classifications of pathogenicity | Dehydrated hereditary stomatocytosis 2, Inborn genetic diseases, Dehydrated hereditary stomatocytosis 2 |
| RS201687359 | Health Risk | Conflicting classifications of pathogenicity | Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2 |
| RS557803591 | Health Risk | Conflicting classifications of pathogenicity | KCNN4-related disorder, Inborn genetic diseases, KCNN4-related disorder |
| RS76935412 | Health Risk | Conflicting classifications of pathogenicity | KCNN4-related disorder, Dehydrated hereditary stomatocytosis 2, Primary ciliary dyskinesia 5 |
| RS1057519076 | Health Risk | Likely pathogenic | Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2 |
| RS1057519077 | Health Risk | Likely pathogenic | Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2 |
| RS1969582489 | Health Risk | Pathogenic | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema |
| RS774455945 | Health Risk | Pathogenic | Dehydrated hereditary stomatocytosis 2, Inborn genetic diseases, Dehydrated hereditary stomatocytosis 2 |