KCNJ16 Chromosome 17
Potassium inwardly rectifying channel subfamily J member 16
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What This Gene Does
Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which tends to allow potassium to flow into rather than out of a cell, can form heterodimers with two other inward-rectifier type potassium channels. It may function in fluid and pH balance regulation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]
Gene Info
Gene Group
Potassium inwardly rectifying channel subfamily J
Locus Type
gene with protein product
Location
17q24.3
Ensembl
ENSG00000153822
Associated Conditions (2)
Hypokalemic tubulopathy and deafness
KCNJ16-related disorder
Key Variants
RS2074092203
Likely pathogenic
Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
Health Risk
RS368613259
Likely pathogenic
KCNJ16-related disorder, KCNJ16-related disorder
Health Risk
RS377652819
Likely pathogenic
Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
Health Risk
RS766250689
Likely pathogenic
Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
Health Risk
RS1202942323
Pathogenic
Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
Health Risk
RS1362013257
Pathogenic
Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
Health Risk
RS138520154
Pathogenic
Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
Health Risk
RS189237891
Pathogenic
Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
Health Risk
RS2144303092
Pathogenic
Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
Health Risk
RS2509887847
Pathogenic
KCNJ16-related disorder, Hypokalemic tubulopathy and deafness, KCNJ16-related disorder
Health Risk
RS372090809
Pathogenic
Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2074092203 | Health Risk | Likely pathogenic | Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness |
| RS368613259 | Health Risk | Likely pathogenic | KCNJ16-related disorder, KCNJ16-related disorder |
| RS377652819 | Health Risk | Likely pathogenic | Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness |
| RS766250689 | Health Risk | Likely pathogenic | Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness |
| RS1202942323 | Health Risk | Pathogenic | Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness |
| RS1362013257 | Health Risk | Pathogenic | Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness |
| RS138520154 | Health Risk | Pathogenic | Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness |
| RS189237891 | Health Risk | Pathogenic | Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness |
| RS2144303092 | Health Risk | Pathogenic | Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness |
| RS2509887847 | Health Risk | Pathogenic | KCNJ16-related disorder, Hypokalemic tubulopathy and deafness, KCNJ16-related disorder |
| RS372090809 | Health Risk | Pathogenic | Hypokalemic tubulopathy and deafness, Hypokalemic tubulopathy and deafness |