WNK3 Chromosome X
WNK lysine deficient protein kinase 3
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What This Gene Does
This gene encodes a protein belonging to the 'with no lysine' family of serine-threonine protein kinases. These family members lack the catalytic lysine in subdomain II, and instead have a conserved lysine in subdomain I. This family member functions as a positive regulator of the transcellular Ca2+ transport pathway, and it plays a role in the increase of cell survival in a caspase-3-dependent pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Gene Info
Gene Group
WNK lysine deficient protein kinases
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000196632
Associated Conditions (4)
9 conditions
Neurodevelopmental disorder
Prieto syndrome
Nonpapillary renal cell carcinoma
Key Variants
RS149043219
Conflicting classifications of pathogenicity
Health Risk
RS200621254
Conflicting classifications of pathogenicity
Health Risk
RS201840392
Conflicting classifications of pathogenicity
Health Risk
RS2520325920
Likely pathogenic
9 conditions, 9 conditions
Health Risk
RS2521649714
Pathogenic
Neurodevelopmental disorder, Neurodevelopmental disorder
Health Risk
RS2521900262
Pathogenic
Neurodevelopmental disorder, Prieto syndrome, Neurodevelopmental disorder
Health Risk
RS2521919750
Pathogenic
Neurodevelopmental disorder, Prieto syndrome, Neurodevelopmental disorder
Health Risk
RS2521921552
Pathogenic
Neurodevelopmental disorder, Prieto syndrome, Neurodevelopmental disorder
Health Risk
RS2521949809
Pathogenic
Neurodevelopmental disorder, Prieto syndrome, Neurodevelopmental disorder
Health Risk
RS2521950956
Pathogenic
Neurodevelopmental disorder, Nonpapillary renal cell carcinoma, Neurodevelopmental disorder
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149043219 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200621254 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS201840392 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2520325920 | Health Risk | Likely pathogenic | 9 conditions, 9 conditions |
| RS2521649714 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2521900262 | Health Risk | Pathogenic | Neurodevelopmental disorder, Prieto syndrome, Neurodevelopmental disorder |
| RS2521919750 | Health Risk | Pathogenic | Neurodevelopmental disorder, Prieto syndrome, Neurodevelopmental disorder |
| RS2521921552 | Health Risk | Pathogenic | Neurodevelopmental disorder, Prieto syndrome, Neurodevelopmental disorder |
| RS2521949809 | Health Risk | Pathogenic | Neurodevelopmental disorder, Prieto syndrome, Neurodevelopmental disorder |
| RS2521950956 | Health Risk | Pathogenic | Neurodevelopmental disorder, Nonpapillary renal cell carcinoma, Neurodevelopmental disorder |