WNK3
Homo sapiens
Gene Name: WNK lysine deficient protein kinase 3
Aliases: PRKWNK3; FLJ30437; FLJ42662; KIAA1566; WNK3
Chromosome No: X
Chromosome Band: Xp11.22
Genetic Category: Rare Single Gene variant
Aliases: PRKWNK3; FLJ30437; FLJ42662; KIAA1566; WNK3
Chromosome No: X
Chromosome Band: Xp11.22
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 3
Annotated variants: 3
Associated CNVs: 8
Evidence score: 2
ASD Reports: 7
Recent Reports: 3
Annotated variants: 3
Associated CNVs: 8
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Studies have found rare mutations in the WNK3 gene that are associated with autism (Piton et al., 2011; Qiao et al., 2008).
Molecular Function
The encoed protein belongs to the family of serine-threonine kinases that functions as modulator of diverse ion transport pathways.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.
ASD
SCZ
Highly Cited
WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability.
Recent Recommendation
Cell-type specific distribution of chloride transporters in the rat suprachiasmatic nucleus.
Recent Recommendation
Regulation of NKCC2 by a chloride-sensing mechanism involving the WNK3 and SPAK kinases.
