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: 9
Recent Reports: 3
Annotated variants: 5
Associated CNVs: 8
Evidence score: 2
ASD Reports: 9
Recent Reports: 3
Annotated variants: 5
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
Support
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study
ASD
ADHD
Support
The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort
ASD
Support
The genetic landscape of autism spectrum disorder in the Middle Eastern population
ASD
Epilepsy/seizures
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.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN264R004
missense_variant
c.236A>G
p.Glu79Gly
Familial
Maternal
Multiplex
GEN264R005
missense_variant
c.2608C>T
p.Arg870Trp
Familial
Maternal
Simplex
Common
No Common Variants Available
