HELP     Sign In
Search

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
Autism-associated familial microdeletion of Xp11.22.
ASD
ID
Highly Cited
WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability.
Recent Recommendation
Benign hyperphosphatasemia.
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
 GEN264R001 
 copy_number_loss 
  
  
 Familial 
 Maternal 
 Multiplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion-Duplication
 24
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Duplication
 1
 
X
Deletion
 1
 
X
Deletion
 4
 
X
Deletion
 1
 
X
Deletion-Duplication
 18
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP
Ascano M Jr , et al. 2012
KLHL2 kelch-like family member 2 11275 O95198 IP; LC-MS/MS
Huttlin EL , et al. 2015
TSC22D4 TSC22 domain family, member 4 81628 Q9Y3Q8 IP; LC-MS/MS
Huttlin EL , et al. 2015
UBC ubiquitin C 7316 P63279 LC-MS/MS
Danielsen JM , et al. 2010

HELP
Copyright © 2017 MindSpec, Inc.