STK39
Homo sapiens
Gene Name: serine threonine kinase 39 (STE20/SPS1 homolog, yeast)
Aliases: DCHT; PASK; SPAK; DKFZp686K05124
Chromosome No: 2
Chromosome Band: 2q24.3
Genetic Category: Genetic Association
Aliases: DCHT; PASK; SPAK; DKFZp686K05124
Chromosome No: 2
Chromosome Band: 2q24.3
Genetic Category: Genetic Association
Summary Statistics:
ASD Reports: 5
Recent Reports: 3
Annotated variants: 3
Associated CNVs: 7
Evidence score: null
ASD Reports: 5
Recent Reports: 3
Annotated variants: 3
Associated CNVs: 7
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
Genetic association has been found between the STK39 gene and autism in a study that combined several cohorts (Ramoz et al., 2008).
Molecular Function
This gene encodes a serine/threonine kinase implicated in the cellular stress re sponse pathway
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene.
ASD
Highly Cited
Cation chloride cotransporters interact with the stress-related kinases Ste20-related proline-alanine-rich kinase (SPAK) and oxidative stress respo...
Recent Recommendation
From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene.
Recent Recommendation
The regulation of salt transport and blood pressure by the WNK-SPAK/OSR1 signalling pathway.
Recent Recommendation
Activation of the thiazide-sensitive Na+Cl- cotransporter by the WNK-regulated kinases SPAK and OSR1.
Rare
No Rare Variants Available
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN241C002
intron_variant
rs1517342
c.628+2624A>G;c.136+2624A>G
A allele
Multiple cohorts
Discovery
GEN241C003
downstream_gene_variant
rs971257
c.-351-36546A>T;c.-352+32464A>T
Multiple cohorts
Discovery
