rs868036

This is a intron variant variant in the MAP2K5 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

restless legs syndrome

Schormair B et al. “Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction.” Nature Genetics 56(6):1090-1099 (2024)
Allele A
OR 0.17
p 9.0e-288
N 1,663,113
Large GWAS
European
Didriksen M et al. “Large genome-wide association study identifies three novel risk variants for restless legs syndrome.” Communications Biology 3(1):703 (2020)
Allele A
OR 0.81
p 2.0e-74
N 480,982
Large GWAS
European
Schormair B et al. “Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis.” The Lancet. Neurology 16(11):898-907 (2017)
Allele A
OR 1.19
p 5.0e-69
N 110,851
Meta-analysisLarge GWAS
European

About MAP2K5

The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically interacts with and activates MAPK7/ERK5. This kinase itself can be phosphorylated and activated by MAP3K3/MEKK3, as well as by atypical protein kinase C isoforms (aPKCs). The signal cascade mediated by this kinase is involved in growth factor stimulated cell proliferation and muscle cell differentiation. Three alternatively spliced transcript variants of this gene encoding distinct isoforms have been described. [provided by RefSeq, May 2011]

View all MAP2K5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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