rs1026732
This is a intron variant variant in the MAP2K5 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
restless legs syndrome
▶Research that mentions this SNP (1)
▶Prevalence and determinants of periodic limb movements in the general populationAssociationN=2,162José Haba‐Rubio et al.(2016)· Annals of Neurology
Population-based study of 2162 European adults assessing prevalence and genetic determinants of periodic limb movements during sleep (PLMS). PLMS with index >15/h was present in 28.6% of the population. Genome-wide association study and candidate gene analysis identified SNP rs3923809 in BTBD9 as showing genome-wide significant association (p=9.10e-10), with AA homozygotes showing almost threefold higher PLMS index than non-carriers. Additional significant associations found with rs3104788 (TOX3, p=1.98e-05) and rs2300478 (MEIS1, p=0.0452). In multivariate analysis, age, male gender, antidepressant use, RLS, and these three SNP variants were independent predictors of PLMSI >15/h.
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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