rs7205289
This is a coding sequence variant variant in the WWP2 gene.
▶Research that mentions this SNP (1)
▶Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palateAssociationN=550Beaty TH et al.(2011)· Genetic Epidemiology
GWAS of 550 case-parent trios with non-syndromic cleft palate identified genome-wide significant gene-environment interactions with maternal exposures. MLLT3 and SMC2 on chromosome 9 showed multiple SNPs associated with increased CP risk when mothers consumed alcohol periconceptually (MLLT3 rs4621895 p=1.9×10⁻⁷, SMC2 rs1536895 p=1.53×10⁻⁸). TBK1 and ZNF236 showed interaction with maternal smoking (TBK1 rs7969932 p=7.86×10⁻⁸, ZNF236 rs372075 p=6.75×10⁻⁸), while BAALC SNPs showed protective effects with multivitamin supplementation.
About WWP2
This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]
View all WWP2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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