rs13908
This is a protein-altering variant in the FOLR2 gene.
▶Research that mentions this SNP (1)
▶Association of folate receptor (folr1, folr2, folr3) and reduced folate carrier (slc19a1) genes with meningomyeloceleAssociationN=610Michelle R. O'Byrne et al.(2010)· Birth Defects Research Part A: Clinical and Molecular Teratology
A family-based association study of 610 meningomyelocele cases (329 trios and 281 duos) across folate transport genes identified 10 SNPs associated with neural tube defects. Key findings include rs13908 in FOLR2 (p=0.0002, OR=0.14), three linked variants in FOLR3 (rs7925545, rs7926875, rs7926987), and two in SLC19A1 (rs1888530, p=7.28E-05, OR=0.26; rs3788200, p=0.0195, OR=0.62), suggesting rare alleles confer protection against meningomyelocele risk.
About FOLR2
The protein encoded by this gene is a member of the folate receptor (FOLR) family, and these genes exist in a cluster on chromosome 11. Members of this gene family have a high affinity for folic acid and for several reduced folic acid derivatives, and they mediate delivery of 5-methyltetrahydrofolate to the interior of cells. This protein has a 68% and 79% sequence homology with the FOLR1 and FOLR3 proteins, respectively. Although this protein was originally thought to be specific to placenta, it can also exist in other tissues, and it may play a role in the transport of methotrexate in synovial macrophages in rheumatoid arthritis patients. Multiple transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
View all FOLR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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