rs1705236
This is a intron variant variant in the TSPAN8 gene.
▶Research that mentions this SNP (1)
▶Functional variants of TSPAN8 are associated with bipolar disorder and schizophreniaAssociationClaus‐Jürgen Scholz et al.(2010)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
This case-control study examined 13 tagging SNPs and two non-synonymous SNPs in TSPAN8 for association with bipolar disorder and schizophrenia. rs4500567 in the upstream transcriptional control region was associated with bipolar disorder surviving Bonferroni correction, while rs3763978 (non-synonymous) was associated with schizophrenia also surviving correction. The findings suggest TSPAN8 contributes to both disorders through distinct mechanisms—regulatory for bipolar disorder and structural for schizophrenia.
About TSPAN8
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein that is known to complex with integrins. This gene is expressed in different carcinomas. The use of alternate polyadenylation sites has been found for this gene. [provided by RefSeq, Jul 2008]
View all TSPAN8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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