rs9365723
This variant is located in the SYNJ2 gene.
▶Research that mentions this SNP (1)
▶Association of polymorphisms in LOC105377871 and CASC16 with breast cancer in the northwest Chinese Han populationAssociationN=1,006Yao Sun et al.(2020)· The Journal of Gene Medicine
A case-control study of 503 breast cancer patients and 503 healthy controls in northwest Chinese Han population found that rs17530068 (LOC105377871) increases breast cancer risk (p=0.047, OR=1.23, 95% CI=1.00-1.50 in log-additive model), and rs4784227 (CASC16) significantly increases risk of lymph node metastasis in breast cancer patients (p=0.025, OR=1.51, 95% CI=1.05-2.17 for allele model; p=0.008, OR=1.99, 95% CI=1.20-3.31 in codominant model).
About SYNJ2
The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
View all SYNJ2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…