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Results, combined with previous studies, suggest that rs9365723, located on SYNJ2, is associated with the risk of CRC in a Chinese population.
Synaptojanin 2 is a druggable mediator of metastasis and the gene is overexpressed and amplified in breast cancer.
The genetic interactions associated with ILVatrophy rate in this study may be mapping variants inSYNJ2andPI4KAthat interact to decrease synthesisof PIP.
Src-mediated phosphorylation of SYNJ2 contributes to invadopodia formation.
SYNJ2 is a novel gene in which variation is potentially associated with cognitive abilities.
Single nucleotide polymorphisms in SYNJ2 are associated with personality disorders.
SYNJ2 is a target gene of the BACH1 transcription factor according to ChIP-seq analysis in HEK 293 cells.
Since Syn 2 is a phosphatidylinositol 4,5-biphosphatase involved in cell growth and rearrangement of actin filaments, the increased Syn 2 expression may correlate with the hairy cell leukemia etiology or the characteristic morphologic alterations.
contributes to the role of Rac1 in cell invasion and migration by regulating the formation of invadopodia and lamellipodia
Identification of inactivating mutations in the JAK1, SYNJ2, and CLPTM1 genes in prostate cancer cells
report showing expression, location and isoforms of Synj1 and Synj2 in the small and large intestine and that they might participate in intestinal pathology.
Clustering all known mouse Synj2 transcripts led to uncover a novel subset of transcripts that appears to derive from a region located within intron 7.
These results reveal Synj2 as a critical regulator of hair cell survival that is essential for hair cell maintenance and hearing function.
role in proximal t-haplotype mediated mouse sterility
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.
, inositol phosphate 5'-phosphatase 2
, synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2
, synaptic inositol-1,4,5-trisphosphate 5-phosphatase 2