Gene: SYNJ2

Alternate names for this Gene: INPP5H

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.3

Description of this Gene: synaptojanin 2

Type of Gene: protein-coding

rs1750034 in SYNJ2 gene and Endometriosis PMID 28881265 2017 New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study.

rs141160611 in SYNJ2 gene and Serum gamma-glutamyl transferase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2181190 in SYNJ2 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.