Gene: ITSN2

Alternate names for this Gene: PRO2015|SH3D1B|SH3P18|SWA|SWAP

Gene Summary: This gene encodes a cytoplasmic protein which contains SH3 domains. This protein is a member of a family of proteins involved in clathrin-mediated endocytosis. Intersectin 2 is thought to regulate the formation of clathrin-coated vesicles and also may function in the induction of T cell antigen receptor (TCR) endocytosis.

Gene is located in Chromosome: 2

Location in Chromosome : 2p23.3

Description of this Gene: intersectin 2

Type of Gene: protein-coding

rs75009721 in ITSN2 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs4268898 in ITSN2 gene and Asthma PMID 29273806 2018 Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.

rs112679361 in ITSN2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.