Gene: TCHP

Alternate names for this Gene: TpMs

Gene Summary:

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.11

Description of this Gene: trichoplein keratin filament binding

Type of Gene: protein-coding

Gene: GIT2

Alternate names for this Gene: CAT-2|CAT2|PKL

Gene Summary: This gene encodes a member of the GIT protein family, which interact with G protein-coupled receptor kinases and possess ADP-ribosylation factor (ARF) GTPase-activating protein (GAP) activity. GIT proteins traffic between cytoplasmic complexes, focal adhesions, and the cell periphery, and interact with Pak interacting exchange factor beta (PIX) to form large oligomeric complexes that transiently recruit other proteins. GIT proteins regulate cytoskeletal dynamics and participate in receptor internalization and membrane trafficking. This gene has been shown to repress lamellipodial extension and focal adhesion turnover, and is thought to regulate cell motility. This gene undergoes extensive alternative splicing to generate multiple isoforms, but the full-length nature of some of these variants has not been determined. The various isoforms have functional differences, with respect to ARF GAP activity and to G protein-coupled receptor kinase 2 binding.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.11

Description of this Gene: GIT ArfGAP 2

Type of Gene: protein-coding

rs9634314 in TCHP;GIT2 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.