Gene: GNGT2

Alternate names for this Gene: G-GAMMA-8|G-GAMMA-C|GNG8|GNG9|GNGT8

Gene Summary: Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.32

Description of this Gene: G protein subunit gamma transducin 2

Type of Gene: protein-coding

Gene: ABI3

Alternate names for this Gene: NESH|SSH3BP3

Gene Summary: This gene encodes a member of an adaptor protein family. Members of this family encode proteins containing a homeobox homology domain, proline rich region and Src-homology 3 (SH3) domain, and are components of the Abi/WAVE complex which regulates actin polymerization. The encoded protein inhibits ectopic metastasis of tumor cells as well as cell migration. This may be accomplished through interaction with p21-activated kinase. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.32

Description of this Gene: ABI family member 3

Type of Gene: protein-coding

rs850526 in GNGT2;ABI3 gene and Cholangitis, Sclerosing PMID 27992413 2017 Genome-wide association study of primary sclerosing cholangitis identifies new risk loci and quantifies the genetic relationship with inflammatory bowel disease.