Gene: CSGALNACT2

Alternate names for this Gene: CHGN2|ChGn-2|GALNACT-2|GALNACT2|PRO0082|beta4GalNAcT

Gene Summary: This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X.

Gene is located in Chromosome: 10

Location in Chromosome : 10q11.21

Description of this Gene: chondroitin sulfate N-acetylgalactosaminyltransferase 2

Type of Gene: protein-coding

rs2435349 in CSGALNACT2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2505506 in CSGALNACT2 gene and Hirschsprung Disease PMID 19196962 2009 Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

rs3004212 in CSGALNACT2 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.