Gene: AGR2

Alternate names for this Gene: AG-2|AG2|GOB-4|HAG-2|HEL-S-116|HPC8|PDIA17|XAG-2

Gene Summary: This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, and a C-terminal ER-retention sequence. This protein plays a role in cell migration, cellular transformation and metastasis and is as a p53 inhibitor. As an ER-localized molecular chaperone, it plays a role in the folding, trafficking, and assembly of cysteine-rich transmembrane receptors and the cysteine-rich intestinal gylcoprotein mucin. This gene has been implicated in inflammatory bowel disease and cancer progression.

Gene is located in Chromosome: 7

Location in Chromosome : 7p21.1

Description of this Gene: anterior gradient 2, protein disulphide isomerase family member

Type of Gene: protein-coding

rs10224320 in AGR2 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1149530 in AGR2 gene and Processing speed PMID 29907492 2018 Polygenic risk score, genome-wide association, and gene set analyses of cognitive domain deficits in schizophrenia.