AGR2 Chromosome 7
Anterior gradient 2, protein disulphide isomerase family member
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What This Gene Does
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. [provided by RefSeq, Mar 2017]
Gene Info
Gene Group
Protein disulfide isomerases
Locus Type
gene with protein product
Location
7p21.1
Ensembl
ENSG00000106541
Associated Conditions (4)
Respiratory infections
recurrent
and failure to thrive with or without diarrhea
AGR2-related disorder
Key Variants
RS2534653268
Likely pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
Health Risk
RS753915618
Likely pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
Health Risk
RS780638101
Likely pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
Health Risk
RS1483660993
Pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
Health Risk
RS923936131
Pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2534653268 | Health Risk | Likely pathogenic | Respiratory infections, recurrent, and failure to thrive with or without diarrhea |
| RS753915618 | Health Risk | Likely pathogenic | Respiratory infections, recurrent, and failure to thrive with or without diarrhea |
| RS780638101 | Health Risk | Likely pathogenic | Respiratory infections, recurrent, and failure to thrive with or without diarrhea |
| RS1483660993 | Health Risk | Pathogenic | Respiratory infections, recurrent, and failure to thrive with or without diarrhea |
| RS923936131 | Health Risk | Pathogenic | Respiratory infections, recurrent, and failure to thrive with or without diarrhea |