AGR2
anterior gradient 2, protein disulphide isomerase family member
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. [provided by RefSeq, Mar 2017]
Known Variants18 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1169603250 | 7:16,834,596 | G/T | — | uncertain significance |
| rs923936131 | 7:16,834,610 | C/T | — | pathogenic |
| rs2534641576 | 7:16,834,635 | G/C | — | uncertain significance |
| rs758483087 | 7:16,834,641 | G/T | — | uncertain significance |
| rs1354569215 | 7:16,837,291 | G/T | — | uncertain significance |
| rs780638101 | 7:16,837,300 | G/A | — | likely pathogenic |
| rs2534646945 | 7:16,837,317 | T/C | — | uncertain significance |
| rs2534646960 | 7:16,837,319 | C/T | — | uncertain significance |
| rs2280655 | 7:16,837,454 | C/T | intron variant | — |
| rs1483660993 | 7:16,839,367 | C/A | — | pathogenic |
| rs372209181 | 7:16,839,430 | C/T | — | uncertain significance |
| rs753915618 | 7:16,840,773 | A/G | — | likely pathogenic |
| rs765754455 | 7:16,840,788 | G/C | — | uncertain significance |
| rs2534653268 | 7:16,840,820 | G/T | — | likely pathogenic |
| rs372556930 | 7:16,841,311 | C/T | — | likely benign |
| rs1315502892 | 7:16,841,327 | C/G | — | uncertain significance |
| rs2534654457 | 7:16,841,359 | C/A | — | uncertain significance |
| rs1437300937 | 7:16,841,387 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.