AGR3
anterior gradient 3, 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 gene is expressed in ciliated airway epithelial cells and, in mouse, plays a role in ciliary beat frequency in multiciliated cells. This gene is also over-expressed in breast, ovarian, and prostrate cancers. [provided by RefSeq, Dec 2016]
Known Variants9 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs201656343 | 7:16,899,222 | A/G | — | uncertain significance |
| rs994746508 | 7:16,900,138 | C/T | — | likely benign |
| rs754342277 | 7:16,900,154 | A/T | — | uncertain significance |
| rs776650622 | 7:16,901,017 | T/C | — | uncertain significance |
| rs1340365833 | 7:16,901,041 | C/G | — | uncertain significance |
| rs1781932198 | 7:16,913,443 | A/C | — | uncertain significance |
| rs558248875 | 7:16,918,214 | C/T | — | uncertain significance |
| rs541627351 | 7:16,918,220 | C/T | — | uncertain significance |
| rs2534769922 | 7:16,918,226 | G/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.