PDIA5
protein disulfide isomerase family A member 5
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, three catalytically active thioredoxin (TRX) domains, a TRX-like domain, and a C-terminal ER-retention sequence. The N-terminal TRX-like domain is the primary binding site for the major ER chaperone calreticulin and possibly other proteins and substrates as well. Alternative splicing results in multiple protein- and non-protein-coding transcript variants. [provided by RefSeq, Dec 2016]
Known Variants44 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2473278908 | 3:122,808,027 | T/C | — | uncertain significance |
| rs1383941343 | 3:122,808,109 | G/A | — | uncertain significance |
| rs546101783 | 3:122,811,208 | C/T | — | uncertain significance |
| rs1347309867 | 3:122,811,267 | A/G | — | uncertain significance |
| rs746947039 | 3:122,821,296 | T/C | — | uncertain significance |
| rs745820644 | 3:122,821,633 | T/C | — | uncertain significance |
| rs143955217 | 3:122,821,641 | A/G | — | uncertain significance |
| rs1220539767 | 3:122,825,597 | C/A | — | uncertain significance |
| rs2473310846 | 3:122,825,680 | A/G | — | uncertain significance |
| rs148629858 | 3:122,825,681 | G/T | — | uncertain significance |
| rs777242060 | 3:122,829,820 | G/T | — | uncertain significance |
| rs151085119 | 3:122,829,825 | C/T | — | uncertain significance |
| rs560516430 | 3:122,829,846 | C/T | — | uncertain significance |
| rs1200264780 | 3:122,829,849 | C/G | — | uncertain significance |
| rs13314114 | 3:122,836,000 | T/G | — | — |
| rs726681 | 3:122,837,648 | C/T | intron variant | — |
| rs836848 | 3:122,839,525 | G/T | intron variant | — |
| rs3792366 | 3:122,839,876 | G/T | — | — |
| rs139039156 | 3:122,842,256 | G/A | intron variant | — |
| rs149160539 | 3:122,842,988 | A/G | — | uncertain significance |
| rs143145744 | 3:122,842,994 | T/A | — | uncertain significance |
| rs3792378 | 3:122,845,077 | G/A | intron variant | — |
| rs920900 | 3:122,845,671 | C/G | intron variant | — |
| rs564573458 | 3:122,849,352 | C/T | — | uncertain significance |
| rs750390528 | 3:122,849,379 | G/A | — | uncertain significance |
| rs145568670 | 3:122,849,400 | G/A | — | uncertain significance |
| rs2589602 | 3:122,851,261 | T/C | intron variant | — |
| rs3804753 | 3:122,851,840 | A/G | intron variant | — |
| rs28578782 | 3:122,852,835 | C/T | intron variant | — |
| rs1935765899 | 3:122,864,964 | G/C | — | uncertain significance |
| rs2473379032 | 3:122,864,967 | G/C | — | uncertain significance |
| rs376677056 | 3:122,865,104 | A/T | — | uncertain significance |
| rs768135631 | 3:122,869,095 | C/T | — | uncertain significance |
| rs766659997 | 3:122,869,100 | C/A | — | uncertain significance |
| rs778076774 | 3:122,869,197 | T/C | — | uncertain significance |
| rs150216334 | 3:122,873,827 | A/T | — | uncertain significance |
| rs200091807 | 3:122,873,845 | C/T | — | uncertain significance |
| rs773165791 | 3:122,873,848 | A/G | — | uncertain significance |
| rs2472408584 | 3:122,873,853 | A/G | — | uncertain significance |
| rs368837820 | 3:122,880,168 | A/G | — | uncertain significance |
| rs143043425 | 3:122,880,276 | G/T | — | uncertain significance |
| rs764429278 | 3:122,880,297 | C/T | — | uncertain significance |
| rs2472415446 | 3:122,880,763 | G/A | — | uncertain significance |
| rs1173389869 | 3:122,880,785 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.