PDILT
protein disulfide isomerase like, testis expressed
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 has an N-terminal ER-signal sequence, two thioredoxin (TRX) domains with non-classical Ser-Lys-Gln-Ser and Ser-Lys-Lys-Cys motifs, respectively, two TRX-like domains, and a C-terminal ER-retention sequence. The protein lacks oxidoreductase activity in vitro and probably functions as a chaperone. This gene's expression appears to be limited to the testis. [provided by RefSeq, Dec 2016]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs534981803 | 16:20,370,678 | A/C | — | uncertain significance |
| rs1422972169 | 16:20,370,682 | G/A | — | uncertain significance |
| rs1966063593 | 16:20,370,685 | G/A | — | uncertain significance |
| rs2507414658 | 16:20,370,696 | T/A | — | uncertain significance |
| rs2507414766 | 16:20,370,735 | T/C | — | uncertain significance |
| rs535617333 | 16:20,370,744 | G/A | — | uncertain significance |
| rs767601860 | 16:20,370,773 | C/A | — | uncertain significance |
| rs141680096 | 16:20,370,792 | G/A | — | likely benign |
| rs779517495 | 16:20,370,799 | G/C | — | uncertain significance |
| rs9929792 | 16:20,371,075 | A/T | upstream gene variant | — |
| rs4494548 | 16:20,371,588 | G/A | regulatory region variant | — |
| rs766815599 | 16:20,371,906 | A/G | — | uncertain significance |
| rs201187995 | 16:20,373,737 | C/T | — | uncertain significance |
| rs944950477 | 16:20,373,750 | C/G | — | uncertain significance |
| rs189278427 | 16:20,373,826 | G/A | — | uncertain significance |
| rs1376073818 | 16:20,373,863 | A/T | — | uncertain significance |
| rs367692063 | 16:20,373,877 | A/T | — | uncertain significance |
| rs9931967 | 16:20,375,351 | T/C | — | — |
| rs117774819 | 16:20,375,571 | T/G | regulatory region variant | — |
| rs759174666 | 16:20,376,760 | C/T | — | uncertain significance |
| rs747250817 | 16:20,376,784 | C/T | — | likely benign |
| rs1157972265 | 16:20,376,799 | C/T | — | uncertain significance |
| rs763966787 | 16:20,376,829 | A/G | — | uncertain significance |
| rs1966178202 | 16:20,376,856 | G/C | — | uncertain significance |
| rs151053059 | 16:20,380,839 | C/T | — | uncertain significance |
| rs191618493 | 16:20,380,840 | G/A | — | uncertain significance |
| rs375690596 | 16:20,380,887 | T/C | — | uncertain significance |
| rs1394406717 | 16:20,380,918 | T/G | — | uncertain significance |
| rs141486859 | 16:20,380,961 | G/C | — | likely benign |
| rs193085306 | 16:20,384,188 | C/T | — | uncertain significance |
| rs369490121 | 16:20,384,386 | T/C | — | uncertain significance |
| rs144790154 | 16:20,384,429 | G/A | — | uncertain significance |
| rs35449439 | 16:20,385,182 | G/C | intron variant | — |
| rs765339152 | 16:20,386,161 | C/T | — | likely benign |
| rs780432251 | 16:20,386,167 | C/T | — | uncertain significance |
| rs751918734 | 16:20,386,170 | G/A | — | uncertain significance |
| rs140957479 | 16:20,386,176 | C/T | — | uncertain significance |
| rs2507442596 | 16:20,386,179 | G/A | — | uncertain significance |
| rs369365786 | 16:20,386,184 | C/T | — | uncertain significance |
| rs144890989 | 16:20,386,185 | G/C | — | uncertain significance |
| rs1424272841 | 16:20,386,220 | G/A | — | uncertain significance |
| rs143170020 | 16:20,387,497 | C/T | — | uncertain significance |
| rs1199014357 | 16:20,387,512 | A/G | — | uncertain significance |
| rs200629155 | 16:20,387,517 | A/T | — | uncertain significance |
| rs142371841 | 16:20,388,023 | C/G | intron variant | — |
| rs113204627 | 16:20,390,452 | C/T | intron variant | — |
| rs112709995 | 16:20,390,734 | C/T | intron variant | — |
| rs568779784 | 16:20,390,753 | G/A | — | — |
| rs35747824 | 16:20,393,308 | A/T | upstream gene variant | — |
| rs140161685 | 16:20,395,978 | A/C | — | uncertain significance |
| rs201976699 | 16:20,396,020 | G/A | — | uncertain significance |
| rs375479299 | 16:20,396,087 | C/T | — | uncertain significance |
| rs143343359 | 16:20,396,140 | G/T | — | uncertain significance |
| rs1447640390 | 16:20,396,170 | T/C | — | uncertain significance |
| rs11864909 | 16:20,400,839 | C/T | intron variant | — |
| rs75126936 | 16:20,403,818 | C/A | downstream gene variant | — |
| rs139714151 | 16:20,404,321 | T/C | downstream gene variant | — |
| rs12446492 | 16:20,408,377 | T/A | intron variant | — |
| rs772997693 | 16:20,410,441 | C/T | — | uncertain significance |
| rs948073662 | 16:20,410,448 | G/T | — | uncertain significance |
| rs1328943472 | 16:20,410,507 | A/G | — | uncertain significance |
| rs748752461 | 16:20,410,522 | G/A | — | uncertain significance |
| rs146338781 | 16:20,410,531 | A/C | — | uncertain significance |
| rs201282101 | 16:20,410,586 | C/T | — | uncertain significance |
| rs7192797 | 16:20,411,763 | G/A | intron variant | — |
| rs9635489 | 16:20,417,134 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.