ERP44
endoplasmic reticulum protein 44
Summary
This gene encodes a member of the protein disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins. It has an inferred N-terminal signal peptide, a catalytically active thioredoxin (TRX) domain, two TRX-like domains and a C-terminal ER-retention sequence. This protein functions as a pH-regulated chaperone of the secretory pathway and likely plays a role in protein quality control at the endoplasmic reticulum - Golgi interface. [provided by RefSeq, Dec 2016]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs746106972 | 9:102,744,907 | C/T | — | uncertain significance |
| rs749903237 | 9:102,744,973 | C/T | — | uncertain significance |
| rs756017887 | 9:102,747,314 | G/A | — | uncertain significance |
| rs758487484 | 9:102,747,326 | C/T | — | uncertain significance |
| rs571714195 | 9:102,761,469 | C/A | — | — |
| rs749834343 | 9:102,768,917 | A/C | — | uncertain significance |
| rs754095141 | 9:102,769,871 | A/T | — | uncertain significance |
| rs151032851 | 9:102,778,676 | A/C | missense variant | — |
| rs768583772 | 9:102,780,594 | C/G | — | uncertain significance |
| rs4742779 | 9:102,781,837 | A/C | intron variant | — |
| rs756976665 | 9:102,782,905 | C/A | — | uncertain significance |
| rs768073902 | 9:102,782,997 | A/G | — | uncertain significance |
| rs375903014 | 9:102,783,006 | T/C | — | uncertain significance |
| rs368684865 | 9:102,784,334 | G/A | — | uncertain significance |
| rs1830596479 | 9:102,784,369 | G/T | — | uncertain significance |
| rs372324885 | 9:102,784,463 | T/C | — | uncertain significance |
| rs1830598905 | 9:102,784,481 | C/T | — | uncertain significance |
| rs7028939 | 9:102,808,685 | A/G | intron variant | — |
| rs746130139 | 9:102,814,737 | T/C | — | uncertain significance |
| rs4743382 | 9:102,817,841 | C/T | intron variant | — |
| rs143034960 | 9:102,820,138 | T/C | — | uncertain significance |
| rs138512849 | 9:102,822,438 | G/A | — | uncertain significance |
| rs748112039 | 9:102,861,089 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.