TMX2
thioredoxin related transmembrane protein 2
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, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2495045390 | 11:57,480,101 | T/C | — | uncertain significance |
| rs1946681289 | 11:57,480,155 | C/T | — | uncertain significance |
| rs142276071 | 11:57,480,167 | A/G | — | likely benign |
| rs375172173 | 11:57,480,169 | C/T | — | uncertain significance |
| rs1946683473 | 11:57,480,185 | T/G | — | uncertain significance |
| rs2495047614 | 11:57,480,197 | T/C | — | uncertain significance |
| rs35186072 | 11:57,480,204 | C/T | — | benign |
| rs550666292 | 11:57,480,218 | C/T | — | uncertain significance |
| rs111605325 | 11:57,480,232 | G/C | — | likely benign |
| rs145634348 | 11:57,480,247 | C/T | — | pathogenic |
| rs1398376742 | 11:57,480,254 | A/C | — | pathogenic |
| rs367990143 | 11:57,480,256 | G/C | — | pathogenic |
| rs143908831 | 11:57,480,270 | C/G | — | uncertain significance |
| rs7129727 | 11:57,484,660 | G/T | — | — |
| rs12785533 | 11:57,486,651 | G/A | upstream gene variant | — |
| rs575165387 | 11:57,490,513 | G/A | — | — |
| rs2911727 | 11:57,491,372 | T/G | — | — |
| rs518804 | 11:57,494,487 | A/C | intron variant | — |
| rs12790196 | 11:57,497,847 | C/T | intron variant | — |
| rs7105506 | 11:57,497,980 | G/A | intron variant | — |
| rs921041995 | 11:57,505,077 | C/A | — | uncertain significance |
| rs1471955109 | 11:57,505,088 | G/A | — | likely benign |
| rs1948830397 | 11:57,505,108 | G/A | — | uncertain significance |
| rs750470937 | 11:57,505,460 | A/G | — | no classification for the single variant |
| rs553831131 | 11:57,505,466 | G/C | — | uncertain significance |
| rs184258365 | 11:57,505,468 | A/G | — | uncertain significance |
| rs2495427884 | 11:57,505,836 | G/A | — | uncertain significance |
| rs748572364 | 11:57,506,137 | A/T | — | uncertain significance |
| rs960444778 | 11:57,506,148 | C/T | — | conflicting classifications of pathogenicity |
| rs757644895 | 11:57,506,151 | G/T | — | uncertain significance |
| rs1487850688 | 11:57,506,160 | G/T | — | uncertain significance |
| rs2495433824 | 11:57,506,201 | C/T | — | likely benign |
| rs975349263 | 11:57,506,226 | G/A | — | uncertain significance |
| rs749970754 | 11:57,506,252 | G/A | — | likely benign |
| rs2495437798 | 11:57,506,460 | G/C | — | uncertain significance |
| rs377715702 | 11:57,506,510 | C/T | — | likely pathogenic |
| rs370455806 | 11:57,506,511 | G/A | — | conflicting classifications of pathogenicity |
| rs138945359 | 11:57,506,622 | C/T | — | uncertain significance |
| rs759161110 | 11:57,506,679 | C/T | — | no classification for the single variant |
| rs1225539217 | 11:57,506,698 | A/G | — | uncertain significance |
| rs1356551795 | 11:57,506,702 | A/G | — | likely benign |
| rs200104273 | 11:57,507,565 | G/A | — | likely benign |
| rs752744834 | 11:57,507,583 | C/T | — | pathogenic |
| rs367769512 | 11:57,507,625 | C/T | — | likely benign |
| rs1489458657 | 11:57,507,644 | A/G | — | uncertain significance |
| rs1286654782 | 11:57,507,652 | G/T | — | uncertain significance |
| rs144686377 | 11:57,507,705 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.