TXNDC5
thioredoxin domain containing 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 endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]
Known Variants66 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8643 | 6:7,883,073 | C/T | regulatory region variant | — |
| rs762485347 | 6:7,883,398 | G/T | — | likely benign |
| rs139736017 | 6:7,883,412 | G/A | — | uncertain significance |
| rs202149821 | 6:7,883,423 | T/C | — | uncertain significance |
| rs111331197 | 6:7,883,468 | C/T | — | benign |
| rs1410494618 | 6:7,884,621 | C/G | — | uncertain significance |
| rs2277105 | 6:7,884,652 | C/T | synonymous variant | — |
| rs756747930 | 6:7,884,698 | G/C | — | uncertain significance |
| rs1225936 | 6:7,885,184 | C/A | regulatory region variant | — |
| rs1225937 | 6:7,885,302 | C/T | downstream gene variant | — |
| rs1225938 | 6:7,886,534 | C/T | downstream gene variant | — |
| rs11962800 | 6:7,886,905 | A/C | — | — |
| rs372578 | 6:7,887,223 | A/G | intron variant | — |
| rs1225943 | 6:7,887,945 | C/G | — | — |
| rs89715 | 6:7,888,168 | C/A | — | — |
| rs378963 | 6:7,888,328 | C/T | regulatory region variant | — |
| rs142322001 | 6:7,888,943 | C/T | — | uncertain significance |
| rs146368083 | 6:7,888,946 | C/A | — | uncertain significance |
| rs147956330 | 6:7,888,949 | C/T | — | uncertain significance |
| rs747072122 | 6:7,888,969 | G/A | — | uncertain significance |
| rs755033724 | 6:7,889,026 | G/A | — | likely benign |
| rs1225944 | 6:7,889,088 | A/T | — | — |
| rs1225945 | 6:7,889,310 | C/A | — | — |
| rs759860749 | 6:7,889,797 | G/C | — | uncertain significance |
| rs1225947 | 6:7,890,121 | T/G | intron variant | — |
| rs13873 | 6:7,891,160 | G/T | intron variant | — |
| rs145246440 | 6:7,891,873 | T/A | — | uncertain significance |
| rs147681862 | 6:7,891,874 | C/T | — | uncertain significance |
| rs755607324 | 6:7,891,942 | G/A | — | uncertain significance |
| rs1238994 | 6:7,894,794 | G/T | intron variant | — |
| rs369648581 | 6:7,895,408 | T/C | — | uncertain significance |
| rs443861 | 6:7,896,491 | A/G | intron variant | — |
| rs369086 | 6:7,898,875 | A/C | — | — |
| rs408014 | 6:7,899,394 | G/C | — | — |
| rs368074 | 6:7,899,569 | C/T | — | — |
| rs182714900 | 6:7,899,736 | C/T | intron variant | — |
| rs199917640 | 6:7,899,864 | C/T | — | uncertain significance |
| rs757538891 | 6:7,899,873 | T/C | — | uncertain significance |
| rs1225954 | 6:7,900,028 | T/C | regulatory region variant | — |
| rs1225955 | 6:7,900,709 | A/G | intron variant | — |
| rs1225958 | 6:7,903,629 | G/A | intron variant | — |
| rs145214714 | 6:7,904,845 | G/A | — | likely benign |
| rs2480420968 | 6:7,904,907 | T/G | — | uncertain significance |
| rs541758126 | 6:7,904,915 | A/C | — | uncertain significance |
| rs2480421068 | 6:7,904,925 | A/G | — | uncertain significance |
| rs141197014 | 6:7,904,939 | C/T | — | uncertain significance |
| rs1437689506 | 6:7,904,949 | G/C | — | uncertain significance |
| rs13209404 | 6:7,909,967 | C/T | regulatory region variant | — |
| rs12202976 | 6:7,910,562 | C/A | regulatory region variant | — |
| rs1476063849 | 6:7,910,778 | C/T | — | uncertain significance |
| rs746102262 | 6:7,910,821 | C/A | — | uncertain significance |
| rs368401355 | 6:7,910,831 | G/A | — | uncertain significance |
| rs1207517455 | 6:7,910,868 | C/G | — | uncertain significance |
| rs1581336316 | 6:7,910,915 | C/T | — | uncertain significance |
| rs1760892578 | 6:7,910,936 | A/T | — | uncertain significance |
| rs2480441687 | 6:7,910,939 | A/T | — | uncertain significance |
| rs1760892713 | 6:7,910,942 | A/T | — | uncertain significance |
| rs2113381377 | 6:7,910,945 | A/T | — | uncertain significance |
| rs2480441761 | 6:7,910,948 | A/T | — | uncertain significance |
| rs571433703 | 6:7,910,981 | G/C | — | uncertain significance |
| rs1487587772 | 6:7,910,988 | G/A | — | uncertain significance |
| rs1434389144 | 6:7,910,991 | G/C | — | uncertain significance |
| rs1013430824 | 6:7,910,993 | C/T | — | uncertain significance |
| rs1024106638 | 6:7,910,994 | C/T | — | uncertain significance |
| rs1349477491 | 6:7,911,006 | G/A | — | uncertain significance |
| rs3812162 | 6:7,911,702 | T/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.