MTDH
metadherin
Summary
Enables NF-kappaB binding activity; double-stranded RNA binding activity; and transcription coactivator activity. Involved in several processes, including lipopolysaccharide-mediated signaling pathway; positive regulation of intracellular signal transduction; and regulation of DNA-templated transcription. Located in endoplasmic reticulum; nuclear lumen; and perinuclear region of cytoplasm. Implicated in hepatocellular carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants51 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1216701987 | 8:98,656,744 | C/T | — | uncertain significance |
| rs1480111689 | 8:98,656,801 | G/A | — | uncertain significance |
| rs755825363 | 8:98,656,816 | G/A | — | uncertain significance |
| rs912753616 | 8:98,656,849 | G/A | — | uncertain significance |
| rs140652237 | 8:98,656,894 | G/A | — | benign |
| rs993528183 | 8:98,656,942 | G/C | — | uncertain significance |
| rs778309192 | 8:98,656,949 | C/T | — | uncertain significance |
| rs963628652 | 8:98,657,015 | C/G | — | uncertain significance |
| rs778184774 | 8:98,657,018 | T/G | — | uncertain significance |
| rs113646142 | 8:98,657,020 | C/A | — | uncertain significance |
| rs535629753 | 8:98,657,021 | C/T | — | uncertain significance |
| rs965450132 | 8:98,657,030 | C/T | — | uncertain significance |
| rs188271601 | 8:98,657,041 | C/G | — | benign |
| rs2438207 | 8:98,666,815 | G/A | intron variant | — |
| rs2488438063 | 8:98,673,324 | G/A | — | uncertain significance |
| rs2488438072 | 8:98,673,325 | C/T | — | uncertain significance |
| rs919435427 | 8:98,673,381 | A/G | — | uncertain significance |
| rs1223207425 | 8:98,673,385 | A/T | — | uncertain significance |
| rs2488438401 | 8:98,673,390 | A/G | — | uncertain significance |
| rs2513369 | 8:98,681,771 | C/G | intron variant | — |
| rs36109038 | 8:98,689,549 | G/A | intron variant | — |
| rs2488537127 | 8:98,698,975 | A/T | — | uncertain significance |
| rs1242588795 | 8:98,699,707 | C/T | — | uncertain significance |
| rs766410094 | 8:98,699,746 | A/G | — | uncertain significance |
| rs772452623 | 8:98,699,785 | G/A | — | uncertain significance |
| rs1813415346 | 8:98,699,798 | C/T | — | uncertain significance |
| rs2488546929 | 8:98,701,280 | A/G | — | uncertain significance |
| rs2488546964 | 8:98,701,286 | C/G | — | uncertain significance |
| rs2488547225 | 8:98,701,328 | C/G | — | uncertain significance |
| rs753565709 | 8:98,703,186 | C/T | — | uncertain significance |
| rs755493289 | 8:98,703,203 | C/T | — | uncertain significance |
| rs2488554921 | 8:98,703,290 | T/C | — | likely benign |
| rs146663706 | 8:98,703,396 | G/T | — | uncertain significance |
| rs931649908 | 8:98,703,403 | A/G | — | uncertain significance |
| rs2438197 | 8:98,706,423 | T/A | — | — |
| rs564016127 | 8:98,712,027 | A/G | — | uncertain significance |
| rs753543132 | 8:98,712,032 | G/A | — | uncertain significance |
| rs1423367834 | 8:98,712,033 | A/T | — | uncertain significance |
| rs775103878 | 8:98,718,914 | A/T | — | uncertain significance |
| rs1293009711 | 8:98,718,962 | T/A | — | uncertain significance |
| rs149211171 | 8:98,720,757 | A/T | — | — |
| rs753802794 | 8:98,725,899 | G/T | — | uncertain significance |
| rs145881524 | 8:98,725,927 | T/C | — | uncertain significance |
| rs1199972683 | 8:98,731,340 | C/A | — | uncertain significance |
| rs1312492052 | 8:98,731,382 | A/G | — | uncertain significance |
| rs768795659 | 8:98,731,394 | G/A | — | uncertain significance |
| rs1299882280 | 8:98,731,398 | T/C | — | likely benign |
| rs370648845 | 8:98,735,200 | A/G | — | uncertain significance |
| rs117026063 | 8:98,736,822 | T/C | — | benign |
| rs2487860078 | 8:98,736,828 | C/A | — | uncertain significance |
| rs1485089931 | 8:98,736,830 | A/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.