TMEM147
transmembrane protein 147
Summary
Enables ribosome binding activity. Involved in multi-pass transmembrane protein insertion into ER membrane and protein localization to nuclear inner membrane. Located in nuclear membrane. Part of multi-pass translocon complex. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs568733766 | 19:36,036,126 | C/T | coding sequence variant | — |
| rs2514729165 | 19:36,036,647 | C/T | — | likely benign |
| rs2514729169 | 19:36,036,648 | C/T | — | likely benign |
| rs2514729190 | 19:36,036,655 | A/C | — | uncertain significance |
| rs200901862 | 19:36,036,660 | G/C | — | conflicting classifications of pathogenicity |
| rs766267043 | 19:36,036,672 | G/C | — | uncertain significance |
| rs2514729223 | 19:36,036,675 | C/T | — | uncertain significance |
| rs2514729323 | 19:36,036,704 | C/G | — | pathogenic |
| rs750402329 | 19:36,036,804 | C/T | — | uncertain significance |
| rs746452158 | 19:36,036,849 | A/C | — | uncertain significance |
| rs2071558827 | 19:36,037,426 | A/G | — | uncertain significance |
| rs769650912 | 19:36,037,483 | T/C | — | uncertain significance |
| rs2514731744 | 19:36,037,613 | G/C | — | uncertain significance |
| rs2514731913 | 19:36,037,688 | A/G | — | uncertain significance |
| rs749966973 | 19:36,037,715 | G/A | — | pathogenic |
| rs74736466 | 19:36,037,720 | G/A | — | benign |
| rs566519921 | 19:36,037,846 | G/T | — | pathogenic |
| rs147980800 | 19:36,037,872 | C/T | — | uncertain significance |
| rs2514732396 | 19:36,037,892 | G/A | — | pathogenic |
| rs371795896 | 19:36,037,900 | T/A | — | pathogenic |
| rs2514732452 | 19:36,037,921 | A/G | — | uncertain significance |
| rs2514732927 | 19:36,038,077 | C/G | — | pathogenic |
| rs771380575 | 19:36,038,087 | C/T | — | pathogenic |
| rs201297807 | 19:36,038,139 | T/G | — | uncertain significance |
| rs759996 | 19:36,038,221 | T/C | — | likely benign |
| rs765528879 | 19:36,038,272 | G/A | — | uncertain significance |
| rs1461245101 | 19:36,038,275 | C/T | — | uncertain significance |
| rs1457897245 | 19:36,038,306 | G/A | — | uncertain significance |
| rs566171585 | 19:36,038,326 | G/A | — | uncertain significance |
| rs770774697 | 19:36,038,332 | G/A | — | uncertain significance |
| rs146493363 | 19:36,038,924 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.