RNF111
ring finger protein 111
Summary
The protein encoded by this gene is a nuclear RING-domain containing E3 ubiquitin ligase. This protein interacts with the transforming growth factor (TGF) -beta/NODAL signaling pathway by promoting the ubiquitination and proteosomal degradation of negative regulators, like SMAD proteins, and thereby enhances TGF-beta target-gene transcription. As a modulator of the nodal signaling cascade, this gene plays a critical role in the induction of mesoderm during embryonic development. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]
Known Variants61 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777277081 | 15:59,323,044 | A/G | — | uncertain significance |
| rs149869910 | 15:59,323,161 | A/G | — | uncertain significance |
| rs779838355 | 15:59,323,213 | C/A | — | uncertain significance |
| rs1470477843 | 15:59,323,368 | T/C | — | uncertain significance |
| rs1448358719 | 15:59,323,407 | A/C | — | uncertain significance |
| rs2549374142 | 15:59,323,553 | A/G | — | uncertain significance |
| rs769030367 | 15:59,323,578 | G/A | — | uncertain significance |
| rs140947433 | 15:59,323,592 | T/G | — | uncertain significance |
| rs764084232 | 15:59,323,629 | A/G | — | uncertain significance |
| rs201440226 | 15:59,323,643 | C/T | — | uncertain significance |
| rs145882076 | 15:59,323,713 | G/A | — | uncertain significance |
| rs767842846 | 15:59,323,737 | G/A | — | uncertain significance |
| rs757681289 | 15:59,323,752 | G/A | — | uncertain significance |
| rs145842619 | 15:59,323,782 | G/A | — | uncertain significance |
| rs750868157 | 15:59,323,849 | T/G | — | uncertain significance |
| rs199967891 | 15:59,323,865 | A/C | — | uncertain significance |
| rs772256288 | 15:59,344,524 | G/T | — | uncertain significance |
| rs755807411 | 15:59,344,572 | A/G | — | uncertain significance |
| rs1874564398 | 15:59,344,599 | G/A | — | uncertain significance |
| rs1375049056 | 15:59,344,608 | G/T | — | uncertain significance |
| rs779847668 | 15:59,344,629 | C/T | — | uncertain significance |
| rs1036603218 | 15:59,347,895 | T/C | — | uncertain significance |
| rs201034758 | 15:59,347,945 | C/T | — | uncertain significance |
| rs1020200905 | 15:59,347,990 | C/A | — | uncertain significance |
| rs2549445355 | 15:59,350,560 | A/C | — | uncertain significance |
| rs142293140 | 15:59,350,686 | T/A | — | likely benign |
| rs2549446115 | 15:59,350,738 | C/T | — | uncertain significance |
| rs562337374 | 15:59,350,746 | G/A | — | uncertain significance |
| rs760677698 | 15:59,358,980 | A/G | — | likely benign |
| rs2042678191 | 15:59,359,024 | G/T | — | uncertain significance |
| rs369166271 | 15:59,359,028 | C/T | — | uncertain significance |
| rs141362511 | 15:59,359,079 | C/A | — | uncertain significance |
| rs2549467931 | 15:59,359,120 | T/A | — | uncertain significance |
| rs777860164 | 15:59,359,158 | C/T | — | uncertain significance |
| rs758130009 | 15:59,359,263 | G/T | — | uncertain significance |
| rs2042689001 | 15:59,359,268 | A/G | — | uncertain significance |
| rs757382776 | 15:59,368,213 | C/T | — | uncertain significance |
| rs201789684 | 15:59,368,261 | G/A | — | uncertain significance |
| rs142678358 | 15:59,368,285 | G/A | — | uncertain significance |
| rs147436747 | 15:59,368,289 | C/T | — | uncertain significance |
| rs139742512 | 15:59,368,297 | C/G | — | uncertain significance |
| rs2043153954 | 15:59,368,300 | A/G | — | uncertain significance |
| rs747873243 | 15:59,368,307 | C/A | — | uncertain significance |
| rs147189555 | 15:59,368,357 | C/T | — | uncertain significance |
| rs765567134 | 15:59,368,370 | C/T | — | uncertain significance |
| rs1488962124 | 15:59,368,381 | C/T | — | uncertain significance |
| rs777435853 | 15:59,368,402 | A/T | — | uncertain significance |
| rs759567903 | 15:59,373,194 | A/G | — | uncertain significance |
| rs534665121 | 15:59,373,230 | G/A | — | uncertain significance |
| rs747962828 | 15:59,373,308 | C/T | — | uncertain significance |
| rs144710041 | 15:59,373,381 | C/T | — | uncertain significance |
| rs752634289 | 15:59,373,396 | C/A | — | uncertain significance |
| rs2549521954 | 15:59,376,415 | G/A | — | uncertain significance |
| rs2549525371 | 15:59,377,907 | G/A | — | uncertain significance |
| rs775998043 | 15:59,377,937 | G/T | — | uncertain significance |
| rs181181625 | 15:59,377,940 | C/T | missense variant | — |
| rs374954455 | 15:59,377,957 | C/G | — | uncertain significance |
| rs778734872 | 15:59,383,295 | A/G | — | uncertain significance |
| rs1363779471 | 15:59,384,758 | A/G | — | uncertain significance |
| rs2079083518 | 15:59,384,802 | A/G | — | uncertain significance |
| rs993296113 | 15:59,384,814 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.