RNF128
ring finger protein 128
Summary
The protein encoded by this gene is a type I transmembrane protein that localizes to the endocytic pathway. This protein contains a RING zinc-finger motif and has been shown to possess E3 ubiquitin ligase activity. Expression of this gene in retrovirally transduced T cell hybridoma significantly inhibits activation-induced IL2 and IL4 cytokine production. Induced expression of this gene was observed in anergic CD4(+) T cells, which suggested a role in the induction of anergic phenotype. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs776856092 | X:105,937,216 | A/C | — | likely benign |
| rs773333989 | X:105,937,575 | G/A | — | likely benign |
| rs1929409114 | X:105,970,160 | G/C | — | uncertain significance |
| rs2521405175 | X:105,970,163 | C/A | — | uncertain significance |
| rs754640529 | X:105,970,166 | G/A | — | uncertain significance |
| rs1379065487 | X:105,970,207 | G/A | — | uncertain significance |
| rs2521405571 | X:105,970,297 | C/T | — | uncertain significance |
| rs143055519 | X:105,970,425 | C/T | — | benign |
| rs890212416 | X:105,970,435 | C/A | — | uncertain significance |
| rs751960500 | X:105,970,525 | T/G | — | uncertain significance |
| rs148223909 | X:105,970,554 | G/C | — | uncertain significance |
| rs773137829 | X:105,970,600 | A/G | — | uncertain significance |
| rs1374686007 | X:105,970,624 | C/T | — | uncertain significance |
| rs66491909 | X:105,975,499 | G/A | intron variant | — |
| rs1053005721 | X:106,016,160 | G/A | — | uncertain significance |
| rs201268269 | X:106,016,171 | C/T | — | likely benign |
| rs779968781 | X:106,016,172 | G/T | — | uncertain significance |
| rs56121637 | X:106,016,268 | A/T | — | benign |
| rs1930403174 | X:106,016,270 | T/A | — | uncertain significance |
| rs941371224 | X:106,016,281 | T/C | — | uncertain significance |
| rs150778368 | X:106,016,289 | G/A | — | likely benign |
| rs766968168 | X:106,016,314 | C/T | — | uncertain significance |
| rs766138256 | X:106,031,214 | C/T | — | uncertain significance |
| rs753702369 | X:106,031,224 | C/G | — | uncertain significance |
| rs2147704423 | X:106,033,445 | C/G | — | uncertain significance |
| rs376568120 | X:106,034,312 | G/T | — | uncertain significance |
| rs144714463 | X:106,034,342 | A/G | — | conflicting classifications of pathogenicity |
| rs61760879 | X:106,034,435 | C/T | — | uncertain significance |
| rs777828109 | X:106,034,446 | G/C | — | uncertain significance |
| rs146617898 | X:106,034,449 | C/T | — | likely benign |
| rs1250559807 | X:106,038,846 | C/T | — | uncertain significance |
| rs766017076 | X:106,038,857 | G/A | — | uncertain significance |
| rs140667917 | X:106,038,914 | G/A | — | uncertain significance |
| rs200872310 | X:106,038,915 | A/T | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.