Table 1.
Reported RNF Proteins Mutations in Human Patients
| Gene name | Gene alteration | Disease | Reference |
|---|---|---|---|
| Parkin | E344G, R275Q, T173A, R42C, and I2V (heterozygous) | Glioblastoma | 39 |
| Parkin | Copy number loss (heterozygous) | Glioblastoma | 39 |
| MDM2 | Amplification of MDM2 in 7.1% of glioblastoma | Glioblastoma | 41 |
| ZNRF3 |
p.Q167, p.E173, p.Q198, p.C233, p.V320M, p.N392fs, and p.P445L (homozygous) |
Adrenocortical carcinoma | 46 |
| ZNRF3 | Copy number loss (homozygous) | Adrenocortical carcinoma | 46,47 |
| Parkin |
N254S, D243N, and H279P (heterozygous) and A46T(homozygous) |
Lung cancer | 39 |
| Parkin | p.R275W (heterozygous) | Lung cancer | 49 |
| RNF55 | S80N/H94Y, Q249E, and W802* (heterozygous) | Lung cancer | 52 |
| RNF55 | Copy number loss (heterozygous) | Lung cancer | 52 |
| Skp2 | Amplification of Skp2 gene | Lung cancer | 53,54 |
| Parkin | Copy number loss | Breast, serous ovarian, and bladder cancers | 50 |
| Parkin | Promoter methylation of Parkin gene | Breast cancer | 57 |
| MDM2 | Amplification of MDM2 in 7% (40/661) of breast cancer | Breast cancer | 58 |
| RNF43 | 10 different RNF43 somatin mutations (heterozygous) | Ovarian cancer | 61,62 |
| RNF43 | p.G659fs and p.R117fs | Endometrial cancer and colorectal cancer | 65 |
| RNF43 | 16 different RNF43 somatin mutations (heterozygous) | Gastric cancer | 69 |
| RNF180 | Promoter methylation of RNF180 gene | Gastric cancer | 70–72 |
| MDM2 | Amplification of MDM2 in gastric cancer | Gastric cancer | 73,74 |
| RNF43 | 5 frameshift mutations (p.F69fs, p.S264fs, p.L311fs, p.R363fs, and p.V490fs), 1 non-sense mutation (p.Q153X), and 2 missense mutations (p.I164N and p.P310A) | Pancreatic cancer | 78 |
| Parkin | Copy number loss (heterozygous), promoter methylation of Parkin, and p.C211T mutation | Colorectal cancer | 85 |
| MDM2 | Amplification of MDM2 in 9-18% of colorectal cancer | Colorectal cancer | 86,87 |
| RNF55 | 16 different RNF55 mutations (homozygous) | MDS/ MPN | 89 |
| RNF55 | Over 50 different RNF55 mutations in JMML (homozygous) | juvenile myelomonocytic leukemia | 92–94 |
| Parkin | Promoter methylation of Parkin gene | Acute lymphoblastic leukemia and chronic myeloid leukemia | 98 |
| MDM2 | Amplification of MDM2 in B-cell chronic lymphocytic leukemia | B-cell chronic lymphocytic leukemia | 99 |
| BIRC2/ BIRC3 | Copy number loss (homozygous) | Multiple myeloma | 101 |
| BIRC3 |
Over 20 different BIRC3 mutations in MCL (heterozygous) |
Mantle cell lymphoma | 102,103 |
| BIRC3 | 6 different mutations and copy number loss in SMZL (heterozygous) | Splenic marginal zone lymphoma | 104 |
| RNF31 | p.Q584H and p.Q622L | Activated B cell-like (ABC) subtype of diffuse large B cell lymphoma (DLBCL) | 105 |
| RNF56 | rs3772534 A/G | Systemic lupus erythematosus | 118 |
| RNF56 | rs9657904 T/C | Multiple sclerosis | 121 |
| RNF56 | rs3772534 A/G | Type 1 diabetes in children | 129 |
| RNF31 | L72P (homozygous) | multi-organ auto-inflammation, combined immunodeficiency, subclinical amylopectinosis, and systemic lymphangiectasia | 132 |
| RNF54 | L41fsX7 (homozygous) and Q185X;c.ex1_ex4del (compound heterozygous) | chronic auto-inflammation, invasive bacterial infections, and muscular amylopectinosis | 133 |
| RNF216 | p.R717C (heterozygous) | A syndrome of cerebellar ataxia, dementia, and hypogonadotropic hypogonadism | 179 |
| RNF220 | p.R363Q and p.R365Q (homozygous) | progressive ataxia and deafness (AR-LAD) | 180 |
| Parkin | Over 100 different Parkin mutations affecting each of Parkin’s 12 exons | Parkinson’s disease | 138,139 |