Table 1 Small GTPases in human diseases
From: Targeting small GTPases: emerging grasps on previously untamable targets, pioneered by KRAS
Small GTPases Family | Disease Related to Family Dysfunction | Common Implicated Mutations/Dysregulations |
|---|---|---|
Ras | Pancreatic adenocarcinoma,212 colorectal cancer,212 non-small cell lung cancer, cholangiocarcinoma,212 uterine endometrial cancer,212,541,542 neuroblastoma219,220 | KRAS G12, G13, Q61 |
NRAS G12, G13, Q61 | ||
KRAS G12, G13, Q61 | ||
Noonan syndrome217 | KRAS, NRAS, RAF1, PTPN11, SHOC2, BRAF, MAP3K8 | |
Neurofibromatosis217 | NF1 | |
Rho | Burkitt lymphoma,225,544 T-cell lymphoma,225,545,546,547 Kaposi’s sarcoma,548 Alzheimer’s disease,20 Huntington’s disease19 | RHOA1 |
Pulmonary hypertension,234 urothelial carcinoma,549 psoriasis,232 epilepsy,550 prostate cancer551 | RAC1 | |
Rheumatoid arthritis,236 systemic sclerosis,237 testicular cancer,552 gastric cell carcinoma553 | RHOA1, RAC1 | |
Breast cancer,554,555 non-small cell lung cancer,556,557 squamous cell carcinoma558,559 | RAC1, CDC42 | |
Atherosclerosis,21,235 angina,560 myocardial infarction,561 aortic aneurysm,562 cardiac hypertrophy,563,564 Parkinson’s disease336 | RHOA1, RAC1, CDC42 | |
RHOA1, RAC1, RHOG, CDC42 | ||
RAC1 P29S | ||
Neutrophil immunodeficiency571 | RAC2 D57N | |
Rab | Charcot-Marie-Tooth disease572 | RAB7 L129, K157, N161, V162 |
Warburg Micro syndrome573 | RAB18 | |
Carpenter syndrome245 | RAB23 | |
Griscelli syndrome246 | RAB27A | |
X-Linked intellectual disability574 | RAB39B | |
Choroideremia575 | REP1 | |
Ovarian cancer,24 breast cancer,24,576 renal cancer,577,578 gastric cancer,579 liver cancer,580 non-small cell lung cancer,581 bladder cancer,582 glioblastoma multiforme,583 prostate cancer584 | RAB25 | |
Glioblastoma,585 pancreatic cancer,586 renal cell carcinoma,587 oral squamous cell carcinoma,588 breast cancer589 and gastric cancers590 | RAB31 | |
Alzheimer’s disease238 | RAB1A, RAB3A, RAB5, RAB6, RAB7, RAB8, RAB10, RAB11A, RAB11B, RAB14, RAB17, RAB24, RAB27, RAB36 | |
Cone-rod dystrophy242 | RAB28 | |
RAB1, RAB7, RAB11, RAB39B | ||
Ran | Colorectal cancer,250 frontotemporal dementia,591 glioblastoma,592,593 Alzheimer’s disease,36 breast cancer,362,594 lung cancer595,596 | RAN |
Arf | Creutzfeld-Jakob disease597 | ARF1 |
Periventricular heterotopia,598 retinitis pigmentosa, diabetic kidney disease, amyotrophic lateral sclerosis599 | ARF6 | |
Gliomas254 | ARL3 | |
Meckel-Gruber syndrome,600 Joubert syndrome,600 nephronophthisis601 | ARL13B | |
ARL6 | ||
Chylomicron retention disease261 | SAR1B |