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

Malignant melanoma,212 leukemia,212 lymphoma212

NRAS G12, G13, Q61

Costello syndrome,217 salivary gland cancer543

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

Glioblastoma565,566,567

RHOA1, RAC1, RHOG, CDC42

Melanoma,568,569 squamous cell carcinoma570

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

Parkinson’s disease187,238

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

Bardet-Biedl syndrome259,260

ARL6

Chylomicron retention disease261

SAR1B