Overview

Location [1]
1p36.22
Pathway
PI3K/AKT1/MTOR
Synonyms [1]
FRAP2, SKS, RAPT1, RAFT1, FRAP, FRAP1

Mechanistic target of rapamycin (MTOR) is a gene that encodes a family of phosphatidylinositol kinase-related kinases. Activating MTOR mutations increase the kinase activity of MTOR, leading to hyperactivation of downstream pro-survival signaling pathways. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions are also observed. MTOR mutations are observed in cancers such as breast cancer, lung cancer, ovarian cancer, and skin cancer. 

Significance of MTOR in Diseases

Malignant Solid Tumor +

Breast Carcinoma +

Colorectal Carcinoma +

Non-Small Cell Lung Carcinoma +

Cancer +

Melanoma +

Non-Hodgkin Lymphoma +

Endometrial Carcinoma +

Gastric Adenocarcinoma +

Head And Neck Squamous Cell Carcinoma +

Hepatocellular Carcinoma +

Multiple Myeloma +

Ovarian Carcinoma +

Pancreatic Carcinoma +

Renal Cell Carcinoma +

Squamous Cell Lung Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Aggressive Systemic Mastocytosis +

B-Cell Non-Hodgkin Lymphoma +

Bile Duct Carcinoma +

Bladder Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Head And Neck Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Liposarcoma +

Lung Carcinoma +

Lymphoma +

Malignant Glioma +

Malignant Uterine Neoplasm +

Mast Cell Leukemia +

Myelodysplastic Syndromes +

Myeloid Neoplasm +

Osteosarcoma +

Pecoma +

Peritoneal Mesothelioma +

Prostate Carcinoma +

Small Cell Lung Carcinoma +

Soft Tissue Sarcoma +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

Thyroid Gland Carcinoma +

Undifferentiated Pleomorphic Sarcoma +

Urothelial Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.