MTOR Chromosome 1
Mechanistic target of rapamycin kinase
Upload your DNA to see your personal genotypes for variants in MTOR.
What This Gene Does
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
"MTOR complex 1|MTOR complex 2|Armadillo like helical domain containing|Phosphatidylinositol 3-kinase-related kinase family"
Locus Type
gene with protein product
Location
1p36.22
Ensembl
ENSG00000198793
Associated Conditions (25)
Inborn genetic diseases
MTOR-related disorder
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Familial thoracic aortic aneurysm and aortic dissection
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Papillary renal cell carcinoma type 1
Isolated focal cortical dysplasia type II
CEBALID syndrome
Intellectual disability
See cases
Autism spectrum disorder
Neurodevelopmental disorder
MTOR related
Dystonia
early-onset
and/or spastic paraplegia
Overgrowth syndrome
Neoplasm
Hemimegalencephaly
MTOR-related megalencephaly and pigmentary mosaicism in skin
+5 more conditions
Key Variants
RS1005738588
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1010121578
Conflicting classifications of pathogenicity
MTOR-related disorder, Inborn genetic diseases, MTOR-related disorder
Health Risk
RS1023010218
Conflicting classifications of pathogenicity
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Health Risk
RS1031980569
Conflicting classifications of pathogenicity
MTOR-related disorder, MTOR-related disorder
Health Risk
RS1057524049
Conflicting classifications of pathogenicity
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Health Risk
RS1192512411
Conflicting classifications of pathogenicity
Health Risk
RS1203359315
Conflicting classifications of pathogenicity
Health Risk
RS1228888866
Conflicting classifications of pathogenicity
Health Risk
RS1258909652
Conflicting classifications of pathogenicity
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Health Risk
RS1278874733
Conflicting classifications of pathogenicity
Health Risk
RS1297595805
Conflicting classifications of pathogenicity
Health Risk
RS1314609319
Conflicting classifications of pathogenicity
Familial thoracic aortic aneurysm and aortic dissection, Inborn genetic diseases, Familial thoracic aortic aneurysm and aortic dissection
Health Risk
All Variants (134)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057524044 | Health Risk | Likely pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS1642915400 | Health Risk | Likely pathogenic | CEBALID syndrome, CEBALID syndrome |
| RS1643024516 | Health Risk | Likely pathogenic | — |
| RS1644090272 | Health Risk | Likely pathogenic | CEBALID syndrome, CEBALID syndrome |
| RS1644348291 | Health Risk | Likely pathogenic | CEBALID syndrome, CEBALID syndrome |
| RS2100323377 | Health Risk | Likely pathogenic | — |
| RS2100396600 | Health Risk | Likely pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS2100402606 | Health Risk | Likely pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS2100414567 | Health Risk | Likely pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS2100423836 | Health Risk | Likely pathogenic | — |
| RS2100423871 | Health Risk | Likely pathogenic | Overgrowth syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Neoplasm |
| RS2100433281 | Health Risk | Likely pathogenic | — |
| RS2100477650 | Health Risk | Likely pathogenic | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes |
| RS2100566800 | Health Risk | Likely pathogenic | Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes |
| RS2100609915 | Health Risk | Likely pathogenic | Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II |
| RS2522995793 | Health Risk | Likely pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS1057519779 | Health Risk | Pathogenic | Isolated focal cortical dysplasia type II, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Isolated focal cortical dysplasia type II |
| RS1057519914 | Health Risk | Pathogenic | Hemimegalencephaly, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Hemimegalencephaly |
| RS1085307113 | Health Risk | Pathogenic | Isolated focal cortical dysplasia type II, CEBALID syndrome, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes |
| RS1085307114 | Health Risk | Pathogenic | Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II |
| RS1553171141 | Health Risk | Pathogenic | Inborn genetic diseases, CEBALID syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS1644347782 | Health Risk | Pathogenic | Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II |
| RS2100983961 | Health Risk | Pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS2522990355 | Health Risk | Pathogenic | — |
| RS587777893 | Health Risk | Pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Isolated focal cortical dysplasia type II |
| RS587777894 | Health Risk | Pathogenic | Isolated focal cortical dysplasia type II, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, Isolated focal cortical dysplasia type II |
| RS587777900 | Health Risk | Pathogenic | CEBALID syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Inborn genetic diseases |
| RS786205165 | Health Risk | Pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, CEBALID syndrome, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes |
| RS863225264 | Health Risk | Pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Inborn genetic diseases, Severe intellectual disability |
| RS869312671 | Health Risk | Pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS878855328 | Health Risk | Pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |
| RS968817513 | Health Risk | Pathogenic | CEBALID syndrome, CEBALID syndrome |
| RS1557739557 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly |
| RS869312666 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome |