Gene
MTOR
mechanistic target of rapamycin kinase
- HGNC 3942(opens in a new tab)
- Ensembl gene ENSG00000198793(opens in a new tab)
- NCBI Gene 2475(opens in a new tab)
Summary
- Cytogenetic location
- 1p36.22
- Coordinates
- Chromosome 1: 11,106,535–11,262,551 (GRCh38)
- Exons
- 58 exons across 156 kb
- Protein
- 2,549 amino acids
- Also known as
- mTOR, RAFT1, RAPT1, FLJ44809
- Previous symbols
- FRAP, FRAP2, FRAP1
- MANE Select transcript
- ENST00000361445.9NM_004958.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How MTOR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 8.7 kb of the gene's 156 kb; 7,650 of those bases code for the protein.
How a genome test reads MTOR
37
positions in MTOR where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 156 kb of MTOR, introns included, not only the 8.7 kb of exons.
Traits linked to MTOR
The Human Phenotype Ontology lists these as features of the rare conditions MTOR can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Intellectual disability
- Ventriculomegaly
- Enlarged brain
- Epilepsy
- Hyperintensity of cerebral white matter on MRI
- Interictal EEG abnormality
- Abnormal speech pattern
- EEG with burst suppression
Show 37 more traits
- EEG with focal sharp slow waves
- EEG with focal spikes
- EEG with polyspike wave complexes
- Focal cortical dysplasia
- Focal motor seizure
- Generalized-onset seizure
- Global developmental delay
- Hemihypsarrhythmia
- Hemimegalencephaly
- More grooves in brain
- Reduced cerebral white matter volume
- Seizure affecting one half of brain
- Specific learning disability
- Underdevelopment of part of brain called corpus callosum
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal neuron shape
- Autism spectrum disorder
- Cranial nerve paralysis
- Epileptic spasm
- Fewer and broader ridges in brain
- Focal tonic seizure
- Gliosis
- Gray matter heterotopia
- Intellectual disability, severe
- Jerking
- More active than typical
- Repeated seizures without recovery between them
- Sudden loss of muscle tone
- Weakness of one side of body
- Astrocytosis
- Cognitive impairment
- Cortical dysplasia
- Focal cortical dysplasia type II
- Focal impaired awareness seizure
- Focal white matter lesions
- Perisylvian polymicrogyria
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). MTOR gene: mechanistic target of rapamycin kinase. Retrieved 16 October 2026, from https://dantelabs.com/genes/mtor
Dante Labs. MTOR gene: mechanistic target of rapamycin kinase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mtor
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