Human Gene Module / Chromosome 5 / RICTOR

RICTORRPTOR independent companion of MTOR complex 2

SFARI Gene Score
3
Suggestive Evidence Criteria 3.1
Autism Reports / Total Reports
3 / 4
Rare Variants / Common Variants
12 / 0
Aliases
-
Associated Syndromes
-
Chromosome Band
5p13.1
Associated Disorders
-
Relevance to Autism

Carapito et al., 2024 reported eight unrelated patients carrying de novo or heterozygous variants inherited from an affected parent in the RICTOR gene presenting with developmental delay/intellectual disability and associated features including abnormal behavior (including two individuals with autism spectrum disorder), seizures, growth failure, feeding difficulties, hypertonia, brain anomalies, dysmorphic features, and other congenital malformations; fibroblasts from a patient with a de novo RICTOR missense variant (p.His72Tyr) and a clinical presentation of ASD, developmental delay, intellectual disability, and seizures displayed hyperactivation of the mTORC2 pathway, indicating a gain-of-function effect. De novo missense variants in RICTOR have also been identified in ASD probands from the Simons Simplex Collection, the SPARK cohort, and a Chinese ASD cohort (Iossifov et al., 2014; Zhou et al., 2022; Wang et al., 2023).

Molecular Function

RICTOR is a component of the mTORC2 signalling complex that regulates cell growth and survival in response to hormonal signals.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to RICTOR (4 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
2 Support - Zhou X et al. (2022) Yes -
3 Support - Wang J et al. (2023) Yes -
4 Primary - Raphael Carapito et al. () No ASD, ADHD, epilepsy/seizures
Rare Variants   (12)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss Familial Maternal Simplex 39738822 Raphael Carapito et al. ()
c.1859A>G p.Gln620Arg missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.4657G>T p.Asp1553Tyr missense_variant De novo - Simplex 35982159 Zhou X et al. (2022)
c.4253A>G p.Tyr1418Cys missense_variant De novo - Simplex 37393044 Wang J et al. (2023)
c.214C>T p.His72Tyr missense_variant De novo - Simplex 39738822 Raphael Carapito et al. ()
c.4138T>A p.Phe1380Ile missense_variant De novo - Simplex 25363768 Iossifov I et al. (2014)
c.689C>T p.Thr230Ile missense_variant De novo - Simplex 39738822 Raphael Carapito et al. ()
c.1851+3G>C p.? splice_region_variant De novo - Simplex 39738822 Raphael Carapito et al. ()
c.2101dup p.Thr701AsnfsTer4 frameshift_variant De novo - Simplex 39738822 Raphael Carapito et al. ()
c.1378G>C p.Asp460His missense_variant Familial Maternal Multiplex 39738822 Raphael Carapito et al. ()
c.4450C>T p.Arg1484Ter stop_gained Familial Paternal Extended multiplex 39738822 Raphael Carapito et al. ()
c.4607_4611delAACTG p.Leu1537CysfsTer4 frameshift_variant De novo - Simplex 39738822 Raphael Carapito et al. ()
Common Variants  

No common variants reported.

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