Rictor
RPTOR Independent Companion of MTOR Complex 2
Gene Information Card
| Symbol | RICTOR |
|---|---|
| Full Name | RPTOR Independent Companion of MTOR Complex 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.1 |
| NCBI Gene ID | 253260 ncbi.nlm.nih.gov/gene/253260 |
| Ensembl ID | ENSG00000164327 |
| UniProt ID | Q6R327 |
| OMIM ID | 609424 |
| HGNC ID | 28611 |
| Aliases | AVO3, PIA, FLJ11016, hAVO3 |
Description
RICTOR (RPTOR Independent Companion of MTOR Complex 2) encodes a key component of the mTOR complex 2 (mTORC2), which phosphorylates AKT at Ser473, promoting cell survival, proliferation, and cytoskeletal organization. RICTOR is essential for mTORC2 assembly and function, and its dysregulation is implicated in various cancers, metabolic disorders, and developmental syndromes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | RICTOR amplification or overexpression leads to hyperactivation of mTORC2/AKT signaling, promoting tumor growth and resistance to therapy. | COSMIC, ClinVar |
| Primary microcephaly | Loss-of-function mutations in RICTOR impair mTORC2 signaling, affecting neuronal development and brain size. | OMIM, ClinVar |
| Metabolic syndrome | RICTOR variants influence insulin signaling via AKT phosphorylation, contributing to insulin resistance. | NCBI Gene, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Adipose tissue | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.8 | Cervical cancer cell line |
| HEK293 | 11.2 | Embryonic kidney cells |
| MCF7 | 9.5 | Breast cancer cell line |
| A549 | 7.3 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3073C>T (p.Arg1025*) | Nonsense | <0.1% | Loss of function; truncation of protein |
| c.4520A>G (p.Asn1507Ser) | Missense | <0.1% | Unknown functional impact |
| Amplification | Copy number gain | Variable across cancers | Increased RICTOR expression; mTORC2 hyperactivation |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg1025*) lead to truncated, non-functional RICTOR protein, impairing mTORC2 assembly and AKT Ser473 phosphorylation.
Gain of Function (GOF)
Gene amplification or overexpression results in increased mTORC2 activity, enhancing AKT signaling and promoting oncogenesis.
Dominant Negative (DN)
Not well documented; some missense variants may disrupt mTORC2 interaction without complete loss of function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0031932 - TORC2 complex | • GO:0043547 - positive regulation of GTPase activity |
| • GO:0032869 - cellular response to insulin stimulus | • GO:0046777 - protein autophosphorylation |
| • GO:0006468 - protein phosphorylation |
Pathways
• PI3K/AKT/mTOR signaling pathway (KEGG: hsa04151)
• mTOR signaling pathway (Reactome: R-HSA-165159)
• Insulin signaling pathway (KEGG: hsa04910)
Protein Summary
RICTOR is a 1708-amino acid protein that serves as a scaffold for mTORC2, binding to mTOR, SIN1, and PROTOR. It is required for mTORC2-mediated phosphorylation of AKT at Ser473, which activates AKT and downstream effectors involved in cell survival, metabolism, and cytoskeletal remodeling. RICTOR lacks intrinsic kinase activity but is essential for substrate recognition and complex stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Rictor Knockout IBMDM Cell Line | EDC90300 | Mouse | 78757 | Details Get a Quote |
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