MIOS (MIOS GATOR Complex Subunit)
A key regulator of amino acid sensing and mTORC1 signaling
Gene Information Card
| Symbol | MIOS |
|---|---|
| Full Name | MIOS GATOR Complex Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 7p21.3 |
| NCBI Gene ID | 54468 ncbi.nlm.nih.gov/gene/54468 |
| Ensembl ID | ENSG00000106031 |
| UniProt ID | Q9NXC5 |
| OMIM ID | 614440 |
| HGNC ID | 23021 |
| Aliases | GATOR2 complex subunit MIOS, MIO, Mio, WD repeat-containing protein MIOS |
Description
The MIOS gene encodes a WD40 repeat-containing protein that is a core component of the GATOR2 subcomplex of the GATOR complex. This complex functions as a critical regulator of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway, which controls cell growth, proliferation, and metabolism in response to amino acid availability. MIOS is essential for the integrity of GATOR2 and for the inhibition of GATOR1, thereby promoting mTORC1 activation when amino acids are abundant.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of mTORC1 signaling via MIOS mutations or altered expression may promote uncontrolled cell growth. | COSMIC, ClinVar |
| Epileptic encephalopathy, early infantile | Loss-of-function mutations in MIOS impair GATOR2 function, leading to mTORC1 hyperactivation and neuronal dysfunction. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 10.2 | Medium |
| Lung | 8.7 | Medium |
| Liver | 6.1 | Low |
| Heart | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | Embryonic kidney cells |
| K562 | 11.8 | Leukemia cells |
| HeLa | 10.5 | Cervical cancer cells |
| HepG2 | 7.2 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.1234C>T (p.Arg412Trp) | Missense | Rare | Unknown effect; reported in ClinVar |
| c.2345_2346del (p.Leu782fs) | Frameshift | Rare | Loss of function, associated with epileptic encephalopathy |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or disrupt the WD40 repeats impair GATOR2 assembly, leading to mTORC1 hyperactivation.
Gain of Function (GOF)
Not well documented; gain-of-function mutations are not commonly reported for MIOS.
Dominant Negative (DN)
Not established; MIOS functions as part of a multimeric complex, and dominant-negative effects have not been described.
View complete mutation data：
Gene Ontology (GO)
| • GATOR2 complex | • regulation of TORC1 signaling |
| • protein binding | • WD40 repeat domain binding |
| • cellular response to amino acid stimulus |
Pathways
• mTOR signaling pathway (KEGG: hsa04150)
• Amino acid sensing and mTORC1 activation (Reactome: R-HSA-9639288)
Protein Summary
MIOS is a 964-amino acid protein containing multiple WD40 repeats that mediate protein-protein interactions within the GATOR2 complex. It localizes to the cytoplasm and is essential for the stability of GATOR2. By facilitating the inhibition of GATOR1, MIOS promotes the activation of mTORC1 in the presence of amino acids, thereby linking nutrient availability to cell growth and metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIOS Knockout HEK293 Cell Line | EDJ-KQ1160 | Human | 54468 | Details Get a Quote |
| MIOS Knockout HCT 116 Cell Line | EDJ-KQ20405 | Human | 54468 | Details Get a Quote |
| MIOS Knockout HeLa Cell Line | EDJ-KQ20406 | Human | 54468 | Details Get a Quote |
| MIOS Knockout A-549 Cell Line | EDJ-KQ64915 | Human | 54468 | Details Get a Quote |
