WDR24
WD Repeat Domain 24: A GATOR2 Complex Component in Nutrient Sensing and Cancer
Gene Information Card
| Symbol | WDR24 |
|---|---|
| Full Name | WD Repeat Domain 24 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 84219 ncbi.nlm.nih.gov/gene/84219 |
| Ensembl ID | ENSG00000161980 |
| UniProt ID | Q96S15 |
| OMIM ID | 617958 |
| HGNC ID | 20874 |
| Aliases | FLJ11273, MGC131831 |
Description
WDR24 encodes a WD40 repeat-containing protein that is a core component of the GATOR2 complex, which positively regulates the mTORC1 signaling pathway in response to amino acid availability. The protein is involved in cellular nutrient sensing and growth control. Mutations and altered expression of WDR24 have been implicated in cancer, particularly glioma and other solid tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioma | WDR24 mutations may disrupt GATOR2 function, leading to aberrant mTORC1 activation and uncontrolled cell proliferation. | COSMIC; ClinVar |
| Colorectal cancer | Somatic mutations in WDR24 identified in tumor samples, potentially affecting nutrient signaling. | COSMIC |
| Lung cancer | Recurrent missense mutations observed, suggesting a role in tumorigenesis. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.3 | Medium |
| Kidney | 8.7 | Low |
| Liver | 6.2 | Low |
| Lung | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 11.8 | Moderate expression |
| A549 | 9.4 | Moderate expression |
| U87MG | 14.1 | High expression (glioma cell line) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <1% | Unknown functional impact; reported in COSMIC |
| c.1246G>A (p.Gly416Arg) | Missense | <1% | Predicted damaging; observed in colorectal cancer |
| c.1789_1790insA (p.Thr597Asnfs*2) | Frameshift | <1% | Loss-of-function; truncation of protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in WDR24 are predicted to cause loss of GATOR2 complex integrity, impairing mTORC1 activation.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in WD40 repeats may disrupt protein-protein interactions within GATOR2, potentially exerting dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cellular response to amino acid starvation (GO:0034198) | • regulation of TOR signaling (GO:0032006) |
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• mTORC1 signaling (Reactome: R-HSA-165159)
• GATOR2 complex (Reactome: R-HSA-9639288)
• Amino acid sensing (KEGG: hsa04150)
Protein Summary
WDR24 is a 597-amino acid protein containing multiple WD40 repeats that form a beta-propeller structure. It is a stable component of the GATOR2 complex, which interacts with GATOR1 to regulate mTORC1 activity in response to amino acid levels. The protein is ubiquitously expressed with highest levels in brain and testis. Structural integrity of WDR24 is critical for proper nutrient signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WDR24 Knockout HEK293 Cell Line | EDJ-KQ1161 | Human | 84219 | Details Get a Quote |
| WDR24 Knockout HCT 116 Cell Line | EDJ-KQ20407 | Human | 84219 | Details Get a Quote |
| WDR24 Knockout HeLa Cell Line | EDJ-KQ20408 | Human | 84219 | Details Get a Quote |
| WDR24 Knockout A-549 Cell Line | EDJ-KQ66049 | Human | 84219 | Details Get a Quote |
