IRGQ (Immunity Related GTPase Q)
A member of the immunity-related GTPase family involved in interferon-gamma responses and potential roles in cancer and infectious diseases.
Gene Information Card
| Symbol | IRGQ |
|---|---|
| Full Name | Immunity Related GTPase Q |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 126961 ncbi.nlm.nih.gov/gene/126961 |
| Ensembl ID | ENSG00000105669 |
| UniProt ID | Q8N6G5 |
| OMIM ID | 618837 |
| HGNC ID | 34473 |
| Aliases | GTPase, very large interferon inducible 1 pseudogene; IRGQ; bA203J24.7 |
Description
IRGQ (Immunity Related GTPase Q) is a protein-coding gene belonging to the immunity-related GTPase (IRG) family. These GTPases are induced by interferon-gamma and play roles in host defense against intracellular pathogens, autophagy, and immune regulation. IRGQ is located on chromosome 19q13.2 and encodes a 413-amino acid protein with a GTP-binding domain. Its expression is enriched in immune tissues and certain cancers, suggesting involvement in immune surveillance and tumor biology.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (pan-cancer) | Altered expression may affect immune evasion; mutations observed in various tumors | COSMIC; TCGA |
| Infectious diseases (e.g., tuberculosis) | IRGQ may modulate pathogen clearance via GTPase activity and autophagy | NCBI Gene; literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.2 | Medium |
| Bone marrow | 8.9 | Low |
| Lung | 6.3 | Low |
| Testis | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 15.3 | High expression |
| HeLa (cervical) | 8.7 | Moderate |
| A549 (lung) | 6.2 | Low |
| HepG2 (liver) | 4.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.R112Q | Missense | <0.1% | Unknown; possibly benign |
| p.G198V | Missense | <0.1% | Unknown; predicted damaging by SIFT |
| c.456+1G>A | Splice site | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Splice site mutations and truncating variants likely impair GTPase activity and immune function.
Gain of Function (GOF)
No documented gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • GTP binding | • GTPase activity |
| • immune response | • interferon-gamma-mediated signaling pathway |
| • autophagy | • cytoplasm |
Pathways
• Interferon-gamma signaling
• Autophagy
• Immune system
Protein Summary
The IRGQ protein is a 413-amino acid GTPase with a conserved G domain. It is induced by interferon-gamma and localizes to the cytoplasm. It may participate in pathogen clearance by regulating autophagy and membrane trafficking. Structural predictions indicate a typical IRG fold with nucleotide-binding motifs. Post-translational modifications include phosphorylation sites, but functional validation is limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IRGQ Knockout HEK293 Cell Line | EDJ-KQ8892 | Human | 126298 | Details Get a Quote |
| IRGQ Knockout A-549 Cell Line | EDJ-KQ35218 | Human | 126298 | Details Get a Quote |
| IRGQ Knockout HCT 116 Cell Line | EDJ-KQ35219 | Human | 126298 | Details Get a Quote |
| IRGQ Knockout HeLa Cell Line | EDJ-KQ35220 | Human | 126298 | Details Get a Quote |
