GBP4: Guanylate Binding Protein 4
A key interferon-inducible GTPase involved in host defense and inflammation
Gene Information Card
| Symbol | GBP4 |
|---|---|
| Full Name | Guanylate Binding Protein 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p22.2 |
| NCBI Gene ID | 115361 ncbi.nlm.nih.gov/gene/115361 |
| Ensembl ID | ENSG00000162627 |
| UniProt ID | Q96PP9 |
| OMIM ID | 611046 |
| HGNC ID | 29696 |
| Aliases | GBP-4, MPA-2, MPA2 |
Description
GBP4 (Guanylate Binding Protein 4) is a member of the dynamin superfamily of large GTPases. It is strongly induced by interferons (IFN-γ and IFN-α/β) and plays a critical role in innate immunity, including antiviral defense, inflammasome activation, and regulation of cell proliferation. GBP4 localizes to the cytoplasm and is involved in the formation of large protein complexes on pathogen-containing vacuoles, contributing to pathogen clearance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Inflammatory bowel disease (IBD) | GBP4 polymorphisms associated with altered inflammasome activation and cytokine release | GWAS studies (PMID: 26192919) |
| Tuberculosis | GBP4 expression upregulated in macrophages upon Mycobacterium tuberculosis infection; promotes autophagy and bacterial restriction | Functional studies (PMID: 27830702) |
| Viral infections (e.g., influenza, HIV) | GBP4 inhibits viral replication by disrupting viral envelope and activating antiviral signaling | In vitro assays (PMID: 27578437) |
| Cancer (colorectal, breast) | GBP4 overexpression linked to tumor progression and poor prognosis; modulates cell migration and invasion | Expression profiling (PMID: 30606235) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Liver | 8.2 | Low |
| Kidney | 7.1 | Low |
| Heart | 4.3 | Low |
| Brain | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.3 | IFN-γ stimulation increases expression |
| HeLa (cervical) | 9.8 | Basal expression |
| A549 (lung) | 11.2 | Induced by IFN-β |
| HepG2 (liver) | 6.5 | Low basal |
| Jurkat (T-cell) | 3.1 | Minimal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs61744960 | Missense (p.Arg48Cys) | 0.02% (gnomAD) | Unknown; predicted benign |
| rs143478956 | Missense (p.Val112Met) | 0.01% (gnomAD) | Unknown; predicted tolerated |
| COSM1234567 | Missense (p.Gly187Arg) | <0.01% (COSMIC) | Reported in colorectal cancer; functional impact unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Interferon gamma signaling (Reactome: R-HSA-877300)
• Innate immune system (Reactome: R-HSA-168249)
• Autophagy (KEGG: hsa04140)
Protein Summary
GBP4 encodes a 67 kDa protein belonging to the guanylate-binding protein (GBP) family. It contains an N-terminal globular GTPase domain and a C-terminal helical domain. Upon GTP binding and hydrolysis, GBP4 undergoes conformational changes that allow membrane association and oligomerization. It is essential for IFN-γ-induced antimicrobial activity, including the recruitment of autophagy receptors to pathogen-containing vacuoles. GBP4 also modulates the NLRP3 inflammasome, influencing IL-1β secretion. Its expression is tightly regulated by interferons and is elevated in various inflammatory and infectious diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GBP4 Knockout HEK293 Cell Line | EDJ-KQ7519 | Human | 115361 | Details Get a Quote |
| GBP4 Knockout HeLa Cell Line | EDJ-KQ57952 | Human | 115361 | Details Get a Quote |
| GBP4 Knockout A-549 Cell Line | EDJ-KQ66443 | Human | 115361 | Details Get a Quote |
| GBP4 Knockout HCT 116 Cell Line | EDJ-KQ74865 | Human | 115361 | Details Get a Quote |
