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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GBP4
guanylate binding protein 4
Chromosome 1 · 1p22.2
NCBI Gene: 115361Ensembl: ENSG00000162654.10HGNC: HGNC:20480UniProt: Q96PP9
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein homodimerization activityperinuclear region of cytoplasmnucleuscytosolbacterial diseasepathological myopiaImmunodeficiency due to a late component of complements deficiencyneoplasm
✦AI Summary

GBP4 is an interferon-γ-inducible GTPase that functions as a key component of innate immune defense against intracellular pathogens. Mechanistically, GBP4 assembles on the surface of cytosol-invading Gram-negative bacteria into polyvalent signaling platforms that recruit and activate caspase-4, leading to gasdermin-D-dependent pyroptosis and interleukin-18 processing 1. This bacterial destruction prevents intracellular replication and alerts neighboring cells to infection. Beyond its canonical antimicrobial role, GBP4 has emerged as a significant epigenetic driver in cancer. In intrahepatic cholangiocarcinoma, GBP4 demethylation correlates with aggressive phenotypes, regulating tumor proliferation, migration, and invasion 2. In pancreatic cancer, DNA hypomethylation-driven GBP4 upregulation paradoxically induces T cell exhaustion and immune checkpoint gene expression, yet tumors with high GBP4 show enhanced sensitivity to anti-PD-1 immunotherapy 3. Pan-cancer analysis confirms GBP4 as an inflammation marker that correlates with tumor-infiltrating immune cells and enhanced immunotherapy responsiveness 4. Clinically, GBP4 demonstrates diagnostic utility as a sex-specific RNA biomarker for pediatric tuberculosis 5 and shows diagnostic potential in EBV-associated gastric cancer 6. Promoter hypomethylation of GBP4 characterizes oral and oropharyngeal cancers 7, suggesting epigenetic dysregulation as a hallmark of malignant transformation.

Sources cited
1
GBP4 controls caspase-4 recruitment on bacterial surfaces and is essential for pyroptosis-mediated antibacterial defense
PMID: 32541830
2
GBP4 demethylation is prevalent in aggressive intrahepatic cholangiocarcinoma subtypes and regulates tumor proliferation, migration, and invasion
PMID: 38471085
3
GBP4 expression driven by DNA hypomethylation induces T cell exhaustion in pancreatic cancer but predicts anti-PD-1 sensitivity
PMID: 39110249
4
GBP4 correlates with tumor-infiltrating immune cells, immune checkpoints, and predicts immunotherapy and anti-EGFR therapy responses across cancers
PMID: 38347243
5
GBP4 is part of a sex-specific RNA biomarker signature for childhood tuberculosis diagnosis in females
PMID: 39039071
6
GBP4 expression is elevated in EBV-infected gastric cancer and involved in immune response and inflammation pathways
PMID: 40110195
7
GBP4 promoter hypomethylation characterizes oral and oropharyngeal squamous cell carcinoma compared to healthy tissue
PMID: 37175405
Disease Associationsⓘ20
bacterial diseaseOpen Targets
0.53Moderate
pathological myopiaOpen Targets
0.21Weak
Immunodeficiency due to a late component of complements deficiencyOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
infectionOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.07Suggestive
recurrent Neisseria infections due to factor D deficiencyOpen Targets
0.07Suggestive
immunodeficiency 28Open Targets
0.07Suggestive
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiencyOpen Targets
0.07Suggestive
varicella, severe recurrentOpen Targets
0.07Suggestive
candidiasis, familial, 4Open Targets
0.06Suggestive
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.06Suggestive
immunodeficiency 31BOpen Targets
0.06Suggestive
Susceptibility to viral and mycobacterial infectionsOpen Targets
0.06Suggestive
type II complement component 8 deficiencyOpen Targets
0.06Suggestive
Autosomal recessive hyper-IgE syndromeOpen Targets
0.06Suggestive
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiencyOpen Targets
0.06Suggestive
immunodeficiency 35Open Targets
0.06Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
STAT1Protein interaction100%CXCL10Protein interaction88%GBP5Protein interaction80%PARP14Protein interaction77%EPSTI1Protein interaction77%IFIT2Protein interaction74%
Tissue Expression6 tissues
Lung
100%
Heart
90%
Bone Marrow
53%
Ovary
44%
Liver
30%
Brain
13%
Gene Interaction Network
Click a node to explore
GBP4STAT1CXCL10GBP5PARP14EPSTI1IFIT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96PP9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.36LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.11 [0.91–1.36]
RankingsWhere GBP4 stands among ~20K protein-coding genes
  • #15,568of 20,598
    Most Researched15
  • #14,218of 17,882
    Most Constrained (LOEUF)1.36
Genes detectedGBP4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Guanylate-binding proteins convert cytosolic bacteria into caspase-4 signaling platforms.
PMID: 32541830
Nat Immunol · 2020
1.00
2
Whole-Genome DNA Methylation Profiling of Intrahepatic Cholangiocarcinoma Reveals Prognostic Subtypes with Distinct Biological Drivers.
PMID: 38471085
Cancer Res · 2024
0.90
3
DNA hypo-methylation and expression of GBP4 induces T cell exhaustion in pancreatic cancer.
PMID: 39110249
Cancer Immunol Immunother · 2024
0.80
4
Positive regulation of innate immune response by miRNA-let-7a-5p.
PMID: 36685889
Front Genet · 2022
0.70
5
Transcriptional and microbial profile of gastric cancer patients infected with Epstein-Barr virus.
PMID: 40110195
Front Oncol · 2025
0.60