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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GBP6
guanylate binding protein family member 6
Chromosome 1 · 1p22.2
NCBI Gene: 163351Ensembl: ENSG00000183347.16HGNC: HGNC:25395UniProt: B4DRX0
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular exosomeimmune responsedefense response to bacteriumbacterial diseasetype 2 diabetes mellitusthyroiditisresponse to xenobiotic stimulus
✦AI Summary

GBP6 is an interferon-inducible GTPase that functions as a key component of innate immunity against diverse pathogens. As a member of the guanylate-binding protein family, GBP6 exhibits GTPase activity and GTP binding capability, localizing to cytoplasmic compartments and extracellular exosomes 1. The protein plays critical roles in defense responses to bacterial pathogens and protozoan infections, with recent evidence demonstrating its involvement in trained immunity following mycobacterial infection, where infection-induced epigenetic changes at the Gbp6 locus are conserved from hematopoietic stem cells to differentiated monocytes 2. Clinically, GBP6 serves as a robust diagnostic and prognostic biomarker across multiple disease contexts. In tuberculosis, GBP6 expression distinguishes active pulmonary TB from other respiratory diseases and latent TB infection from healthy controls 3, with sex-specific GBP6 signatures showing 85% sensitivity and 70% specificity in pediatric TB diagnosis 4. GBP6 is significantly upregulated in inclusion body myositis compared to polymyositis with mitochondrial pathology, marking type II interferon-induced inflammation 1. Paradoxically, GBP6 shows tumor-suppressive functions in epithelial malignancies. Low GBP6 expression correlates with poor prognosis in tongue squamous cell carcinoma and esophageal carcinoma, with loss of GBP6 promoting epithelial-mesenchymal transition and cell cycle acceleration 5 6 7. These findings position GBP6 as a multifunctional immune-oncology biomarker with distinct roles in pathogen defense and cancer progression.

Sources cited
1
GBP6 exhibits high differentiative ability for active TB from other respiratory diseases and latent TB infection from healthy controls
PMID: 39505948
2
GBP6 is an IFN-induced guanylate-binding protein significantly upregulated in inclusion body myositis compared to polymyositis with mitochondrial pathology
PMID: 36195449
3
Low GBP6 expression in esophageal carcinoma is associated with poor prognosis, worse grade, and TNM stage; GBP6 knockdown inhibits cell proliferation and induces cell cycle arrest
PMID: 40560853
4
GBP6 is one of few loci showing conserved infection-induced epigenetic changes from hematopoietic stem cells to monocytes following mycobacterial infection; GBP6-KO disrupts mitochondrial respiration
PMID: 41364527
5
GBP6 is a sex-specific RNA biomarker for female pediatric TB diagnosis, achieving 85% sensitivity and 70% specificity
PMID: 39039071
6
Low GBP6 expression correlates with poor cell differentiation, lymph node metastasis, and poor disease-specific survival in tongue squamous cell carcinoma
PMID: 31707626
7
GBP6 loss promotes esophageal squamous cell carcinoma progression by accelerating cell cycle and inducing epithelial-mesenchymal transition; PARP1 inhibition rescues GBP6 loss
PMID: 41504491
8
GBP6 is evolutionarily conserved across bat species, with evidence of duplication events creating GBP6a and GBP6b variants
PMID: 38357541
Disease Associationsⓘ20
bacterial diseaseOpen Targets
0.46Moderate
type 2 diabetes mellitusOpen Targets
0.33Weak
thyroiditisOpen Targets
0.27Weak
response to xenobiotic stimulusOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
Townes-Brocks syndromeOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
esophageal squamous cell carcinomaOpen Targets
0.02Suggestive
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.02Suggestive
oral squamous cell carcinomaOpen Targets
0.02Suggestive
chronic kidney diseaseOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
inclusion body myositisOpen Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
Barrett's esophagusOpen Targets
0.01Suggestive
tongue squamous cell carcinomaOpen Targets
0.01Suggestive
leukemiaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GBP4Shared pathway60%GBP2Shared pathway38%GBP7Shared pathway33%LYG2Shared pathway33%MR1Shared pathway29%LYSTShared pathway25%
Tissue Expression6 tissues
Ovary
100%
Liver
58%
Brain
52%
Lung
45%
Bone Marrow
29%
Heart
0%
Gene Interaction Network
Click a node to explore
GBP6GBP4GBP2GBP7LYG2MR1LYST
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6ZN66
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.83 [0.67–1.05]
RankingsWhere GBP6 stands among ~20K protein-coding genes
  • #13,422of 20,598
    Most Researched23
  • #10,525of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedGBP6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Specific human gene expression in response to infection is an effective marker for diagnosis of latent and active tuberculosis.
PMID: 39505948
Sci Rep · 2024
1.00
2
Morphologic and Molecular Patterns of Polymyositis With Mitochondrial Pathology and Inclusion Body Myositis.
PMID: 36195449
Neurology · 2022
0.90
3
Identification of GBP6 as a potential prognostic biomarker in esophageal carcinoma by integrated bioinformatics analysis and experiment validation.
PMID: 40560853
Ann Med · 2025
0.80
4
Rare epigenetic alterations are conserved across hematopoietic differentiation stages after mycobacterial infection.
PMID: 41364527
JCI Insight · 2026
0.70
5
Sex-specific blood-derived RNA biomarkers for childhood tuberculosis.
PMID: 39039071
Sci Rep · 2024
0.60