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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AGR2
anterior gradient 2, protein disulphide isomerase family member
Chromosome 7 Β· 7p21.1
NCBI Gene: 10551Ensembl: ENSG00000106541.13HGNC: HGNC:328UniProt: O95994
183PubMed Papers
21Diseases
0Drugs
8Pathogenic Variants
FUNCTIONAL ROLE
Oncogene
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
response to endoplasmic reticulum stressinflammatory responseendoplasmic reticulum unfolded protein responseprotein folding in endoplasmic reticulumrespiratory infections, recurrent, and failure to thrive with or without diarrheabronchiectasis with or without elevated sweat chloride 1bronchiectasis with or without elevated sweat chloride 2bronchiectasis with or without elevated sweat chloride 3
✦AI Summary

AGR2 is an endoplasmic reticulum (ER)-resident protein disulfide isomerase that plays critical roles in protein folding and mucus barrier function 1. The protein is essential for proper processing and secretion of gel-forming mucins, particularly MUC2, which forms the protective mucus layer in the gastrointestinal tract 23. AGR2 functions as a thioredoxin, catalyzing disulfide bond formation and assisting in protein quality control within the ER 4. Human AGR2 deficiency causes severe mucus barrier dysfunction, leading to infantile-onset inflammatory bowel disease characterized by goblet cell loss, reduced MUC2 expression, and increased ER stress 3. Beyond its physiological role, AGR2 acts as a proto-oncogene in various cancers, promoting cell migration, proliferation, and metastasis 56. In pancreatic cancer, secreted AGR2 activates cancer-associated fibroblasts through Wnt signaling, establishing a reciprocal signaling loop with IGF1 that promotes tumorigenesis 6. AGR2 expression is prevalent across multiple cancer types, particularly adenocarcinomas, and serves as both a diagnostic marker and prognostic indicator 7. The protein's dual role in maintaining intestinal homeostasis and promoting cancer progression makes it clinically significant for both rare genetic disorders and common malignancies.

Sources cited
1
AGR2 is a protein disulfide isomerase with thioredoxin-like domains that catalyzes disulfide bond formation
PMID: 24490732
2
AGR2 is secreted by goblet cells and is essential for mucus barrier function in the gastrointestinal tract
PMID: 24942678
3
Human AGR2 deficiency causes mucus barrier dysfunction, goblet cell loss, and infantile inflammatory bowel disease
PMID: 34237462
4
AGR2 assists in protein quality control in the ER and exists as both monomer and homodimer
PMID: 31644305
5
AGR2 acts as a proto-oncogene promoting breast cancer metastasis through transcriptional upregulation
PMID: 31856843
6
In pancreatic cancer, AGR2 establishes reciprocal signaling with IGF1 and activates cancer-associated fibroblasts
PMID: 39914384
7
AGR2 expression is prevalent across multiple cancer types and serves as diagnostic and prognostic marker
PMID: 39533806
Disease Associationsβ“˜21
respiratory infections, recurrent, and failure to thrive with or without diarrheaOpen Targets
0.67Moderate
bronchiectasis with or without elevated sweat chloride 1Open Targets
0.50Moderate
bronchiectasis with or without elevated sweat chloride 2Open Targets
0.50Moderate
bronchiectasis with or without elevated sweat chloride 3Open Targets
0.50Moderate
Chronic diarrheaOpen Targets
0.46Moderate
chronic diarrheal diseaseOpen Targets
0.46Moderate
alcohol drinkingOpen Targets
0.34Weak
EpiphoraOpen Targets
0.31Weak
cutaneous melanomaOpen Targets
0.16Weak
skin cancerOpen Targets
0.13Weak
neoplasmOpen Targets
0.12Weak
placental retentionOpen Targets
0.11Weak
preeclampsiaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
melanomaOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
lung adenocarcinomaOpen Targets
0.10Weak
skin neoplasmOpen Targets
0.10Suggestive
actinic keratosisOpen Targets
0.10Suggestive
Respiratory infections, recurrent, and failure to thrive with or without diarrheaUniProt
Pathogenic Variants8
NM_006408.4(AGR2):c.162G>A (p.Trp54Ter)Likely pathogenic
Respiratory ciliopathies including non-CF bronchiectasis
β˜…β˜†β˜†β˜†2025β†’ Residue 54
NM_006408.4(AGR2):c.257-1G>CLikely pathogenic
Respiratory ciliopathies including non-CF bronchiectasis
β˜…β˜†β˜†β˜†2025
NM_006408.4(AGR2):c.104del (p.Asp35fs)Likely pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
β˜…β˜†β˜†β˜†2024β†’ Residue 35
NM_006408.4(AGR2):c.211C>A (p.Pro71Thr)Likely pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
β˜…β˜†β˜†β˜†2024β†’ Residue 71
NM_006408.4(AGR2):c.349C>T (p.His117Tyr)Likely pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
β˜…β˜†β˜†β˜†2024β†’ Residue 117
NM_006408.4(AGR2):c.256+2T>CLikely pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea|AGR2-related disorder
β˜…β˜†β˜†β˜†2023
NM_006408.4(AGR2):c.330+1G>TPathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
β˜†β˜†β˜†β˜†2023
NM_006408.4(AGR2):c.428G>A (p.Gly143Glu)Pathogenic
Respiratory infections, recurrent, and failure to thrive with or without diarrhea
β˜†β˜†β˜†β˜†2023β†’ Residue 143
View on ClinVar β†—
Related Genes
ESR1Protein interaction100%LYPD3Protein interaction98%FOXA1Protein interaction85%TFF1Protein interaction85%TFF3Protein interaction85%MUC5ACProtein interaction79%
Tissue Expression6 tissues
Lung
100%
Liver
3%
Brain
2%
Ovary
1%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
AGR2ESR1LYPD3FOXA1TFF1TFF3MUC5AC
PROTEIN STRUCTURE
Preparing viewer…
PDB2LNS Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.34LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.66–1.34]
RankingsWhere AGR2 stands among ~20K protein-coding genes
  • #2,359of 20,598
    Most Researched183 Β· top quartile
  • #3,034of 5,498
    Most Pathogenic Variants8
  • #14,027of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedAGR2
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
LINC02273 drives breast cancer metastasis by epigenetically increasing AGR2 transcription.
PMID: 31856843
Mol Cancer Β· 2019
1.00
2
Disrupting AGR2/IGF1 paracrine and reciprocal signaling for pancreatic cancer therapy.
PMID: 39914384
Cell Rep Med Β· 2025
0.90
3
Gut Dysbiosis Drives Inflammatory Bowel Disease Through the CCL4L2-VSIR Axis in Glycogen Storage Disease.
PMID: 38889269
Adv Sci (Weinh) Β· 2024
0.80
4
The mucus and mucins of the goblet cells and enterocytes provide the first defense line of the gastrointestinal tract and interact with the immune system.
PMID: 24942678
Immunol Rev Β· 2014
0.80
5
Integrative multi-omics and drug-response characterization of patient-derived prostate cancer primary cells.
PMID: 37121942
Signal Transduct Target Ther Β· 2023
0.76