AGR2 (Anterior Gradient 2, Protein Disulfide Isomerase Family Member)
A key regulator of mucus production, cell migration, and cancer progression
Gene Information Card
| Symbol | AGR2 |
|---|---|
| Full Name | Anterior Gradient 2, Protein Disulfide Isomerase Family Member |
| Gene Type | protein-coding |
| Chromosomal Location | 7p21.3 |
| NCBI Gene ID | 10551 ncbi.nlm.nih.gov/gene/10551 |
| Ensembl ID | ENSG00000106541 |
| UniProt ID | O95994 |
| OMIM ID | 606358 |
| HGNC ID | 325 |
| Aliases | AG2, GOB-4, HAG-2, PDIA17 |
Description
AGR2 encodes a protein disulfide isomerase (PDI) family member localized to the endoplasmic reticulum. It is involved in protein folding, particularly of mucins, and plays roles in cell migration, differentiation, and survival. AGR2 is overexpressed in several cancers and is associated with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes cell proliferation and metastasis via ERK and AKT signaling | PMID: 23454750 |
| Prostate cancer | AGR2 upregulation correlates with androgen receptor activity and tumor progression | PMID: 25605245 |
| Lung adenocarcinoma | High expression linked to epithelial-mesenchymal transition and chemoresistance | PMID: 27535984 |
| Inflammatory bowel disease | Reduced AGR2 expression impairs mucus barrier function, contributing to colitis | PMID: 23376921 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Colon | 48.2 | High |
| Stomach | 35.1 | High |
| Lung | 12.4 | Medium |
| Breast | 8.9 | Medium |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 62.5 | Overexpressed |
| A549 (lung cancer) | 28.3 | Moderate expression |
| HT-29 (colon cancer) | 55.1 | High expression |
| HEK293 (embryonic kidney) | 3.4 | Low baseline |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1?) | Missense | <0.1% | Likely loss of function; reported in ClinVar |
| c.313G>A (p.Gly105Ser) | Missense | <0.1% | Uncertain significance; COSMIC ID COSM4491232 |
| c.424C>T (p.Arg142Cys) | Missense | <0.1% | Reported in COSMIC; potential gain of function in cancer |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss) impair mucin folding and barrier function, linked to IBD.
Gain of Function (GOF)
Gain-of-function mutations (e.g., Arg142Cys) may enhance oncogenic signaling in breast and lung cancers.
Dominant Negative (DN)
No dominant-negative mutations currently documented in ClinVar or COSMIC.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003756 - protein disulfide isomerase activity | • GO:0005783 - endoplasmic reticulum |
| • GO:0030199 - collagen fibril organization | • GO:0043066 - negative regulation of apoptotic process |
| • GO:0050821 - protein stabilization |
Pathways
• Unfolded Protein Response (UPR)
• ER to Golgi vesicle-mediated transport
• Integrin signaling pathway
Protein Summary
AGR2 is a 17 kDa protein disulfide isomerase localized to the endoplasmic reticulum. It catalyzes disulfide bond formation and rearrangement, critical for proper folding of mucins and other secretory proteins. AGR2 also functions as a chaperone and is secreted, where it can modulate cell adhesion and signaling. Overexpression in tumors promotes metastasis and chemoresistance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AGR2 Knockout HEK293 Cell Line | EDJ-KQ12312 | Human | 10551 | Details Get a Quote |
| AGR2 Knockout A-549 Cell Line | EDJ-KQ24936 | Human | 10551 | Details Get a Quote |
| AGR2 Knockout HeLa Cell Line | EDJ-KQ41148 | Human | 10551 | Details Get a Quote |
| AGR2 Knockout HCT 116 Cell Line | EDJ-KQ72367 | Human | 10551 | Details Get a Quote |
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