LRG1: Leucine-Rich Alpha-2-Glycoprotein 1
A secreted glycoprotein involved in angiogenesis, TGF-β signaling, and inflammatory responses.
Gene Information Card
| Symbol | LRG1 |
|---|---|
| Full Name | Leucine-Rich Alpha-2-Glycoprotein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 116844 ncbi.nlm.nih.gov/gene/116844 |
| Ensembl ID | ENSG00000171236 |
| UniProt ID | P02750 |
| OMIM ID | 618077 |
| HGNC ID | 6712 |
| Aliases | LRG, HMFT1766 |
Description
LRG1 encodes a secreted glycoprotein belonging to the leucine-rich repeat family. It is involved in protein-protein interactions, signal transduction, and cell adhesion. LRG1 modulates TGF-β signaling by binding to the TGF-β receptor complex, promoting angiogenesis under pathological conditions. It is also implicated in inflammatory responses and is used as a biomarker for various diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neovascular age-related macular degeneration | LRG1 promotes pathological angiogenesis via TGF-β signaling | PMID: 23396210 |
| Diabetic retinopathy | Upregulated LRG1 contributes to retinal neovascularization | PMID: 23396210 |
| Colorectal cancer | LRG1 overexpression associated with tumor progression and poor prognosis | PMID: 25670082 |
| Hepatocellular carcinoma | LRG1 promotes invasion and metastasis through TGF-β pathway | PMID: 28209947 |
| Inflammatory bowel disease | LRG1 elevated in serum and correlates with disease activity | PMID: 26048027 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 123.4 | High |
| Lung | 45.6 | Medium |
| Kidney | 32.1 | Medium |
| Heart | 12.3 | Low |
| Brain | 5.6 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 89.2 | Hepatocellular carcinoma cell line |
| A549 | 67.8 | Lung adenocarcinoma cell line |
| HEK293 | 23.4 | Embryonic kidney cells |
| HUVEC | 15.6 | Endothelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.544G>A (p.Gly182Arg) | Missense | Rare | Unknown functional impact |
| c.763C>T (p.Arg255Cys) | Missense | Rare | Reported in ClinVar as uncertain significance |
| c.1021G>A (p.Gly341Ser) | Missense | Rare | No known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in LRG1.
Gain of Function (GOF)
Overexpression of wild-type LRG1 is associated with pathological angiogenesis; no activating mutations described.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (Reactome: R-HSA-170834)
• Angiogenesis (KEGG: hsa04370)
Protein Summary
LRG1 is a 347-amino-acid secreted glycoprotein with a molecular weight of approximately 38 kDa. It contains eight leucine-rich repeats (LRRs) flanked by cysteine-rich domains. The protein is primarily expressed in liver and secreted into plasma. LRG1 binds to the TGF-β receptor complex (ALK1/ENG) to enhance TGF-β signaling, promoting endothelial cell proliferation and angiogenesis. It also interacts with integrins and modulates immune responses. Elevated serum LRG1 is a biomarker for inflammatory diseases and certain cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LRG1 Knockout HEK293 Cell Line | EDJ-KQ3415 | Human | 116844 | Details Get a Quote |
| LRG1 Knockout HeLa Cell Line | EDJ-KQ57998 | Human | 116844 | Details Get a Quote |
| LRG1 Knockout A-549 Cell Line | EDJ-KQ66485 | Human | 116844 | Details Get a Quote |
| LRG1 Knockout HCT 116 Cell Line | EDJ-KQ74908 | Human | 116844 | Details Get a Quote |
