MBL2 Gene: Mannose Binding Lectin 2
Key regulator of the lectin complement pathway and innate immunity
Gene Information Card
| Symbol | MBL2 |
|---|---|
| Full Name | Mannose Binding Lectin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q21.1 |
| NCBI Gene ID | 4153 ncbi.nlm.nih.gov/gene/4153 |
| Ensembl ID | ENSG00000165471 |
| UniProt ID | P11226 |
| OMIM ID | 154545 |
| HGNC ID | 6922 |
| Aliases | MBL, MBP1, MBP-C, COLEC1 |
Description
The MBL2 gene encodes mannose-binding lectin (MBL), a soluble pattern recognition molecule of the innate immune system. MBL binds to carbohydrate patterns on microbial surfaces and activates the lectin complement pathway via MBL-associated serine proteases (MASPs). It plays a critical role in first-line host defense and modulates inflammation. Genetic polymorphisms in MBL2 influence serum MBL levels and are associated with susceptibility to infections and autoimmune diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mannose-binding lectin deficiency | Reduced functional MBL due to promoter and coding region variants impair complement activation | ClinVar, OMIM |
| Recurrent infections (respiratory, gastrointestinal) | Low MBL levels compromise opsonization and pathogen clearance | NCBI Gene, ClinVar |
| Systemic lupus erythematosus | MBL deficiency may impair clearance of apoptotic debris and immune complexes | OMIM, PubMed |
| Rheumatoid arthritis | MBL variants associated with disease severity and joint inflammation | OMIM, PubMed |
| Crohn's disease | MBL deficiency linked to altered mucosal immunity and gut inflammation | ClinVar, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Pancreas | 0.8 | Low |
| Kidney | 0.3 | Not detected |
| Lung | 0.2 | Not detected |
| Small intestine | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Hepatocellular carcinoma cell line |
| Huh-7 | 11.8 | Hepatoma cell line |
| Primary hepatocytes | 10.5 | Normal liver cells |
| THP-1 | 0.1 | Monocytic cell line (undifferentiated) |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1800450 (G54D) | Missense | Common (allele frequency ~0.12 in Europeans) | Disrupts collagen-like domain, reduces MBL oligomerization and function |
| rs1800451 (G57E) | Missense | Rare (allele frequency <0.01) | Similar structural defect, loss of function |
| rs5030737 (R52C) | Missense | Rare (allele frequency ~0.05) | Impairs MBL assembly and secretion |
| rs11003125 (-550 H/L) | Promoter SNP | Common | Affects promoter activity and serum MBL levels |
| rs7096206 (-221 X/Y) | Promoter SNP | Common | Modulates transcription efficiency |
Mutation functional classification
Loss of Function (LOF)
Coding variants (G54D, G57E, R52C) disrupt collagen helix formation, impairing MBL oligomerization and complement activation.
Gain of Function (GOF)
No well-established gain-of-function mutations reported.
Dominant Negative (DN)
Heterozygous coding variants can reduce functional MBL levels in a dominant-negative manner due to impaired multimerization.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Lectin complement activation pathway (Reactome: R-HSA-166658)
• Complement cascade (KEGG: hsa04610)
• Innate immune system (Reactome: R-HSA-168249)
Protein Summary
Mannose-binding lectin (MBL) is a 248-amino acid protein synthesized primarily in the liver. It forms oligomeric structures (trimers to hexamers) that recognize carbohydrate patterns on pathogens. MBL circulates in complex with MASP-1 and MASP-2; upon binding to microbial surfaces, it triggers the lectin complement pathway, leading to opsonization, inflammation, and pathogen lysis. Serum MBL levels vary widely due to common genetic polymorphisms, influencing individual susceptibility to infections and autoimmune conditions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MBL2 Knockout HEK293 Cell Line | EDJ-KQ2402 | Human | 4153 | Details Get a Quote |
| MBL2 Knockout HeLa Cell Line | EDJ-KQ53847 | Human | 4153 | Details Get a Quote |
| MBL2 Knockout A-549 Cell Line | EDJ-KQ62333 | Human | 4153 | Details Get a Quote |
| MBL2 Knockout HCT 116 Cell Line | EDJ-KQ70808 | Human | 4153 | Details Get a Quote |
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