MASP2
MBL-associated serine protease 2
Gene Information Card
| Symbol | MASP2 |
|---|---|
| Full Name | MBL associated serine protease 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 10747 ncbi.nlm.nih.gov/gene/10747 |
| Ensembl ID | ENSG00000131051 |
| UniProt ID | O00187 |
| OMIM ID | 605102 |
| HGNC ID | 6902 |
| Aliases | MASP-2, sMAP, MAp19 |
Description
MASP2 encodes the MBL-associated serine protease 2, a key enzyme in the lectin pathway of complement activation. It binds to mannose-binding lectin (MBL) and ficolins, cleaving C4 and C2 to form the C3 convertase. Alternative splicing produces two isoforms: the full-length MASP-2 and a truncated form (MAp19) of unknown function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| MASP2 deficiency (immunodeficiency) | Loss-of-function mutations impair lectin pathway activation, increasing susceptibility to infections. | ClinVar, OMIM #605102 |
| 3MC syndrome 3 | Biallelic MASP2 mutations disrupt complement activation, leading to craniofacial and skeletal anomalies. | OMIM #248340 |
| Autoimmune diseases (e.g., SLE) | Dysregulated MASP2 activity may contribute to complement-mediated tissue damage. | NCBI Gene, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Pancreas | 3.2 | Medium |
| Kidney | 1.8 | Low |
| Lung | 1.1 | Low |
| Spleen | 0.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocyte cell line, high expression |
| HEK293 | 2.5 | Embryonic kidney, moderate expression |
| A549 | 1.0 | Lung carcinoma, low expression |
| K562 | 0.5 | Leukemia, very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.359A>G (p.Asp120Gly) | Missense | 0.1% | Reduced MASP-2 activity, associated with deficiency |
| c.871C>T (p.Arg291Cys) | Missense | 0.05% | Impaired C4 cleavage, linked to 3MC syndrome |
| c.1050G>A (p.Trp350*) | Nonsense | <0.01% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most MASP2 mutations (e.g., p.Asp120Gly, p.Trp350*) reduce or abolish protease activity, leading to lectin pathway deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported in MASP2.
Dominant Negative (DN)
No dominant-negative effects documented; MASP2 deficiency is typically recessive.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • complement activation |
| • lectin pathway | • proteolysis |
| • extracellular region | • protein binding |
Pathways
• Lectin pathway of complement activation (Reactome: R-HSA-166662)
• Complement cascade (KEGG: hsa04610)
Protein Summary
MASP-2 is a 686-amino-acid serine protease composed of six domains: CUB1, EGF, CUB2, CCP1, CCP2, and the serine protease (SP) domain. It circulates in complex with MBL or ficolins. Upon pathogen recognition, MASP-2 autoactivates and cleaves C4 and C2, initiating the lectin pathway. The truncated isoform MAp19 (185 aa) lacks the SP domain and may regulate complement activation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MASP2 Knockout HEK293 Cell Line | EDJ-KQ7147 | Human | 10747 | Details Get a Quote |
| MASP2 Knockout HCT 116 Cell Line | EDJ-KQ32047 | Human | 10747 | Details Get a Quote |
| MASP2 Knockout HeLa Cell Line | EDJ-KQ32048 | Human | 10747 | Details Get a Quote |
| MASP2 Knockout A-549 Cell Line | EDJ-KQ63966 | Human | 10747 | Details Get a Quote |
