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GeneE
25 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.
MASP2
MBL associated serine protease 2
Chromosome 1 Β· 1p36.22
NCBI Gene: 10747Ensembl: ENSG00000009724.18HGNC: HGNC:6902UniProt: A0A8V8TPN9
166PubMed Papers
21Diseases
1Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Trending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
serine-type endopeptidase activityGolgi apparatusprotein bindingextracellular exosomeimmunodeficiency due to MASP-2 deficiencyfrontotemporal dementia with motor neuron diseasefamilial amyotrophic lateral sclerosisamyotrophic lateral sclerosis
✦AI Summary

MASP2 encodes a serine protease that serves as a key effector enzyme in the lectin pathway of complement activation, catalyzing cleavage and activation of complement components C2 and C4 1. As the effector component of mannose-binding lectin (MBL), MASP2 activates the complement system in an antibody-independent manner 2. The protein functions through calcium-dependent protein binding and exhibits serine-type endopeptidase activity in the extracellular region. MASP2 deficiency can lead to increased susceptibility to pyogenic infections and autoimmunity, though some individuals may remain asymptomatic 1. The gene shows significant disease relevance, with elevated serum MASP2 levels observed in systemic lupus erythematosus patients and demonstrating good diagnostic ability for lupus 3. Multiple genetic polymorphisms in MASP2 are associated with susceptibility to various conditions, including tuberculosis 4, HTLV-1 infection 2, and systemic lupus erythematosus 3. Clinically, MASP2 inhibition represents a therapeutic target, with narsoplimab (a MASP-2 inhibitor) showing efficacy in treating hematopoietic stem-cell transplantation-associated thrombotic microangiopathy and receiving FDA Breakthrough Therapy Designation 56. The protein is also being investigated as a potential therapeutic target in IgA nephropathy through lectin pathway complement inhibition 7.

Sources cited
1
MASP2 is a serine protease in the lectin complement pathway that can lead to pyogenic infections and autoimmunity when deficient
PMID: 39294906
2
MASP2 is the effector part of MBL that activates complement in an antibody-independent manner
PMID: 35924689
3
Elevated serum MASP2 levels are observed in SLE patients with good diagnostic ability
PMID: 32677764
4
MASP2 gene polymorphisms are associated with tuberculosis susceptibility
PMID: 33753877
5
Narsoplimab, a MASP-2 inhibitor, shows efficacy in treating HSCT-associated thrombotic microangiopathy
PMID: 35439028
6
Narsoplimab received FDA Breakthrough Therapy Designation for TA-TMA treatment
PMID: 36674666
7
MASP-2 is being investigated as a therapeutic target in IgA nephropathy through lectin pathway inhibition
PMID: 39188719
Disease Associationsβ“˜21
immunodeficiency due to MASP-2 deficiencyOpen Targets
0.70Moderate
amyotrophic lateral sclerosisOpen Targets
0.57Moderate
familial amyotrophic lateral sclerosisOpen Targets
0.57Moderate
frontotemporal dementia with motor neuron diseaseOpen Targets
0.57Moderate
motor neuron diseaseOpen Targets
0.44Moderate
COVID-19Open Targets
0.38Weak
complement deficiencyOpen Targets
0.37Weak
Increased total eosinophil countOpen Targets
0.34Weak
frontotemporal dementiaOpen Targets
0.33Weak
atypical hemolytic-uremic syndromeOpen Targets
0.32Weak
IGA glomerulonephritisOpen Targets
0.30Weak
thrombotic microangiopathyOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.29Weak
genetic disorderOpen Targets
0.19Weak
amyotrophic lateral sclerosis, dominantOpen Targets
0.17Weak
systemic lupus erythematosusOpen Targets
0.10Suggestive
rheumatoid arthritisOpen Targets
0.08Suggestive
pneumococcal meningitisOpen Targets
0.08Suggestive
Autoimmune HepatitisOpen Targets
0.07Suggestive
common variable immunodeficiencyOpen Targets
0.07Suggestive
MASP2 deficiencyUniProt
Pathogenic Variants3
NM_006610.4(MASP2):c.1126C>T (p.Arg376Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 376
NM_006610.4(MASP2):c.1515_1516dup (p.Ser506fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 506
NM_006610.4(MASP2):c.716C>G (p.Thr239Ser)Likely pathogenic
Immunodeficiency due to MASP-2 deficiency
β˜†β˜†β˜†β˜†2025β†’ Residue 239
View on ClinVar β†—
Drug Targets1
NARSOPLIMABPhase III
Mannan-binding lectin serine protease 2 inhibitor
atypical hemolytic-uremic syndrome
Related Genes
C1QBProtein interaction100%KIR3DL1Protein interaction99%KIR2DL5BProtein interaction99%SERPING1Protein interaction91%C3Protein interaction91%C4AProtein interaction91%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
5%
Ovary
2%
Lung
1%
Brain
1%
Heart
1%
Gene Interaction Network
Click a node to explore
MASP2C1QBKIR3DL1KIR2DL5BSERPING1C3C4A
PROTEIN STRUCTURE
Preparing viewer…
PDB3TVJ Β· 1.28 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.16LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.89 [0.69–1.16]
RankingsWhere MASP2 stands among ~20K protein-coding genes
  • #2,691of 20,598
    Most Researched166 Β· top quartile
  • #3,950of 5,498
    Most Pathogenic Variants3
  • #12,105of 17,882
    Most Constrained (LOEUF)1.16
Genes detectedMASP2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Contemporary review of IgA nephropathy.
PMID: 39188719
Front Immunol Β· 2024
1.00
2
Immunodeficiency: Complement disorders.
PMID: 39294906
Allergy Asthma Proc Β· 2024
0.90
3
Narsoplimab, a Mannan-Binding Lectin-Associated Serine Protease-2 Inhibitor, for the Treatment of Adult Hematopoietic Stem-Cell Transplantation-Associated Thrombotic Microangiopathy.
PMID: 35439028
J Clin Oncol Β· 2022
0.80
4
Transplant-Associated Thrombotic Microangiopathy in the Context of Allogenic Hematopoietic Stem Cell Transplantation: Where We Stand.
PMID: 36674666
Int J Mol Sci Β· 2023
0.70
5
COVID-19, Pre-Eclampsia, and Complement System.
PMID: 34868042
Front Immunol Β· 2021
0.60