MASP2

Chr 1p36.22

MBL associated serine protease 2

Aliases:: Map19, sMAP, MAP-2
MANE:: ENST00000400897.8

OMIM: 605102 ↗NCBI: 10747 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MASP2 · O00187

v62025-08-01

Predicted Aligned Error matrix for MASP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

89.4/ 100

Confident

686 residues

Confidence breakdown

Very high(≥ 90)73%
Confident(70–90)21%
Low(50–70)2%
Very low(< 50)4%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Infantile enterocolitis & monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

immunodeficiency due to MASP-2 deficiency
0.68
amyotrophic lateral sclerosis
0.57
frontotemporal dementia with motor neuron disease
0.57
motor neuron disorder
0.44
COVID-19
0.39
complement deficiency
0.37
Increased total eosinophil count
0.33
atypical hemolytic-uremic syndrome
0.33
neurodegenerative disease
0.29
frontotemporal dementia
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mannan-binding lectin serine protease 2

Precursor of a serum protease that activates the lectin pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the adaptive immune system (PubMed:11527969, PubMed:22691502). The lectin complement system is activated following association of lectins, such as MBL2, FCN1, FCN2 or FCN3, to carbohydrates on the pathogen surface (PubMed:22691502, PubMed:22966085). MASP2 is cleaved and activated by MASP1 in response to lectin-binding to pathogen carbohydrates (PubMed:10946292, PubMed:22949645, PubMed:22966085, PubMed:9087411). Can activate prothrombin to thrombin (PubMed:39924859)