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MASP2

Synonyms
MAP-2, MAP19, MASP-2, MASP1P1, sMAP
External resources
Summary
This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
55
Likely pathogenic
0
VUS
1,489
Likely benign
1,770
Benign
247

Patient Phenotypes

Proportions of phenotypes among 46 patients carrying pathogenic or likely pathogenic variants on MASP2 gene are displayed below. The following symptoms were found in patients with a variant in MASP2. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
47.8%
Abnormality of the nervous system
47.8%
Abnormality of head or neck
41.3%
Abnormality of the eye
39.1%
Abnormality of the integument
28.3%
Growth abnormality
28.3%
Abnormality of limbs
26.1%
Abnormality of the ear
17.4%
Abnormality of the cardiovascular system
15.2%
Abnormality of the digestive system
13%
Abnormality of the immune system
10.9%
Abnormality of metabolism homeostasis
8.7%
Abnormality of prenatal development or birth
8.7%
Abnormality of the respiratory system
8.7%
Abnormality of blood and blood forming tissues
4.3%
Abnormality of the endocrine system
2.2%
Abnormality of the genitourinary system
2.2%
Abnormal cellular phenotype
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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