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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. [provided by RefSeq, Feb 2016]
MASP2 (Mannan Binding Lectin Serine Peptidase 2) is a Protein Coding gene. Diseases associated with MASP2 include Masp2 Deficiency and Rheumatic Fever. Among its related pathways are Innate Immune System and Complement and coagulation cascades. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is MASP1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001855 | complement component C4b binding | IDA | 22949645 |
GO:0004252 | serine-type endopeptidase activity | IBA,IDA | 9087411 |
GO:0005509 | calcium ion binding | IEA | -- |
GO:0005515 | protein binding | IPI | 10946292 |
GO:0008233 | peptidase activity | IEA,IDA | 10946292 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IBA | 21873635 |
GO:0070062 | extracellular exosome | HDA | 19056867 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Creation of C4 and C2 activators | ||
2 | Complement Pathway |
Complement Pathway
.62
|
Lectin Induced Complement Pathway
.01
|
3 | Complement and coagulation cascades | ||
4 | Innate Immune System |
.61
|
|
5 | Staphylococcus aureus infection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001867 | complement activation, lectin pathway | TAS | -- |
GO:0002376 | immune system process | IEA | -- |
GO:0006508 | proteolysis | IEA | -- |
GO:0006956 | complement activation | TAS | -- |
GO:0006958 | complement activation, classical pathway | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||
SP3: | - | ||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MASP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MASP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Masp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Masp2 30 |
|
||
Dog (Canis familiaris) |
Mammalia | MASP2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MASP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MASP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MASP2 30 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | masp2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | masp2 30 31 |
|
OneToOne | |
Dr.17391 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
CSA.10613 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708053 | Benign: not provided | 11,046,598(-) | C/T | MISSENSE_VARIANT | |
716795 | Benign: not provided | 11,047,087(-) | G/A | MISSENSE_VARIANT | |
729733 | Benign: MASP2 deficiency; not provided | 11,042,883(-) | G/A | MISSENSE_VARIANT | |
786449 | Benign: MASP2 deficiency; not provided | 11,047,092(-) | A/G | SYNONYMOUS_VARIANT | |
873851 | Uncertain Significance: MASP2 deficiency; Amyotrophic lateral sclerosis type 10 | 11,024,777(-) | T/C | THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv106n54 | CNV | loss | 21841781 |
esv25881 | CNV | gain+loss | 19812545 |
esv2660954 | CNV | deletion | 23128226 |
esv2743741 | CNV | deletion | 23290073 |
esv3585212 | CNV | loss | 21293372 |
nsv1133809 | CNV | deletion | 24896259 |
nsv545407 | CNV | gain | 21841781 |
nsv545408 | CNV | gain | 21841781 |
nsv545411 | CNV | gain | 21841781 |
nsv832425 | CNV | loss | 17160897 |
nsv953456 | CNV | deletion | 24416366 |
nsv956625 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
masp2 deficiency |
|
|
rheumatic fever |
|
|
mannose-binding lectin deficiency |
|
|
sporotrichosis |
|
|
hereditary angioedema |
|
|