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MBL associated serine protease 2

Summary

Gene Symbol

MASP2

Aliases

MAP-2
Map19
mannose-binding lectin associated protein 19
mannose-binding lectin-associated serine protease 2
sMAP

Organism

Homo sapiens (human)

External Links

NCBI Gene

10747

HGNC

6902

KEGG Gene ID

hsa:10747

PubChem

10747

Alliance of Genome Resources

HGNC:6902

Annotation

Keyword

3D-structure
Alternative splicing
Autocatalytic cleavage
Calcium
Complement pathway
Direct protein sequencing
Disease variant
Disulfide bond
EGF-like domain
Hydroxylation
Metal-binding
Proteomics identification
Reference proteome
Repeat
Secreted
Serine protease
Signal
Sushi

Proteins

Displaying **all 2** entries
UniProt	Protein Name
O00187	MBL-associated serine protease 2 Mannose-binding protein-associated serine protease 2
A0A8V8TQY3

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 3** entries
GO Term	Evidence Code	PMID
complement activation, classical pathway	IEA
complement activation, lectin pathway	IBA IDA	17182967 9087411
proteolysis	IEA

GO Hierarchy

biological process

immune system process [inference]

immune effector process [inference]

complement activation [inference]

activation of immune response [inference]

complement activation [inference]

immune response [inference]

humoral immune response [inference]

complement activation [inference]

innate immune response [inference]

complement activation, lectin pathway

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

proteolysis

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis

biological process involved in interspecies interaction between organisms [inference]

response to other organism [inference]

defense response to other organism [inference]

innate immune response [inference]

complement activation, lectin pathway

response to stimulus [inference]

response to stress [inference]

defense response [inference]

defense response to other organism [inference]

innate immune response [inference]

complement activation, lectin pathway

immune response [inference]

humoral immune response [inference]

complement activation [inference]

innate immune response [inference]

complement activation, lectin pathway

response to external stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

defense response to other organism [inference]

innate immune response [inference]

complement activation, lectin pathway

response to biotic stimulus [inference]

response to external biotic stimulus [inference]

response to other organism [inference]

defense response to other organism [inference]

innate immune response [inference]

complement activation, lectin pathway

biological regulation [inference]

regulation of biological process [inference]

regulation of immune system process [inference]

positive regulation of immune system process [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

regulation of immune response [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

positive regulation of biological process [inference]

positive regulation of immune system process [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

positive regulation of response to stimulus [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

regulation of response to stimulus [inference]

positive regulation of response to stimulus [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

regulation of immune response [inference]

positive regulation of immune response [inference]

activation of immune response [inference]

complement activation [inference]

Displaying **all 3** entries
GO Term	Evidence Code	PMID
extracellular region
extracellular space	IBA
extracellular exosome	HDA	19056867 23533145

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
peptidase activity	IDA	10946292 12538697
serine-type endopeptidase activity	IBA IDA	9087411
calcium ion binding	IEA
calcium-dependent protein binding	IPI	12421953
complement component C4b binding	IDA	22949645

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

peptidase activity

endopeptidase activity [inference]

serine-type endopeptidase activity

serine-type peptidase activity [inference]

serine-type endopeptidase activity

serine hydrolase activity [inference]

serine-type peptidase activity [inference]

serine-type endopeptidase activity

catalytic activity, acting on a protein [inference]

peptidase activity

endopeptidase activity [inference]

serine-type endopeptidase activity

serine-type peptidase activity [inference]

serine-type endopeptidase activity

binding [inference]

protein binding

opsonin binding [inference]

complement component C4b binding

complement binding [inference]

complement component C4b binding

calcium-dependent protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

Gene Ontology information from NCBI Gene and UniProt.

KEGG BRITE Database

Orthology

K03993

Name

mannan-binding lectin serine protease 2 [EC:3.4.21.104]

References

Disease

Disease Ontology

Displaying entries **1 - 10** of **109** in total

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DO ID	Disease Name	Source
DOID:0040084	Streptococcus pneumonia	DisGeNET
DOID:0040085	bacterial sepsis	DisGeNET
DOID:0050185	erythema multiforme	DisGeNET
DOID:0050426	Stevens-Johnson syndrome	DisGeNET
DOID:0050589	inflammatory bowel disease	DisGeNET DisGeNET
DOID:0050700	cardiomyopathy	DisGeNET
DOID:0050745	diffuse large B-cell lymphoma	DisGeNET
DOID:0050873	follicular lymphoma	DisGeNET
DOID:0060058	lymphoma	DisGeNET
DOID:0060060	non-Hodgkin lymphoma	DisGeNET

The Human Phenotype Ontology

Displaying **all 6** entries
HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0002725	Systemic lupus erythematosus
HP:0004431	Complement deficiency
HP:0004431	Reduced circulating complement concentration
HP:0006532	Recurrent pneumonia
HP:0100279	Ulcerative colitis

Displaying 1 entry
Disease ID	Disease Name
OMIM:613791	immunodeficiency due to MASP-2 deficiency

PubChem Disease

MedGen Diseases

Immunodeficiency due to MASP-2 deficiency

OMIM Phenotypes

MASP2 DEFICIENCY

KEGG Diseases

Mannose-binding lectin pathway component defects

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 51 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Latimeria chalumnae	102360645		LATCH14938
Danio rerio	560277	ZFIN:ZDB-GENE-060130-154	DANRE24161
Astyanax mexicanus	103023364		ASTMX04787
Ictalurus punctatus	108276220		ICTPU08117
Electrophorus electricus	113581290		ELEEL28004
Xenopus laevis	373654	Xenbase:XB-GENE-1007496
Xenopus laevis	108696362	Xenbase:XB-GENE-17330991
Xenopus tropicalis	496446	Xenbase:XB-GENE-1007491
Chrysemys picta bellii	101950973		CHRPI32749
Crocodylus porosus	109314472		CROPO20740

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024