Masp2 MBL associated serine protease 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Masp2provided by MGI
Official Full Name: MBL associated serine protease 2provided by MGI
Primary source: MGI:MGI:1330832
See related: Ensembl:ENSMUSG00000028979 AllianceGenome:MGI:1330832
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MAp19; MASP-2
Summary: Predicted to enable several functions, including calcium-dependent protein binding activity; complement component C4b binding activity; and serine-type endopeptidase activity. Acts upstream of or within complement activation, lectin pathway. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Is expressed in several structures, including brain and liver. Orthologous to human MASP2 (MBL associated serine protease 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver adult (RPKM 80.9), liver E18 (RPKM 34.9) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 78.76 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (148679079..148699939)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (148594622..148615499)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

that MASP-2 deficiency can increase susceptibility to adult Herpes simplex virus encephalitis
Title: Herpes simplex encephalitis in adult patients with MASP-2 deficiency.
It has been shown that key proteins in the lectin arm of this pathway, MASP1, MASP2 and C3, are expressed in the developing cortex and that neuronal migration is impaired in knockout and knockdown mice.
Title: Developmental activities of the complement pathway in migrating neurons.
MASP-2 has an essential role in the mediation of cerebral ischemia-reperfusion injury.
Title: Mannan binding lectin-associated serine protease-2 (MASP-2) critically contributes to post-ischemic brain injury independent of MASP-1.
this study shows that MASP-2 contributes to the development of collagen Ab-induced arthritis
Title: Deconstructing the Lectin Pathway in the Pathogenesis of Experimental Inflammatory Arthritis: Essential Role of the Lectin Ficolin B and Mannose-Binding Protein-Associated Serine Protease 2.
We induced anti-myeloperoxidase vasculitis in mice and showed that neither MASP-2- nor properdin-deficient mice were protected, suggesting that alternative pathway activation does not require properdin or the lectin pathway.
Title: Experimentally-induced anti-myeloperoxidase vasculitis does not require properdin, MASP-2 or bone marrow-derived C5.
Mannan-binding lectin-associated serine protease 2 is critical for the development of renal ischemia reperfusion injury and mediates tissue injury in the absence of complement C4.
Title: Mannan-binding lectin-associated serine protease 2 is critical for the development of renal ischemia reperfusion injury and mediates tissue injury in the absence of complement C4.
Gene targeting of mouse TDP-43 negatively affects Masp2 expression.
Title: Gene targeting of mouse Tardbp negatively affects Masp2 expression.
ALI in H5N1-infected mice was caused by excessive complement activation, as demonstrated by deposition of C3, C5b-9, and MBL-C in lung tissue, and by up-regulation of MBL-associated serine protease-2 and the complement receptors C3aR and C5aR.
Title: Inhibition of complement activation alleviates acute lung injury induced by highly pathogenic avian influenza H5N1 virus infection.
study corroborates the essential function of MASP-2 in the lectin pathway and highlights the importance of mannan-binding lectin-independent lectin pathway activation in the host defense against pneumococci
Title: The lectin pathway of complement activation is a critical component of the innate immune response to pneumococcal infection.
Targeting of mannan-binding lectin-associated serine protease-2 confers protection from myocardial and gastrointestinal ischemia/reperfusion injury.
Title: Targeting of mannan-binding lectin-associated serine protease-2 confers protection from myocardial and gastrointestinal ischemia/reperfusion injury.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (2) 1 citation
Endonuclease-mediated (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Masp2 (e-PCR), detects polymorphism
- UniSTS:471084

Masp2 (e-PCR), detects polymorphism
- UniSTS:164693

C85084 (e-PCR)
- UniSTS:179104

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium-dependent protein binding	ISO Inferred from Sequence Orthology more info
enables complement component C4b binding	ISO Inferred from Sequence Orthology more info
enables hydrolase activity	IEA Inferred from Electronic Annotation more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables peptidase activity	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables serine-type peptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in complement activation	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
involved_in complement activation, lectin pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in complement activation, lectin pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within immune system process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within innate immune response	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within proteolysis	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: mannan-binding lectin serine protease 2

Names: mannan-binding lectin serine peptidase 2; mannose-binding protein-associated serine protease 2

NP_001003893.1

EC 3.4.21.104

NP_034897.1

EC 3.4.21.104

XP_011248504.1

EC 3.4.21.104

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001003893.2 → NP_001003893.1 mannan-binding lectin serine protease 2 isoform 1 precursor

See identical proteins and their annotated locations for NP_001003893.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longer transcript and it encodes the longer isoform (1).

Source sequence(s)

AI529228, AK050052, AL606969

Consensus CDS

CCDS18941.1

UniProtKB/Swiss-Prot

B1ARY2, B1ARY3, Q91WP0, Q9QXA4, Q9QXD2, Q9QXD5, Q9Z338

Related

ENSMUSP00000049729.7, ENSMUST00000052060.7

Conserved Domains (6) summary

smart00020
Location:443 → 678

Tryp_SPc; Trypsin-like serine protease

cd00041
Location:19 → 136

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00190
Location:444 → 681

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

pfam00084
Location:300 → 361

Sushi; Sushi repeat (SCR repeat)

pfam00431
Location:184 → 293

CUB; CUB domain

pfam14670
Location:152 → 180

FXa_inhibition; Coagulation Factor Xa inhibitory site
NM_010767.3 → NP_034897.1 mannan-binding lectin serine protease 2 isoform 2 precursor

See identical proteins and their annotated locations for NP_034897.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) includes an alternate segment, compared to variant 1, that causes a frameshift and results in a shorter transcript. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AI529228, AJ250369

Consensus CDS

CCDS18942.1

UniProtKB/Swiss-Prot

Q91WP0

Related

ENSMUSP00000101326.3, ENSMUST00000105701.9

Conserved Domains (2) summary

cd00041
Location:19 → 136

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam14670
Location:152 → 180

FXa_inhibition; Coagulation Factor Xa inhibitory site

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

148679079..148699939

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011250202.4 → XP_011248504.1 mannan-binding lectin serine protease 2 isoform X1

Conserved Domains (5) summary

smart00020
Location:442 → 677

Tryp_SPc; Trypsin-like serine protease

cd00041
Location:18 → 135

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

pfam00084
Location:299 → 360

Sushi; Sushi repeat (SCR repeat)

pfam00431
Location:183 → 292

CUB; CUB domain

pfam14670
Location:151 → 179

FXa_inhibition; Coagulation Factor Xa inhibitory site