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MASP2 Gene(Protein Coding)

Mannan Binding Lectin Serine Peptidase 2

GCID:
GC01M011086
GIFtS:
53
Genes Participants
UDN Logo

Aliases for MASP2 Gene

Aliases for MASP2 Gene

  • Mannan Binding Lectin Serine Peptidase 2 2 3 5
  • Mannan-Binding Lectin Serine Peptidase 1 Pseudogene 1 2 3
  • Mannan-Binding Lectin Serine Protease 1 Pseudogene 1 2 3
  • Mannose-Binding Protein-Associated Serine Protease 2 3 4
  • Mannan-Binding Lectin Serine Protease 2 2 3
  • MBL-Associated Serine Protease 2 3 4
  • MASP-2 3 4
  • MBL-Associated Plasma Protein Of 19 KD 3
  • Small MBL-Associated Protein 3
  • EC 3.4.21.104 4
  • EC 3.4.21 56
  • MASP1P1 3
  • MAP19 3
  • SMAP 3

External Ids for MASP2 Gene

Previous HGNC Symbols for MASP2 Gene

  • MASP1P1

Previous GeneCards Identifiers for MASP2 Gene

  • GC01M011047
  • GC01M010930
  • GC01M010695
  • GC01M010796
  • GC01M011020
  • GC01M011009
  • GC01M010238

Summaries for MASP2 Gene

Entrez Gene Summary for MASP2 Gene

  • 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]

GeneCards Summary for MASP2 Gene

MASP2 (Mannan Binding Lectin Serine Peptidase 2) is a Protein Coding gene. Diseases associated with MASP2 include Masp2 Deficiency and Mannose-Binding Lectin Deficiency. Among its related pathways are Creation of C4 and C2 activators 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.

UniProtKB/Swiss-Prot for MASP2 Gene

  • Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase.

Gene Wiki entry for MASP2 Gene

Additional gene information for MASP2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MASP2 Gene

Genomics for MASP2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for MASP2 Gene

Promoters and enhancers for MASP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH01I011047 Promoter 1.1 EPDnew 550.8 0.0 -20 0.1 FOXA2 ARID4B DMAP1 RARA YY1 THAP11 MIXL1 RXRA REST PPARG MASP2 SRM
GH01I011045 Enhancer 0.7 ENCODE 550.8 +1.0 1007 1.5 MEIS2 PKNOX1 SAP130 THRB RARA YY1 POLR2A NR2F6 TCF7L2 RXRA MASP2 ANGPTL7 ENSG00000226849 GC01P011041
GH01I011011 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10 +34.2 34150 3.4 HDGF CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 TARDBP ENSG00000277726 ENSG00000226849 CLCN6 EXOSC10 FBXO44 DFFA MASP2 ANGPTL7 ENSG00000271895
GH01I010968 Enhancer 0.9 Ensembl ENCODE 5.9 +78.7 78710 1 PKNOX1 MXI1 EBF1 BATF ZIC2 IRF4 POLR2A NFATC1 SCRT2 ATF7 MASP2 C1orf127 HSPE1P24
GH01I011280 Enhancer 1 Ensembl ENCODE 4.6 -234.5 -234465 3.2 HDGF FEZF1 FOSL1 POLR2B ZNF316 POLR2A VEZF1 PRDM10 ETV6 MAFK MTOR-AS1 EXOSC10 MASP2 UBE2V2P3 GC01M011183 PIR33705 UBIAD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MASP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MASP2 gene promoter:

Genomic Locations for MASP2 Gene

Genomic Locations for MASP2 Gene
chr1:11,026,523-11,047,239
(GRCh38/hg38)
Size:
20,717 bases
Orientation:
Minus strand
chr1:11,086,580-11,107,296
(GRCh37/hg19)

Genomic View for MASP2 Gene

Genes around MASP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MASP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MASP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MASP2 Gene

Proteins for MASP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MASP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00187-MASP2_HUMAN
    Recommended name:
    Mannan-binding lectin serine protease 2
    Protein Accession:
    O00187
    Secondary Accessions:
    • A8K458
    • A8MWJ2
    • O75754
    • Q5TEQ5
    • Q5TER0
    • Q96QG4
    • Q9BZH0
    • Q9H498
    • Q9H499
    • Q9UBP3
    • Q9UC48
    • Q9ULC7
    • Q9UMV3
    • Q9Y270

    Protein attributes for MASP2 Gene

    Size:
    686 amino acids
    Molecular mass:
    75702 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Binds MBL2. Isoform 2 binds to MASP1. Binds SERPING1. Dimerization and MBL2 binding requires calcium ions.

    Three dimensional structures from OCA and Proteopedia for MASP2 Gene

    Alternative splice isoforms for MASP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MASP2 Gene

Protein Expression for MASP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MASP2 Gene

O00187:
  • GIVSWGS
  • WVLTAAH
  • DIALIKL

Post-translational modifications for MASP2 Gene

  • Activated by cleavage after Arg-444. The uncleaved zymogen is inactive towards synthetic substrates, but has sufficient activity to effect autocatalytic cleavage.
  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF domains.

Other Protein References for MASP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MASP2 Gene

Gene Families for MASP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for MASP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MASP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00187

UniProtKB/Swiss-Prot:

MASP2_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with MASP2: view

Function for MASP2 Gene

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for MASP2 Gene

GENATLAS Biochemistry:
mannan-binding lectin serine protease 2,including an alternatively spliced (truncated) isoform of 19kDa (Map19),also included in the complex formed with MBL2 and MASP1 to form the antibody independent activator of the classical pathway of complement
UniProtKB/Swiss-Prot CatalyticActivity:
Selective cleavage after Arg-223 in complement component C2 (-Ser-Leu-Gly-Arg- -Lys-Ile-Gln-Ile) and after Arg-76 in complement component C4 (-Gly-Leu-Gln-Arg- -Ala-Leu-Glu-Ile).
UniProtKB/Swiss-Prot Function:
Serum protease that plays an important role in the activation of the complement system via mannose-binding lectin. After activation by auto-catalytic cleavage it cleaves C2 and C4, leading to their activation and to the formation of C3 convertase.

Enzyme Numbers (IUBMB) for MASP2 Gene

Gene Ontology (GO) - Molecular Function for MASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001855 complement component C4b binding IDA 22949645
GO:0004252 serine-type endopeptidase activity IDA,TAS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10946292
GO:0008233 peptidase activity IDA,IEA 10946292
genes like me logo Genes that share ontologies with MASP2: view
genes like me logo Genes that share phenotypes with MASP2: view

Human Phenotype Ontology for MASP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MASP2 Gene

MGI Knock Outs for MASP2:

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for MASP2 Gene

Localization for MASP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MASP2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MASP2 gene
Compartment Confidence
extracellular 5
golgi apparatus 3
nucleus 2
plasma membrane 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IBA --
GO:0070062 extracellular exosome IDA,HDA 19056867
genes like me logo Genes that share ontologies with MASP2: view

Pathways & Interactions for MASP2 Gene

genes like me logo Genes that share pathways with MASP2: view

Gene Ontology (GO) - Biological Process for MASP2 Gene

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 --
genes like me logo Genes that share ontologies with MASP2: view

No data available for SIGNOR curated interactions for MASP2 Gene

Drugs & Compounds for MASP2 Gene

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  1. Drug

(5) Drugs for MASP2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Beta-Hydroxyasparagine Experimental Pharma Target 0

(3) Additional Compounds for MASP2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MASP2: view

Transcripts for MASP2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MASP2 Gene

(3) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(38) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MASP2 Gene

Mannan-binding lectin serine peptidase 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MASP2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - - -
SP2: - - -
SP3: -
SP4: -
SP5:
SP6:

Relevant External Links for MASP2 Gene

GeneLoc Exon Structure for
MASP2
ECgene alternative splicing isoforms for
MASP2

Expression for MASP2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MASP2 Gene

mRNA expression in normal human tissues for MASP2 Gene
mRNA expression by GTEx for MASP2 GenemRNA expression by BioGPS for MASP2 Gene

mRNA differential expression in normal tissues according to GTEx for MASP2 Gene

This gene is overexpressed in Liver (x29.7).

Protein differential expression in normal tissues from HIPED for MASP2 Gene

This gene is overexpressed in Urine (61.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MASP2 Gene



Protein tissue co-expression partners for MASP2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MASP2 Gene:

MASP2

SOURCE GeneReport for Unigene cluster for MASP2 Gene:

Hs.655645

mRNA Expression by UniProt/SwissProt for MASP2 Gene:

O00187-MASP2_HUMAN
Tissue specificity: Plasma.

Evidence on tissue expression from TISSUES for MASP2 Gene

  • Liver(4.6)
  • Urine(4.3)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MASP2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • mouth
Thorax:
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with MASP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for MASP2 Gene

Orthologs for MASP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MASP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia MASP2 33 34
  • 99.27 (n)
cow
(Bos Taurus)
 Mammalia MASP2 33 34
  • 85.65 (n)
mouse
(Mus musculus)
 Mammalia Masp2 33 16 34
  • 82.96 (n)
rat
(Rattus norvegicus)
 Mammalia Masp2 33
  • 82.59 (n)
dog
(Canis familiaris)
 Mammalia MASP2 33 34
  • 81.25 (n)
oppossum
(Monodelphis domestica)
 Mammalia MASP2 34
  • 66 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia MASP2 34
  • 64 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MASP2 33 34
  • 63.91 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia masp2 33
  • 57.78 (n)
zebrafish
(Danio rerio)
 Actinopterygii masp2 33 34
  • 56.89 (n)
Dr.17391 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 30 (a)
 ManyToMany
-- 34
  • 29 (a)
 ManyToMany
-- 34
  • 29 (a)
 ManyToMany
-- 34
  • 27 (a)
 ManyToMany
CSA.10613 34
  • 23 (a)
 ManyToMany
Species where no ortholog for MASP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MASP2 Gene

ENSEMBL:
Gene Tree for MASP2 (if available)
TreeFam:
Gene Tree for MASP2 (if available)

Paralogs for MASP2 Gene

Paralogs for MASP2 Gene

(13) SIMAP similar genes for MASP2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MASP2: view

Variants for MASP2 Gene

Sequence variations from dbSNP and Humsavar for MASP2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1033638 benign, Amyotrophic Lateral Sclerosis, Dominant, MASP2 deficiency, Frontotemporal dementia 11,026,660(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs115750484 likely-benign, Frontotemporal dementia, Amyotrophic Lateral Sclerosis, Dominant 11,026,701(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant
rs116311214 uncertain-significance, MASP2 deficiency 11,026,696(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs12085877 likely-benign, MASP2 deficiency 11,027,630(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant
rs12142107 benign, MASP2 deficiency 11,037,810(-) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for MASP2 Gene

Variant ID Type Subtype PubMed ID
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
dgv106n54 CNV loss 21841781

Variation tolerance for MASP2 Gene

Residual Variation Intolerance Score: 92.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.19; 75.95% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MASP2 Gene

Human Gene Mutation Database (HGMD)
MASP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MASP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MASP2 Gene

Disorders for MASP2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MASP2 Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
masp2 deficiency
  • lectin complement activation pathway, defect in, 2; lcapd2
mannose-binding lectin deficiency
  • mbld
rheumatic fever
  • acute rheumatic fever
c1 inhibitor deficiency
  • quincke edema
hereditary angioedema
  • hane
- elite association - COSMIC cancer census association via MalaCards
Search MASP2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MASP2_HUMAN
  • MASP2 deficiency (MASPD) [MIM:613791]: A disorder that results in autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease. {ECO:0000269 PubMed:12904520, ECO:0000269 PubMed:17252003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MASP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MASP2: view

No data available for Genatlas for MASP2 Gene

Publications for MASP2 Gene

  1. Novel MASP2 variants detected among North African and Sub-Saharan individuals. (PMID: 16029433) Lozano F … Horcajada JP (Tissue antigens 2005) 3 4 22 44 58
  2. A second serine protease associated with mannan-binding lectin that activates complement. (PMID: 9087411) Thiel S … Jensenius JC (Nature 1997) 2 3 4 22 58
  3. Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome. (PMID: 20042521) Smithson A … Nicolas JM (Clinical and vaccine immunology : CVI 2010) 3 22 44 58
  4. Genetic and structural analysis of MBL2 and MASP2 polymorphisms in south-eastern African children. (PMID: 19775369) Vallès X … Lozano F (Tissue antigens 2009) 3 22 44 58
  5. Lack of association between polymorphisms of MASP2 and susceptibility to SARS coronavirus infection. (PMID: 19405982) Wang Y … Cao C (BMC infectious diseases 2009) 3 22 44 58

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Sources for MASP2 Gene

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