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Aliases for MASP2 Gene

Aliases for MASP2 Gene

  • Mannan-Binding Lectin Serine Peptidase 2 2 3
  • 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 64
  • MASP1P1 3
  • MAP19 3
  • SMAP 3

External Ids for MASP2 Gene

Previous Symbols for MASP2 Gene

  • MASP1P1

Summaries for MASP2 Gene

Entrez Gene Summary for MASP2 Gene

  • The Ra-reactive factor (RARF) is a complement-dependent bactericidal factor that binds to the Ra and R2 polysaccharides expressed by certain enterobacteria. Alternate splicing of this gene results in two transcript variants encoding two RARF components that are involved in the mannan-binding lectin pathway of complement activation. The longer isoform is cleaved into two chains which form a heterodimer linked by a disulfide bond. The encoded proteins are members of the trypsin family of peptidases. [provided by RefSeq, Jul 2008]

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 immunodeficiency due to masp-2 deficiency. Among its related pathways are Complement and coagulation cascades and Complement and coagulation cascades. GO annotations related to this gene include calcium ion binding and peptidase activity. An important paralog of this gene is HP.

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

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

Genomics for MASP2 Gene

Genomic Location for MASP2 Gene

Start:
11,026,523 bp from pter
End:
11,047,239 bp from pter
Size:
20,717 bases
Orientation:
Minus strand

Genomic View for MASP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MASP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MASP2 Gene

Regulatory Elements for MASP2 Gene

Proteins for MASP2 Gene

  • 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

Proteomics data for MASP2 Gene at MOPED

Selected DME Specific Peptides for MASP2 Gene

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MASP2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MASP2 Gene

UniProtKB/Swiss-Prot:

MASP2_HUMAN
Domain:
  • Contains 2 CUB domains.:
    • O00187
  • Contains 1 EGF-like domain.:
    • O00187
  • Contains 1 peptidase S1 domain.:
    • O00187
  • Contains 2 Sushi (CCP/SCR) domains.:
    • O00187
Family:
  • Belongs to the peptidase S1 family.:
    • O00187
genes like me logo Genes that share domains with MASP2: view

No data available for Gene Families for MASP2 Gene

Function for MASP2 Gene

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:0003824 catalytic activity --
GO:0004252 serine-type endopeptidase activity IDA 9087411
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10946292
genes like me logo Genes that share ontologies with MASP2: view
genes like me logo Genes that share phenotypes with MASP2: view

Animal Models for MASP2 Gene

MGI Knock Outs for MASP2:

No data available for miRNA , Transcription Factor Targeting and HOMER Transcription for MASP2 Gene

Localization for MASP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MASP2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MASP2 Gene COMPARTMENTS Subcellular localization image for MASP2 gene
Compartment Confidence
extracellular 5
golgi apparatus 3
nucleus 3
lysosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for MASP2 Gene

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

Pathways 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:0006508 proteolysis IEA --
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway IEA --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with MASP2: view

Compounds for MASP2 Gene

(1) HMDB Compounds for MASP2 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Drugbank Compounds for MASP2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Beta-Hydroxyasparagine
16712-79-1 target

(6) Novoseek inferred chemical compound relationships for MASP2 Gene

Compound -log(P) Hits PubMed IDs
serine 81.3 69
mannan 59.4 4
carbohydrates 55.5 4
mannose 50.7 1
fibrinogen 4.23 2
genes like me logo Genes that share compounds with MASP2: view

Transcripts for MASP2 Gene

Unigene Clusters for MASP2 Gene

Mannan-binding lectin serine peptidase 2:
Representative Sequences:

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

mRNA expression in normal human tissues for MASP2 Gene

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

This gene is overexpressed in Liver (29.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MASP2 Gene

SOURCE GeneReport for Unigene cluster for MASP2 Gene Hs.655645

mRNA Expression by UniProt/SwissProt for MASP2 Gene

O00187-MASP2_HUMAN
Tissue specificity: Plasma
genes like me logo Genes that share expressions with MASP2: view

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 36
  • 99.27 (n)
  • 98.69 (a)
MASP2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MASP2 36
  • 85.65 (n)
  • 83.89 (a)
MASP2 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MASP2 36
  • 81.25 (n)
  • 80.39 (a)
MASP2 37
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Masp2 36
  • 82.96 (n)
  • 82.27 (a)
Masp2 16
Masp2 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MASP2 37
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MASP2 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Masp2 36
  • 82.59 (n)
  • 80.95 (a)
chicken
(Gallus gallus)
Aves MASP2 36
  • 63.91 (n)
  • 56.19 (a)
MASP2 37
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia masp2 36
  • 57.78 (n)
  • 52.7 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.17391 36
masp2 36
  • 56.89 (n)
  • 50.38 (a)
masp2 37
  • 48 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 29 (a)
ManyToMany
-- 37
  • 29 (a)
ManyToMany
-- 37
  • 30 (a)
ManyToMany
-- 37
  • 27 (a)
ManyToMany
CSA.10613 37
  • 23 (a)
ManyToMany
Species with no ortholog for MASP2:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs910663 -- 11,043,910(+) CTGCC(A/G)GGGCG intron-variant
rs1033638 -- 11,026,660(-) AGTCA(C/T)CTTTG utr-variant-3-prime
rs1782454 -- 11,027,778(-) TAGGT(A/G)GTCAC intron-variant
rs1782455 -- 11,027,467(-) GCATC(C/T)GCCCT reference, synonymous-codon
rs1782457 -- 11,029,406(-) TTAtt(A/T)ttttt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832425 CNV Loss 17160897
esv25881 CNV Gain+Loss 19812545
esv2660954 CNV Deletion 23128226
esv2743741 CNV Deletion 23290073
dgv137n71 CNV Loss 21882294

Relevant External Links for MASP2 Gene

HapMap Linkage Disequilibrium report
MASP2
Human Gene Mutation Database (HGMD)
MASP2
Locus Specific Mutation Databases (LSDB)
MASP2

Disorders for MASP2 Gene

(1) OMIM Diseases for MASP2 Gene (605102)

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.

(1) University of Copenhagen DISEASES for MASP2 Gene

(10) Novoseek inferred disease relationships for MASP2 Gene

Disease -log(P) Hits PubMed IDs
response acute phase 32.2 1
autoimmune diseases 14.8 1
colorectal cancer 10.8 6
tumors 1.82 3
pneumonia 1.41 1

Relevant External Links for MASP2

Genetic Association Database (GAD)
MASP2
Human Genome Epidemiology (HuGE) Navigator
MASP2
genes like me logo Genes that share disorders with MASP2: view

Publications for MASP2 Gene

  1. A second serine protease associated with mannan-binding lectin that activates complement. (PMID: 9087411) Thiel S. … Jensenius J.C. (Nature 1997) 2 3 4 23
  2. Novel MASP2 variants detected among North African and Sub-Saharan individuals. (PMID: 16029433) Lozano F. … Horcajada J.P. (Tissue Antigens 2005) 3 4 23 49
  3. A true autoactivating enzyme. Structural insight into mannose-binding lectin-associated serine protease-2 activations. (PMID: 16040602) Gal P. … Zavodszky P. (J. Biol. Chem. 2005) 3 4 23
  4. Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. (PMID: 17252003) Thiel S. … Jensenius J.C. (Genes Immun. 2007) 3 4 23
  5. The X-ray structure of human mannan-binding lectin-associated protein 19 (MAp19) and its interaction site with mannan-binding lectin and L- ficolin. (PMID: 15117939) Gregory L.A. … Gaboriaud C. (J. Biol. Chem. 2004) 3 4 23

Products for MASP2 Gene

Sources for MASP2 Gene

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