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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 61
  • 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 C1 Inhibitor Deficiency. Among its related pathways are Immune System and Complement Pathway. 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

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

Genomics for MASP2 Gene

Regulatory Elements for MASP2 Gene

Enhancers for MASP2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F011011 0.2 ENCODE 9.9 +34.2 34150 3.4 HDGF ARNT CREB3L1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ENSG00000226849 EXOSC10 DFFA MASP2 ANGPTL7 ENSG00000271895 ENSG00000277726
GH01F010968 1 Ensembl ENCODE 5.9 +78.1 78127 2.2 PKNOX1 TBL1XR1 ZIC2 ZNF366 SCRT2 EED CREM SCRT1 MTA2 CBFB MASP2 C1orf127 HSPE1P24
GH01F011285 0.6 ENCODE 4.7 -239.1 -239069 2.6 CTCF ZNF654 ZNF366 SMARCA4 POLR2A PRDM1 RAD21 ANGPTL7 EXOSC10 MASP2 PIR33705 UBE2V2P3
GH01F011280 0.6 Ensembl ENCODE 4.6 -234.4 -234425 3.3 HDGF PKNOX1 FEZF1 ZNF23 ZNF316 POLR2A NCOR1 PRDM10 MAFK EGR2 MTOR-AS1 EXOSC10 MASP2 UBE2V2P3 PIR33705
GH01F011045 0.6 ENCODE 0.8 +1.0 1008 1.5 PKNOX1 NFIA SAP130 NR2F1 SP2 THRB ZBTB7A RARA YY1 POLR2A ANGPTL7 ENSG00000226849 MASP2 GC01P011041
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MASP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MASP2 Gene

Chromosome:
1
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

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 StructureGene Density

RefSeq DNA sequence 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

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.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MASP2 Gene

Antibody Products

  • Abcam antibodies for MASP2
  • Santa Cruz Biotechnology (SCBT) Antibodies for MASP2

Domains & Families for MASP2 Gene

Gene Families for MASP2 Gene

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

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:0004252 serine-type endopeptidase activity IEA,TAS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 10946292
GO:0008233 peptidase activity IEA,IDA 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

  • Taconic Biosciences Mouse Models for MASP2

Inhibitory RNA Products

Flow Cytometry Products

No data available for 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
Jensen Localization Image for MASP2 Gene COMPARTMENTS Subcellular localization image for MASP2 gene
Compartment Confidence
extracellular 5
golgi apparatus 3
nucleus 2
lysosome 1
plasma membrane 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MASP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,TAS --
GO:0005615 extracellular space IBA --
GO:0070062 extracellular exosome IDA 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 IDA,TAS --
GO:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0006956 complement activation IEA,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

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

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

(4) 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

Unigene Clusters for MASP2 Gene

Mannan-binding lectin serine peptidase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry 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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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.
genes like me logo Genes that share expression patterns with MASP2: view

Primer Products

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 34 35
  • 99.27 (n)
cow
(Bos Taurus)
Mammalia MASP2 34 35
  • 85.65 (n)
mouse
(Mus musculus)
Mammalia Masp2 34 16 35
  • 82.96 (n)
rat
(Rattus norvegicus)
Mammalia Masp2 34
  • 82.59 (n)
dog
(Canis familiaris)
Mammalia MASP2 34 35
  • 81.25 (n)
oppossum
(Monodelphis domestica)
Mammalia MASP2 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MASP2 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves MASP2 34 35
  • 63.91 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia masp2 34
  • 57.78 (n)
zebrafish
(Danio rerio)
Actinopterygii masp2 34 35
  • 56.89 (n)
Dr.17391 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
ManyToMany
-- 35
  • 29 (a)
ManyToMany
-- 35
  • 29 (a)
ManyToMany
-- 35
  • 27 (a)
ManyToMany
CSA.10613 35
  • 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 Sequence Context AA Info Type
rs56392418 MASP2 deficiency (MASPD) [MIM:613791] 11,046,591(+) TGAAC(A/G)GCTTC nc-transcript-variant, reference, missense
rs72550870 MASP2 deficiency (MASPD) [MIM:613791], Pathogenic 11,046,609(-) CTCCG(A/G)CTACT nc-transcript-variant, reference, missense
rs1033638 -- 11,026,660(-) AGTCA(C/T)CTTTG intron-variant, utr-variant-3-prime
rs10779750 -- 11,046,302(+) GCTGC(C/T)GCGCC intron-variant
rs11121683 -- 11,031,726(+) gagtt(A/C)aggac intron-variant

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

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

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)

Relevant External Links 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

(7) MalaCards diseases for MASP2 Gene - From: OMIM, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
masp2 deficiency
  • immunodeficiency due to masp-2 deficiency
c1 inhibitor deficiency
  • quincke edema
rheumatic fever
  • acute rheumatic fever
c1s deficiency
  • complement component c1s deficiency
rheumatic heart disease
  • rheumatic congestive heart failure
- 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.

Relevant External Links for MASP2

Genetic Association Database (GAD)
MASP2
Human Genome Epidemiology (HuGE) Navigator
MASP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MASP2
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 J.P. (Tissue Antigens 2005) 3 4 22 46 64
  2. A second serine protease associated with mannan-binding lectin that activates complement. (PMID: 9087411) Thiel S. … Jensenius J.C. (Nature 1997) 2 3 4 22 64
  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 J.M. (Clin. Vaccine Immunol. 2010) 3 22 46 64
  4. Genetic and structural analysis of MBL2 and MASP2 polymorphisms in south-eastern African children. (PMID: 19775369) VallA"s X. … Lozano F. (Tissue Antigens 2009) 3 22 46 64
  5. Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity. (PMID: 19234189) Thiel S. … Jensenius J.C. (J. Immunol. 2009) 3 22 46 64

Products for MASP2 Gene

Sources for MASP2 Gene

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