Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



MASP2 Gene

protein-coding   GIFtS: 66
GCID: GC01M011086

Mannan-Binding Lectin Serine Peptidase 2

(Previous names: mannan-binding lectin serine protease 2, mannan-binding...)
(Previous symbol: MASP1P1)
Pneumococci & Pneumococcal Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

TryGeneCards Plus

Aliases
Mannan-Binding Lectin Serine Peptidase 21 2     MBL-Associated Serine Protease 22 3
MASP1P11 2     MAP192
Mannan-Binding Lectin Serine Peptidase 1 Pseudogene 11 2     MBL-Associated Plasma Protein Of 19 KD2
Mannan-Binding Lectin Serine Protease 1 Pseudogene 11 2     sMAP2
Mannan-Binding Lectin Serine Protease 21 2     Small MBL-Associated Protein2
Mannose-Binding Protein-Associated Serine Protease 22 3     EC 3.4.21.1043
MASP-22 3     EC 3.4.218

External Ids:    HGNC: 69021   Entrez Gene: 107472   Ensembl: ENSG000000097247   OMIM: 6051025   UniProtKB: O001873   

Export aliases for MASP2 gene to outside databases

Previous GC identifers: GC01M011047 GC01M010930 GC01M010695 GC01M010796 GC01M011020 GC01M011009 GC01M010238


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

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 mannose-binding lectin deficiency. GO annotations related to this gene include peptidase activity and calcium ion binding. An important paralog of this gene is PROZ.

UniProtKB/Swiss-Prot: MASP2_HUMAN, O00187
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

Gene Wiki entry for MASP2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the MASP2 gene promoter:
         Max1   Max   NRSF form 1   NRSF form 2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMASP2 promoter sequence
   Search Chromatin IP Primers for MASP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MASP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.3-p36.2   Ensembl cytogenetic band:  1p36.22   HGNC cytogenetic band: 1p36.3-p36.2

MASP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MASP2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M011086:  view genomic region     (about GC identifiers)

Start:
11,086,580 bp from pter      End:
11,107,296 bp from pter
Size:
20,717 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: MASP2_HUMAN, O00187 (See protein sequence)
Recommended Name: Mannan-binding lectin serine protease 2 precursor  
Size: 686 amino acids; 75702 Da
Subunit: Homodimer; disulfide-linked. Binds MBL2. Isoform 2 binds to MASP1. Binds SERPING1. Dimerization and MBL2
binding requires calcium ions
5 PDB 3D structures from and Proteopedia for MASP2:
1Q3X (3D)        1SZB (3D)        1ZJK (3D)        3TVJ (3D)        4FXG (3D)    
Secondary accessions: A8K458 A8MWJ2 O75754 Q5TEQ5 Q5TER0 Q96QG4 Q9BZH0 Q9H498 Q9H499 Q9UBP3
Q9UC48 Q9ULC7 Q9UMV3 Q9Y270
Alternative splicing: 2 isoforms:  O00187-1   O00187-2   

Explore the universe of human proteins at neXtProt for MASP2: NX_O00187

Explore proteomics data for MASP2 at MOPED

Post-translational modifications: 

  • The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF
    domains (By similarity)1
  • Activated by cleavage after Arg-444. The uncleaved zymogen is inactive towards synthetic substrates, but has
    sufficient activity to effect autocatalytic cleavage1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 3 DME Specific Peptides for MASP2 (O00187)
     DIALIKL  GIVSWGS  WVLTAAH 


    See MASP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_006601.2  NP_631947.1  

    ENSEMBL proteins: 
     ENSP00000383690   ENSP00000383691  
    Reactome Protein details: O00187

    MASP2 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for MASP2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for MASP2
    GenScript Custom Purified and Recombinant Proteins Services for MASP2
    Novus Biologicals MASP2 Protein
    Novus Biologicals MASP2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MASP2

    MASP2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for MASP2
    OriGene Custom Antibody Services for MASP2
    Novus Biologicals MASP2 Antibodies
    Abcam antibodies for MASP2
    Cloud-Clone Corp. Antibodies for MASP2
    Search ThermoFisher Antibodies for MASP2
    LSBio Antibodies in human, mouse, rat for MASP2

    MASP2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MASP2
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for MASP2
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for MASP2
    Cloud-Clone Corp. CLIAs for MASP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus
    Selected InterPro protein domains (see all 11):
     IPR024175 Pept_S1A_C1r/C1S/mannan-bd
     IPR001314 Peptidase_S1A
     IPR000436 Sushi_SCR_CCP
     IPR000152 EGF-type_Asp/Asn_hydroxyl_site
     IPR018097 EGF_Ca-bd_CS

    Graphical View of Domain Structure for InterPro Entry O00187

    ProtoNet protein and cluster: O00187

    5 Blocks protein domains:
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB000859 CUB domain
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature
    IPB001881 EGF-like calcium-binding


    UniProtKB/Swiss-Prot: MASP2_HUMAN, O00187
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 2 CUB domains
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 2 Sushi (CCP/SCR) domains


    MASP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MASP2_HUMAN, O00187
    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
    Catalytic activity: 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)

         Genatlas biochemistry entry for MASP2:
    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

         Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.1041

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IDA9087411
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI10946292
    GO:0008233peptidase activity IDA10946292
         
    MASP2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MASP2:
     Decreased homologous recombina  Increased cilium length after  

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Masp2):
     cardiovascular system  homeostasis/metabolism  immune system 

    MASP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Masp2tm1Wjsc for MASP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MASP2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MASP2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MASP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MASP2

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat MASP2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MASP2
    SwitchGear 3'UTR luciferase reporter plasmidMASP2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for MASP2
    Predesigned siRNA for gene silencing in human, mouse, rat MASP2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MASP2

    Clone
    Products:
         
    OriGene clones in human, mouse for MASP2 (see all 12)
    OriGene ORF clones in mouse, rat for MASP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MASP2 (NM_139208)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MASP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MASP2

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MASP2
    Browse ESI BIO Cell Lines and PureStem Progenitors for MASP2 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MASP2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    MASP2_HUMAN, O00187: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    golgi apparatus3
    nucleus3
    lysosome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    MASP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
    About This Section

    TryGeneCards Plus

    SuperPaths for MASP2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Complement Pathway
    Immune response Lectin Induced complement pathway0.56
    Lectin Induced Complement Pathway0.00
    Complement Pathway0.33
    2Complement and coagulation cascades
    Complement and coagulation cascades0.71
    Complement and Coagulation Cascades0.71
    3Creation of C4 and C2 activators
    Creation of C4 and C2 activators0.85
    Ficolins bind to repetitive carbohydrate structures on the target cell surface0.00
    Initial triggering of complement0.85
    Lectin pathway of complement activation0.00
    Complement cascade0.68
    4Staphylococcus aureus infection
    Staphylococcus aureus infection

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MASP2
        Lectin Induced Complement Pathway
    Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for MASP2
        Immune response Lectin induced complement pathway

    1 BioSystems Pathway for MASP2
        Complement and Coagulation Cascades

    3 Reactome Pathways for MASP2
        Ficolins bind to repetitive carbohydrate structures on the target cell surface
    Lectin pathway of complement activation
    Initial triggering of complement


    2 Kegg Pathways  (Kegg details for MASP2):
        Complement and coagulation cascades
    Staphylococcus aureus infection


    MASP2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MASP2
    Interactions:

        GeneGlobe Interaction Network for MASP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for MASP2 (O001872, 3 ENSP000003836904) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C2P066813I2D: score=1 
    ENSG00000204364P066813I2D: score=1 
    ENSG00000206372P066813I2D: score=1 
    ENSG00000226560P066813I2D: score=1 
    ENSG00000231543P066813I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001867complement activation, lectin pathway TAS--
    GO:0006508proteolysis ----
    GO:0006956complement activation TAS--
    GO:0006958complement activation, classical pathway IEA--
    GO:0045087innate immune response TAS--

    MASP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MASP2

    1 HMDB Compound for MASP2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for MASP2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Beta-Hydroxyasparagine-- 16712-79-1target--10592235

    6 Novoseek inferred chemical compound relationships for MASP2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 81.3 115 16040602 (2), 12396007 (2), 15746044 (2), 12356684 (2) (see all 65)
    mannan 59.4 5 16102832 (2), 16670774 (1), 19234189 (1)
    carbohydrates 55.5 5 10077993 (1), 17442954 (1), 11298833 (1), 19494295 (1)
    mannose 50.7 2 9719152 (1)
    fibrinogen 4.23 3 17637839 (2)
    alanine 0 1 16903690 (1)



    MASP2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for MASP2 gene (2 alternative transcripts): 
    NM_006610.3  NM_139208.2  

    Unigene Cluster for MASP2:

    Mannan-binding lectin serine peptidase 2
    Hs.655645  [show with all ESTs]
    Unigene Representative Sequence: NM_006610
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400897(uc001aru.3) ENST00000478645 ENST00000480221(uc001arw.3 uc001arx.2)
    ENST00000400898(uc001arv.3)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat MASP2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate MASP2
    SwitchGear 3'UTR luciferase reporter plasmidMASP2 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for MASP2
    Predesigned siRNA for gene silencing in human, mouse, rat MASP2
    Clone
    Products:
         
    OriGene clones in human, mouse for MASP2 (see all 12)
    OriGene ORF clones in mouse, rat for MASP2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): MASP2 (NM_139208)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MASP2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MASP2
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MASP2
    OriGene qSTAR qPCR primer pairs in human, mouse for MASP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MASP2
      QuantiTect SYBR Green Assays in human, mouse, rat MASP2
      QuantiFast Probe-based Assays in human, mouse, rat MASP2

    Additional mRNA sequence: 

    AB008047.1 AK290823.1 BC052299.1 BC067359.1 BC080556.1 X98400.1 Y09926.1 Y18281.1 
    Y18282.1 Y18283.1 Y18284.1 

    4 DOTS entries:

    DT.75143502  DT.100019857  DT.101122  DT.100729932 

    Selected AceView cDNA sequences (see all 38):

    NM_139208 AB008047 BQ648719 BC052299 BC080556 BC067359 BQ644570 NM_006610 
    BE673751 BQ646367 AI288745 BV184156 BU839683 BQ650766 Y18281 Y18282 
    BQ653181 AW827159 AW137730 AI914242 BQ654231 Y09926 Y18283 X98400 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MASP2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for MASP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TryGeneCards Plus

    MASP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCCAATAA
    MASP2 Expression
    About this image

    MASP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MASP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.655645

    UniProtKB/Swiss-Prot: MASP2_HUMAN, O00187
    Tissue specificity: Plasma

        Custom PCR Arrays for MASP2
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MASP2
    OriGene qSTAR qPCR primer pairs in human, mouse for MASP2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MASP2
    QuantiTect SYBR Green Assays in human, mouse, rat MASP2
    QuantiFast Probe-based Assays in human, mouse, rat MASP2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MASP2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    TryGeneCards Plus

    This gene was present in the common ancestor of chordates.

    Orthologs for MASP2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Masp21 , 5 mannan-binding lectin serine peptidase 21, 5 82.96(n)1
    82.27(a)1
      4 (78.76 cM)5
    171751  NM_001003893.21  NP_001003893.11 
     1486025545 
    chicken
    (Gallus gallus)
    Aves MASP21 mannan-binding lectin serine peptidase 2 63.91(n)
    56.19(a)
      407089  NM_213587.1  NP_998752.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia AB009072.12   -- 74.56(n)    AB009072.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.173912 Danio rerio, Similar to MASP-2 protein, clone IMAGE56 more 77.04(n)    BC046065.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

    TryGeneCards Plus
    Paralogs for MASP2 gene
    PROZ2  C1S2  C1R2  C1RL2  F92  F102  MASP12  F22  
    HPR2  HP2  PROC2  F72  
    13 SIMAP similar genes for MASP2 using alignment to 1 protein entry:     MASP2_HUMAN:
    MASP1    DKFZp686O1553    C1R    C1S    KLK9    PRSS2
    TRY8    CELA2A    CTRB1    PRSS27    CTRB2    CTRL
    KLK12

    MASP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

    TryGeneCards Plus

    Selected SNPs for MASP2 (see all 822)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs563924181,2,,4
    C,FMASP2 deficiency (MASPD)4 --11125445(+) TGAACG/AGCTTC 4 /P /L mis114Minor allele frequency- A:0.04NS MN WA EA NA EU 7205
    rs725508701,2,,4
    C,FMASP2 deficiency (MASPD)4 pathogenic111125463(-) CTCCGA/GCTACT 4 D G mis18Minor allele frequency- G:0.02MN NA EU 6327
    rs3694146411,2
    C--11088760(+) GTTTT-/TTTC  
            
    TTCTT
    1 -- int10--------
    rs75285511,2
    C--11088763(+) TttttT/Cttttt 1 -- int1 trp32Minor allele frequency- C:0.00WA CSA 3
    rs3699137411,2
    C--11088763(+) TTTTT-/C/TTTC
            
    TTTTT
    1 -- int10--------
    rs1118111731,2
    C,F--11089102(+) TGGAGG/TGCAGT 1 -- int12Minor allele frequency- T:0.33WA CSA 3
    rs1456113261,2
    C--11089226(+) TTGTA-/TTTTTT 1 -- int10--------
    rs120868041,2
    C,F,H--11093519(+) cagcaC/Tggtga 1 -- int15Minor allele frequency- T:0.05NS EA WA 384
    rs1139318971,2
    C--11094013(+) ACACACACACACA
    CACTCT
    /-
    CTCTC
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs599369511,2
    C--11094301(+) AAAAA-/AAACCTTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for MASP2 (11086580 - 11107296 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MASP2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2743741CNV Deletion23290073
    esv2660954CNV Deletion23128226
    nsv832425CNV Loss17160897
    dgv137n71CNV Loss21882294
    esv25881CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): MASP2
    Locus Specific Mutation Databases (LSDB): MASP2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MASP2
    DNA2.0 Custom Variant and Variant Library Synthesis for MASP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 605102   
    OMIM disorders: 613791  
    UniProtKB/Swiss-Prot: MASP2_HUMAN, O00187
  • MASP2 deficiency (MASPD) [MIM:613791]: A disorder that results in autoimmune manifestations, recurrent
    severe infections, and chronic inflammatory disease. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for MASP2 (see all 39):    About MalaCards
    masp2 deficiency    mannose-binding lectin deficiency    c1 inhibitor deficiency    rheumatic fever
    pemphigus foliaceus    hereditary angioedema    bacteremia    angioedema
    chronic fatigue syndrome    pemphigus    frontotemporal dementia    chagas disease
    acute pancreatitis    cystic fibrosis    age related macular degeneration    pneumonia
    neutropenia    dementia    childhood leukemia    esophageal squamous cell carcinoma

    1 disease from the University of Copenhagen DISEASES database for MASP2:
    C1 inhibitor deficiency

    MASP2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10 Novoseek inferred disease relationships for MASP2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    response acute phase 32.2 1 19015737 (1)
    autoimmune diseases 14.8 1 18498410 (1)
    colorectal cancer 10.8 7 15746044 (3), 18638656 (2), 17850591 (1)
    tumors 1.82 3 15746044 (1), 16395704 (1), 18638656 (1)
    pneumonia 1.41 1 15746044 (1)
    inflammation 0 1 18596574 (1)
    lung diseases 0 3 17045845 (2)
    cancer 0 4 17984804 (3), 19343776 (1)
    cystic fibrosis 0 2 17045845 (1)
    immunodeficiency 0 3 16272342 (1), 18582923 (1), 10913141 (1)

    Genetic Association Database (GAD): MASP2
    Human Genome Epidemiology (HuGE) Navigator: MASP2 (31 documents)

    Export disorders for MASP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for MASP2 gene, integrated from 10 sources (see all 174):
    (articles sorted by number of sources associating them with MASP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel MASP2 variants detected among North African and Sub-Saharan individuals. (PubMed id 16029433)1, 2, 4, 9 Lozano F....Horcajada J.P. (Tissue Antigens 2005)
    2. A second serine protease associated with mannan-binding lectin that activates complement. (PubMed id 9087411)1, 2, 3, 9 Thiel S.... Jensenius J.C. (Nature 1997)
    3. Genetic and structural analysis of MBL2 and MASP2 polymorphisms in south-eastern African children. (PubMed id 19775369)1, 4, 9 VallA"s X....Lozano F. (Tissue Antigens 2009)
    4. Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. (PubMed id 17252003)1, 2, 9 Thiel S.... Jensenius J.C. (Genes Immun. 2007)
    5. The human gene for mannan-binding lectin-associated serine protease-2 (MASP-2), the effector component of the lectin route of complement activation, is part of a tightly linked gene cluster on chromosome 1p36.2-3. (PubMed id 11426320)1, 2, 9 Stover C.... Schwaeble W. (Genes Immun. 2001)
    6. Proteolytic activities of two types of mannose-binding lectin- associated serine protease. (PubMed id 10946292)1, 2, 9 Matsushita M.... Fujita T. (J. Immunol. 2000)
    7. Polymorphisms in mannan-binding lectin (MBL)-associated serine protease 2 affect stability, binding to MBL, and enzymatic activity. (PubMed id 19234189)1, 4, 9 Thiel S....Jensenius J.C. (J. Immunol. 2009)
    8. The X-ray structure of human mannan-binding lectin-associated protein 19 (MAp19) and its interaction site with mannan-binding lectin and L- ficolin. (PubMed id 15117939)1, 2, 9 Gregory L.A.... Gaboriaud C. (J. Biol. Chem. 2004)
    9. A truncated form of mannose-binding lectin-associated serine protease (MASP)-2 expressed by alternative polyadenylation is a component of the lectin complement pathway. (PubMed id 10330290)1, 2, 9 Takahashi M.... Matsushita M. (Int. Immunol. 1999)
    10. MBL2 and MASP2 gene polymorphisms in patients with hepatocellular carcinoma. (PubMed id 18221301)1, 4, 9 Segat L....Crovella S. (J. Viral Hepat. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 10747 HGNC: 6902 AceView: MASP2 Ensembl:ENSG00000009724 euGenes: HUgn10747
    ECgene: MASP2 Kegg: 10747 H-InvDB: MASP2

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for MASP2 Pharmacogenomics, SNPs, Pathways
    MASP2basehttp://bioinf.uta.fi/MASP2base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for MASP2 gene:
    Search GeneIP for patents involving MASP2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MASP2   OriGene RNAi products in human, mouse, rat for MASP2  
     OriGene qPCR primer pairs and template standards for MASP2   OriGene Protein Over-expression Lysate for MASP2  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for MASP2  
     OriGene qSTAR qPCR primer pairs in human, mouse for MASP2   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for MASP2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MASP2   OriGene Custom Protein Services for MASP2  

     
     
     Block miRNA regulation of human, mouse, rat MASP2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing MASP2
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MASP2 Predesigned siRNA for gene silencing in human, mouse, rat MASP2
     QuantiFast Probe-based Assays in human, mouse, rat MASP2 QuantiTect SYBR Green Assays in human, mouse, rat MASP2
     Custom PCR Arrays for MASP2 Search Chromatin IP Primers for MASP2
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MASP2  GeneGlobe Interaction Network for MASP2
     Regulatory tfbs in MASP2 promoter
     GenScript Custom Purified and Recombinant Proteins Services for MASP2 GenScript cDNA clones with any tag delivered in your preferred vector for MASP2
     GenScript Custom Assay Services for MASP2 GenScript Custom overexpressing Cell Line Services for MASP2
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for MASP2
     Browse Sino Biological Proteins
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     MASP2 antibodies
     MASP2 proteins
     MASP2 lysates
     Antibodies for MASP2
     See all of Abcam's Antibodies, Kits and Proteins for MASP2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins
     Proteins for MASP2
     Antibodies for MASP2
     ELISAs for MASP2
     CLIAs for MASP2



     Browse ESI BIO Cell Lines and PureStem Progenitors for MASP2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MASP2
     SwitchGear 3'UTR luciferase reporter plasmids for MASP2
     SwitchGear Promoter luciferase reporter plasmids for MASP2
     Search ThermoFisher Antibodies for MASP2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MASP2
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MASP2
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for MASP2
     LSBio Antibodies in human, mouse, rat for MASP2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      MASP2 gene at Home site.
    Version: 3.12.136 22 July 2014
    hostname: 356977-web1.xennexinc.com index build: 126 solr: 1.4