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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

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)
 Explore 36 diseases affiliated with
MASP2 via our new
 Human Malady Compendium 
Biological research products
for MASP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

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     SMAP1
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MASP2:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_021937.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for MASP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
11,107,290 bp from pter
Size:
20,711 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Secreted
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O00187

  • 3 DME Specific Peptides for MASP2 (O00187)
     DIALIKL  GIVSWGS  WVLTAAH 

    MASP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000383690   ENSP00000383691  
    Reactome Protein details: O00187
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    Uscn Proteins for MASP2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--


    MASP2 for ontologies           About GeneDecksing



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

    MASP2 for domains           About GeneDecksing

    5/11 InterPro domains/families (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 families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004252serine-type endopeptidase activity IDA9087411
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI10946292
    GO:0008233peptidase activity IDA10946292
    GO:0048306calcium-dependent protein binding IPI12421953


    MASP2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Masp2tm1Wjsc for MASP2
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Masp2):
     cardiovascular system  homeostasis/metabolism  immune system 

    MASP2 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cleavage of Alpha-1-Microglobulin
    Creation of C4 and C2 activators0.70
    Complement cascade0.47
    Initial triggering of complement0.60
    2Immune System
    Immune System1.00
    Innate Immune System0.46
    3Complement and coagulation cascades
    Complement and coagulation cascades1.00
    Complement and Coagulation Cascades0.72
    4Classical Complement Pathway
    Complement Pathway0.75
    Lectin Induced Complement Pathway0.56
    5Immune response_Alternative complement pathway
    Immune response Lectin Induced complement pathway0.56
    Immune response_Lectin induced complement pathway0.56

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for MASP2
        Immune response Lectin Induced complement pathway

    2 Downloadable PowerPoint Slides of QIAGEN 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

    5/6        Reactome Pathways for MASP2 (see all 6)
        Creation of C4 and C2 activators
    Lectin pathway of complement activation
    Complement cascade
    Immune System
    Initial triggering of complement


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


    MASP2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MASP2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/13 Interacting proteins for MASP2 (O001872, 3 ENSP000003836904) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SERPING1P051553, ENSP000002784074I2D: score=3 STRING: ENSP00000278407
    MBL2P112263, ENSP000003630794I2D: score=2 STRING: ENSP00000363079
    FCN2Q154853, ENSP000002917444I2D: score=2 STRING: ENSP00000291744
    MASP1P487403, ENSP000002962804I2D: score=1 STRING: ENSP00000296280
    C2P066813I2D: score=1 
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001867complement activation, lectin pathway TAS--
    GO:0006508proteolysis IEA--
    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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MASP2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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 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)

    Search CenterWatch for drugs/clinical trials and news about MASP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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)

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    Additional cDNA 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 

    24/38 AceView cDNA sequences (see all 38):

    BC067359 BQ648719 AB008047 BQ646367 NM_139208 BE673751 BQ644570 BC052299 
    BC080556 NM_006610 AI288745 X98400 AA033700 AW137730 BQ654231 BQ653181 
    AI914242 Y18281 BV184156 AW827159 BQ648641 Y09926 Y18283 BQ650766 

    GeneLoc Exon Structure

    5/6 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MASP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACCCAATAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MASP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MASP2

    SOURCE GeneReport for Unigene cluster: Hs.655645

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

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    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

    This gene was present in the common ancestor of chordates.

    Orthologs for MASP2 gene from 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MASP21 mannan-binding lectin serine peptidase 2 64.01(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
    Paralogs for MASP2 gene
    PROZ2  PAMR12  C1S2  C1R2  C1RL2  F92  MASP12  F102  
    F22  HPR2  HP2  PROC2  F72  
    15 SIMAP similar genes for MASP2 using alignment to 1 protein entry:     MASP2_HUMAN:
    MASP1    DKFZp686O1553    C1R    C1S    KLK9    PRSS2
    TRY8    CELA2A    CTRB1    PRSS27    TRY6    CTRB2
    CTRL    KLK12    KLK8

    MASP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/565 NCBI SNPs in MASP2 are shown (see all 565    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs725508701,2
    C,F,pathogenic11106666(-) CTCCGA/GCTACT 4 D G mis18Minor allele frequency- G:0.02MN NA EU 6327
    rs771930931,2
    F,--11086091(+) ACTTAT/CTTCTA 1 -- ds50011Minor allele frequency- C:0.10WA 118
    rs2016988771,2
    --11086095(+) TTTCT-/AAATGC 1 -- ds50010--------
    rs32156161,2
    C,--11086097(-) TGGCA-/ATTAGA 1 -- ds50010--------
    rs57724401,2
    C--11086098(+) CTAATT/-GCCAC 1 -- ds50011Minor allele frequency- -:0.00NA 2
    rs2001131211,2
    C--11086099(-) AGTGGA/CATTAG 1 -- ds50010--------
    rs1430931061,2
    --11086147(+) TCTGAA/TTTTGA 1 -- ds50010--------
    rs775822071,2
    C,--11086179(+) ATTGCC/TGGGAA 1 -- ds50011Minor allele frequency- T:0.50NA 2
    rs1823922221,2
    --11086207(+) TAAATA/TCTTAG 1 -- ds50010--------
    rs1461604321,2
    --11086311(+) CTGGTC/TTTGCT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MASP2 (11086580 - 11107290 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MASP2
         2 CNVs: 67054 67053
    Human Gene Mutation Database (HGMD): MASP2

    Locus Specific Mutation Databases (LSDB): MASP2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MASP2 for disorders           About GeneDecksing

    OMIM gene information: 605102    OMIM disorders: --

    UniProtKB/Swiss-Prot: MASP2_HUMAN, O00187
  • Defects in MASP2 are the cause of MASP2 deficiency (MASPD) [MIM:613791]. MASPD is a disorder that results in
  • autoimmune manifestations, recurrent severe infections, and chronic inflammatory disease

    20/36 diseases for MASP2 (see all 36):    About MalaCards
    age related macular degeneration    pemphigus foliaceus    non-hodgkin lymphoma    macular degeneration
    hereditary angioedema    frontotemporal dementia    chronic fatigue syndrome    angioedema
    esophageal squamous cell carcinoma    cystic fibrosis    squamous cell carcinoma    hodgkin's lymphoma
    rheumatic fever    pemphigus    chagas disease    hepatitis c
    dementia    neutropenia    fibrosis    genetic disease

    10 Novoseek 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

    PubMed articles for MASP2 gene, integrated from 9 sources (see all 164):
    (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. (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. (1997)
    3. Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms. (PubMed id 17252003)1, 2, 9 Thiel S....Jensenius J.C. (2007)
    4. 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. (2001)
    5. Proteolytic activities of two types of mannose-binding lectin- associated serine protease. (PubMed id 10946292)1, 2, 9 Matsushita M.... Fujita T. (2000)
    6. 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. (2004)
    7. 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. (1999)
    8. The structure of MBL-associated serine protease-2 reveals that identical substrate specificities of C1s and MASP-2 are realized through different sets of enzyme-substrate interactions. (PubMed id 15364579)1, 2, 9 Harmat V.... Zavodszky P. (2004)
    9. MASP-2, the C3 convertase generating protease of the MBLectin complement activating pathway. (PubMed id 9777418)1, 3, 9 Vorup-Jensen T....Thiel S. (1998)
    10. A true autoactivating enzyme. Structural insight into mannose-binding lectin-associated serine protease-2 activations. (PubMed id 16040602)1, 2, 9 Gal P.... Zavodszky P. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10747 HGNC: 6902 AceView: MASP2 Ensembl:ENSG00000009724 euGenes: HUgn10747
    ECgene: MASP2 Kegg: 10747 H-InvDB: MASP2

    (According to HUGE)
    About This Section
      --

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



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