Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

MBL2 Gene

protein-coding   GIFtS: 68
GCID: GC10M054525

Mannose-Binding Lectin (Protein C) 2, Soluble

(Previous names: mannose-binding lectin (protein C) 2, soluble (opsonic defect))
(Previous symbol: MBL)
Microbiology & Infectious 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

Aliases
Mannose-Binding Lectin (Protein C) 2, Soluble1 2     MBPD2
MBL1 2 3 5     collectin-12
MBP12 3 5     Mannan-Binding Lectin2
Mannose-Binding Lectin (Protein C) 2, Soluble (Opsonic Defect)1 2     Mannose-Binding Lectin 2, Soluble (Opsonic Defect)2
COLEC12 3     Mannose-Binding Protein C2
MBP-C2 3     Collectin-13
HSMBPC2     Mannan-Binding Protein3
MBL2D2     Mannose-Binding Lectin3
MBP2     

External Ids:    HGNC: 69221   Entrez Gene: 41532   Ensembl: ENSG000001654717   OMIM: 1545455   UniProtKB: P112263   

Export aliases for MBL2 gene to outside databases

Previous GC identifers: GC10M053372 GC10M054417 GC10M053869 GC10M054195 GC10M048503


(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 MBL2 Gene:
This gene encodes the soluble mannose-binding lectin or mannose-binding protein found in serum. The protein
encoded belongs to the collectin family and is an important element in the innate immune system. The protein
recognizes mannose and N-acetylglucosamine on many microorganisms, and is capable of activating the classical
complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and
infectious diseases. (provided by RefSeq, Jul 2008)

GeneCards Summary for MBL2 Gene: 
MBL2 (mannose-binding lectin (protein C) 2, soluble) is a protein-coding gene. Diseases associated with MBL2 include vulvovaginitis, and vulvovaginal candidiasis, and among its related super-pathways are Classical Complement Pathway and Immune response Alternative complement pathway. GO annotations related to this gene include eukaryotic cell surface binding and receptor binding. An important paralog of this gene is SFTPA1.

UniProtKB/Swiss-Prot: MBL2_HUMAN, P11226
Function: Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and
N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late
apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells,
facilitating their uptake by macrophages. May bind DNA

Gene Wiki entry for MBL2 (Mannan-binding lectin) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MBL2 gene promoter:
         p53   HNF-4alpha2   Ik-3   HNF-4alpha1   CREB   Ik-2   deltaCREB   Chx10   STAT3   ARP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMBL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MBL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBL2


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

Entrez Gene cytogenetic band: 10q11.2   Ensembl cytogenetic band:  10q21.1   HGNC cytogenetic band: 10q11.2

MBL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MBL2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M054525:  view genomic region     (about GC identifiers)

Start:
54,525,140 bp from pter      End:
54,531,460 bp from pter
Size:
6,321 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MBL2_HUMAN, P11226 (See protein sequence)
Recommended Name: Mannose-binding protein C precursor  
Size: 248 amino acids; 26144 Da
Subunit: Oligomeric complex of 3 or more homotrimers. Interacts with MASP1 and MASP2. Interacts with MEP1A and
MEP1B and may inhibit their catalytic activity
Subcellular location: Secreted
1 PDB 3D structure from and Proteopedia for MBL2:
1HUP (3D)    
Secondary accessions: Q4VB12 Q4VB13 Q86SI4 Q96KE4 Q96TF7 Q96TF8 Q96TF9

Explore the universe of human proteins at neXtProt for MBL2: NX_P11226

Explore proteomics data for MBL2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P11226

  • MBL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MBL2 Protein Expression
    REFSEQ proteins: NP_000233.1  
    ENSEMBL proteins: 
     ENSP00000363079  
    Reactome Protein details: P11226
    Human Recombinant Protein Products for MBL2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for MBL2 (MBL)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for MBL2
    OriGene Protein Over-expression Lysate for MBL2
    OriGene MassSpec for MBL2 
    OriGene Custom Protein Services for MBL2
    GenScript Custom Purified and Recombinant Proteins Services for MBL2
    Novus Biologicals MBL2 Proteins
    Novus Biologicals MBL2 Lysate
    Sino Biological Recombinant Protein for MBL2
    Sino Biological Cell Lysate for MBL2 
    ProSpec Recombinant Protein for MBL2
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005615extracellular space IEA--
    GO:0009986cell surface TAS2477488

    MBL2 for ontologies           About GeneDecksing



    MBL2 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of MBL2
    R&D Systems Antibodies for MBL2 (MBL)
    OriGene Antibodies for MBL2
    OriGene Custom Antibody Services for MBL2
    GenScript Custom Superior Antibodies Services for MBL2
    Novus Biologicals MBL2 Antibodies
    Abcam antibodies for MBL2
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for MBL2
    LSBio Antibodies in human, mouse, rat for MBL2 

    Assay Products for MBL2: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for MBL2
    R&D Systems ELISAs for MBL2 (MBL)
    GenScript Custom Assay Services for MBL2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

    5 InterPro protein domains:
     IPR016187 C-type_lectin_fold
     IPR018378 C-type_lectin_CS
     IPR016186 C-type_lectin-like
     IPR001304 C-type_lectin
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry P11226

    ProtoNet protein and cluster: P11226

    2 Blocks protein domains:
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: MBL2_HUMAN, P11226
    Similarity: Contains 1 C-type lectin domain
    Similarity: Contains 1 collagen-like domain


    MBL2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MBL2_HUMAN, P11226
    Function: Calcium-dependent lectin involved in innate immune defense. Binds mannose, fucose and
    N-acetylglucosamine on different microorganisms and activates the lectin complement pathway. Binds to late
    apoptotic cells, as well as to apoptotic blebs and to necrotic cells, but not to early apoptotic cells,
    facilitating their uptake by macrophages. May bind DNA

         Genatlas biochemistry entry for MBL2:
    mannose-binding lectin,member of the collectin family,32kDa,homolog of C1q,and mouse MBP-C,complexing as an
    hexameric form with MASP1,MASP2,Map19,a spliced isoform of MASP2. Antibody independent activator of the classical
    pathway of complement,mutated in chronic,progressive hepatitis B infection

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI11549596
    GO:0005515protein binding IPI11485744
    GO:0005537mannose binding TAS2477488
    GO:0030246carbohydrate binding ----
    GO:0048306calcium-dependent protein binding IPI12421953
         
    MBL2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MBL2:
     Decreased viability 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mbl2):
     hematopoietic system  homeostasis/metabolism  immune system  renal/urinary system 

    MBL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mbl2tm1Kata for MBL2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for MBL2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MBL2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MBL2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for MBL2 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MBL2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MBL2:
    hsa-miR-3148 hsa-miR-216a
    SwitchGear 3'UTR luciferase reporter plasmidMBL2 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MBL2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MBL2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for MBL2
    Sirion Biotech Customized adenovirus for overexpression of MBL2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for MBL2 (see all 7)
    OriGene ORF clones in mouse, rat for MBL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MBL2 (NM_000242)
    Sino Biological Human cDNA Clone for MBL2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBL2
    Sirion Biotech Customized lentivirus for stable overexpression of MBL2 
                         Customized lentivirus expression plasmids for stable overexpression of MBL2 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for MBL2
    Search LifeMap BioReagents cell lines for MBL2
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBL2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for MBL2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Classical Complement Pathway
    Complement Pathway0.75
    Complement Activation Pathways0.31
    Lectin Induced Complement Pathway0.65
    2Immune response Lectin induced complement pathway
    Immune response Lectin induced complement pathway0.56
    Immune response Lectin Induced complement pathway0.56
    3Classical antibody-mediated complement activation
    Creation of C4 and C2 activators0.88
    Complement cascade0.76
    Initial triggering of complement0.86
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5Ficolins bind to repetitive carbohydrate structures on the target cell surface
    Lectin pathway of complement activation0.83

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for MBL2
        Immune response Lectin Induced complement pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for MBL2
        Lectin Induced Complement Pathway
    Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for MBL2
        Immune response Lectin induced complement pathway

    1 Sino Biological Pathway for MBL2 
        Complement Activation Pathways

    5/6        Reactome Pathways for MBL2 (see all 6)
        Creation of C4 and C2 activators
    Lectin pathway of complement activation
    Complement cascade
    Immune System
    Initial triggering of complement


    3         Kegg Pathways  (Kegg details for MBL2):
        Phagosome
    Complement and coagulation cascades
    Staphylococcus aureus infection


    MBL2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MBL2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/15 Interacting proteins for MBL2 (P112262, 3 ENSP000003630794) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP1Q079542, 3, ENSP000002430774MINT-8040928 MINT-8040706 MINT-8040679 MINT-8040869 MINT-8040821 I2D: score=1 STRING: ENSP00000243077
    CALRP277973, ENSP000003208664I2D: score=2 STRING: ENSP00000320866
    CD93Q9NPY33, ENSP000002460064I2D: score=1 STRING: ENSP00000246006
    CALCRP309883, ENSP000003525614I2D: score=1 STRING: ENSP00000352561
    KRT1P042643, ENSP000002522444I2D: score=2 STRING: ENSP00000252244
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001867complement activation, lectin pathway TAS--
    GO:0006953acute-phase response TAS2477488
    GO:0006956complement activation TAS--
    GO:0006958complement activation, classical pathway IEA--
    GO:0006979response to oxidative stress NAS11549596

    MBL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    MBL2 for compounds           About GeneDecksing

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

    Compounds for MBL2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PLP (139-151)Encephalitogenic myelin proteolipid fragment[122018-58-0]
    ONO 2506Inhibits S100B synthesis; neuroprotective[185517-21-9]
    C3bot (154-182)Neurotrophic fragment of clostridial C3 protein[1246280-79-4]
    MOG (35-55)Encephalitogenic myelin oligodendrocyte glycoprotein fragment[149635-73-4]
    Nogo-66 (1-40)Competitive antagonist for Nogo-66 receptor; promotes neuron regeneration[475221-20-6]

    1 HMDB Compound for MBL2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    9 DrugBank Compounds for MBL2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alpha-D-Mannose-- 3458-28-4target--17139284 17016423 10592235
    Alpha-L-1-Methyl-Fucose-- --target--17139284 17016423 10592235
    Alpha-L-Methyl-Fucose-- --target--17139284 17016423 10592235
    Alpha-Methyl-N-Acetyl-D-Glucosamine-- --target--17139284 17016423 10592235
    Beta-L-Methyl-Fucose-- --target--17139284 17016423 10592235
    Methyl alpha-D-mannoside-- 25281-48-5target--17139284 17016423 10592235
    O-Sialic Acid-- --target--17139284 17016423 10592235
    O3-Sulfonylgalactose-- --target--17139284 17016423 10592235
    O4-Sulfonylgalactose-- --target--17139284 17016423 10592235

    10/71 Novoseek inferred chemical compound relationships for MBL2 gene (see all 71)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mannan 90.2 283 15480986 (6), 12439525 (6), 7776856 (5), 16099048 (5) (see all 98)
    mannose 89.8 562 8698491 (6), 11789968 (6), 9529088 (5), 7635515 (4) (see all 99)
    n-acetylglucosamine 69.2 36 8352755 (2), 2241172 (1), 14568388 (1), 16116208 (1) (see all 23)
    serine 69.1 254 20214636 (4), 10878362 (3), 9087411 (3), 8912663 (2) (see all 99)
    maltose 65.5 53 9215565 (2), 19733183 (2), 1324436 (2), 12794084 (2) (see all 39)
    amylose 64.6 3 16562482 (1), 19333433 (1), 10911622 (1)
    carbohydrates 47.6 43 8352755 (2), 15728497 (2), 10077993 (1), 9716101 (1) (see all 25)
    polysaccharide 45.4 25 16407218 (5), 15488604 (2), 8666845 (1), 17177967 (1) (see all 15)
    imipenem 41 9 18577797 (2), 17900848 (2), 18323150 (1), 19386392 (1) (see all 6)
    galactose 38.3 10 1279438 (2), 17015733 (1), 9832639 (1), 12645947 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about MBL2

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MBL2 gene: 
    NM_000242.2  

    Unigene Cluster for MBL2:

    Mannose-binding lectin (protein C) 2, soluble
    Hs.499674  [show with all ESTs]
    Unigene Representative Sequence: X15422
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000373968(uc001jjt.3) ENST00000493043
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MBL2
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MBL2:
    hsa-miR-3148 hsa-miR-216a
    SwitchGear 3'UTR luciferase reporter plasmidMBL2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MBL2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MBL2
    Clone
    Products:
         
    OriGene clones in human, mouse for MBL2 (see all 7)
    OriGene ORF clones in mouse, rat for MBL2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: MBL2 (NM_000242)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MBL2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBL2
    Sirion Biotech Customized lentivirus for stable overexpression of MBL2 
                         Customized lentivirus expression plasmids for stable overexpression of MBL2 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MBL2
    OriGene qSTAR qPCR primer pairs in human, mouse for MBL2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MBL2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MBL2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBL2

    Additional mRNA sequence: 

    AF360991.1 AY826184.1 BC069338.1 BC096179.3 BC096180.3 BC096181.3 BC096182.3 X15422.1 

    2 DOTS entries:

    DT.210118  DT.92419044 

    14 AceView cDNA sequences:

    BC069338 NM_000242 X15422 AV660367 BG566773 AV658446 AV660023 BG563087 
    BG617649 AV720438 AF360991 AV718572 T61795 AV692246 

    GeneLoc Exon Structure


    (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

    MBL2 expression in normal human tissues (normalized intensities)      MBL2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTTTAATG
    MBL2 Expression
    About this image


    MBL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Ovary (Reproductive System)
             oocyte   
     
     Endothelium (Cardiovascular System)
             Embryoid bodies ( Two-step protocol for endothelial differentiation by embryoid...

    See MBL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MBL2

    SOURCE GeneReport for Unigene cluster: Hs.499674

    UniProtKB/Swiss-Prot: MBL2_HUMAN, P11226
    Tissue specificity: Plasma protein produced mainly in the liver

        SABiosciences Expression via Pathway-Focused PCR Arrays including MBL2 (see all 6): 
              Innate & Adaptive Immune Responses in human mouse rat
              HIV Host Response in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              Antifungal Response in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for MBL2
    OriGene qSTAR qPCR primer pairs in human, mouse for MBL2
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat MBL2
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MBL2
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBL2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBL2

    (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 MBL2 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mbl21 , 5 mannose-binding lectin (protein C) 21, 5 72.18(n)1
    61.16(a)1
      19 (25.14 cM)5
    171951  NM_010776.11  NP_034906.11 
     302329575 
    chicken
    (Gallus gallus)
    Aves MBL21 mannose-binding lectin (protein C) 2, soluble 53.06(n)
    47.5(a)
      374267  NM_204349.2  NP_989680.2 
    lizard
    (Anolis carolinensis)
    Reptilia MBL26
    Uncharacterized protein
    41(a)
    1 ↔ 1
    GL343233.1(1583837-1605636)
    zebrafish
    (Danio rerio)
    Actinopterygii hbl41 hexose-binding lectin 4 51.11(n)
    44.29(a)
      100137128  NM_001114725.1  NP_001108197.1 


    ENSEMBL Gene Tree for MBL2 (if available)
    TreeFam Gene Tree for MBL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MBL2 gene
    SFTPA12  COLEC112  SFTPD2  COLEC102  SFTPA22  
    4 SIMAP similar genes for MBL2 using alignment to 3 protein entries:     MBL2_HUMAN (see all proteins):
    HSMBPC    SFTPD    SFTPA1    SFTPA2

    MBL2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for MBL2
    PGOHUM00000258491 PGOHUM00000258533


    (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) 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

    UniProtKB/Swiss-Prot: MBL2_HUMAN, P11226
    Polymorphism: Genetic variations in MBL2 influence susceptibility to hepatitis B virus (HBV) infection
    [MIM:610424]
    Polymorphism: Genetic variations in MBL2 are responsible for mannose-binding protein deficiency [MIM:614372]. This
    condition is defined as MBL2 protein level of less than 100 ng/ml, is present in about 5% of people of European
    descent and in about 10% of sub-Saharan Africans. Most MBL2-deficient adults appear healthy, but low levels of
    MBL2 are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and
    in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants.
    There is an association between low levels of MBL2 and a defect of opsonization which results in susceptibility
    to frequent and chronic infections (PubMed:1675710). Functional MBL2 deficiency may be associated with protection
    against tuberculosis caused by Mycobacterium africanum but not by Mycobacterium tuberculosis, as observed in
    studies on Ghanaian patients with pulmonary tuberculosis (PubMed:21695215)


    10/288 SNPs in MBL2 are shown (see all 288)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18004511,2,4
    C,F,Hpathogenic154915888(-) CAAGGG/AAGAAA 2 /E /G mis127Minor allele frequency- A:0.09MN NS EA NA WA EU 8715
    rs18004501,2,4
    C,F,A,Hpathogenic154915897(-) TGATGA/GCACCA 2 D G mis1 ese332Minor allele frequency- N:0.00MN NS EA NA CSA WA EU 9103
    rs50307371,2,4
    C,F,Hpathogenic154915904(-) ATGGGC/TGTGAT 2 R C mis120Minor allele frequency- T:0.05MN NS EA NA EU 7957
    VAR_0132944
    ----see VAR_0132942 T A mis40--------
    rs341308481,2
    C--48508284(+) GAGTCTA/-TTACC 1 -- int11Minor allele frequency- -:0.50NA 2
    rs355204481,2
    C,F--48508285(-) GGGTAAT/-AGACT 1 -- int15Minor allele frequency- -:0.24MN 404
    rs104503101,2
    C,F,A,H--54909322(+) aaaatG/Acaaat 1 -- ds500124Minor allele frequency- A:0.26NS EA NA MN WA CSA 2716
    rs1851571531,2
    --54909422(+) ATATAA/TTCAGA 1 -- ds50010--------
    rs357790271,2
    C,F--54909482(-) GTTTTC/GTGTCT 1 -- ds50015Minor allele frequency- G:0.01MN 404
    rs557161291,2
    C,F--54909620(-) ATTATC/TTAAAA 1 -- ds50011Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for MBL2 (54525140 - 54531460 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MBL2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2666698CNV Deletion23128226
    nsv895403CNV Loss21882294
    esv24436CNV Loss19812545
    nsv437673CNV Loss16327808
    nsv518123CNV Loss19592680
    nsv831876CNV Gain17160897
    nsv895401CNV Gain21882294
    nsv515970CNV Gain+Loss19592680


    Human Gene Mutation Database (HGMD): MBL2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MBL2
    DNA2.0 Custom Variant and Variant Library Synthesis for MBL2

    (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
    OMIM gene information: 154545    OMIM disorders: --

    20/193 diseases for MBL2 (see all 193):    About MalaCards
    vulvovaginitis    vulvovaginal candidiasis    cryptosporidiosis    rheumatic fever
    acanthamoeba keratitis    mannose-binding lectin protein deficiency    otitis media    aspergillosis
    complement deficiency    vulvar vestibulitis syndrome    kawasaki disease    bacterial vaginosis
    endomyocardial fibrosis    dengue disease    tuberculous meningitis    listeriosis
    coccidioidomycosis    hematologic cancer    invasive aspergillosis    trachoma


    MBL2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/97 Novoseek inferred disease relationships for MBL2 gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    complement deficiency 67 6 12794259 (1), 18703174 (1), 16373252 (1), 1934604 (1) (see all 5)
    lupus erythematosus systemic 60.6 113 20022898 (3), 8961910 (2), 11561111 (2), 19035512 (2) (see all 49)
    meningococcal diseases 59.9 36 17484222 (4), 8469930 (3), 10199352 (3), 15242964 (2) (see all 19)
    response acute phase 53.2 21 16133991 (4), 17083310 (2), 7776856 (1), 15449036 (1) (see all 9)
    autoimmune diseases 51.8 82 16081027 (5), 15645196 (4), 19035512 (2), 19185543 (2) (see all 35)
    candidiasis vulvovaginal 51.8 26 17470593 (4), 19910100 (2), 15825027 (2), 16256117 (2) (see all 7)
    respiratory tract infections 47.6 55 18729778 (3), 19169708 (3), 16702562 (3), 15681508 (2) (see all 27)
    nephropathy iga 46.8 21 9832639 (5), 10692265 (2), 11940329 (2), 11274270 (2) (see all 7)
    inflammation 42.7 64 18592362 (3), 15853952 (2), 19716183 (2), 16955210 (2) (see all 32)
    immunodeficiency 41.3 71 19580835 (4), 8666845 (2), 10903744 (2), 7707811 (2) (see all 42)

    Genatlas disease: MBL2
    infections,recurrent,with chronic diarrhea and opsonisation defect (low MBL2),including susceptibility to
    meningococcal disease

    Genetic Association Database (GAD): MBL2
    Human Genome Epidemiology (HuGE) Navigator: MBL2 (365 documents)

    Export disorders for MBL2 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 MBL2 gene, integrated from 9 sources (see all 1303):
    (articles sorted by number of sources associating them with MBL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mannose binding lectin genotypes influence recovery from hepatitis B virus infection. (PubMed id 15994813)1, 2, 4 Thio C.L.... Thomas D.L. (2005)
    2. Molecular basis of opsonic defect in immunodeficient children. (PubMed id 1675710)1, 2, 3 Sumiya M....Summerfield J.A. (1991)
    3. MBL expression in patients with recurrent tonsillitis . (PubMed id 19716183)1, 4, 9 Grasso D.L....Crovella S. (2009)
    4. Analysis of the relationship between mannose-binding lectin (MBL) genotype, MBL levels and function in an Australian blood donor population. (PubMed id 12472676)1, 4, 9 Minchinton R.M....Mullighan C.G. (2002)
    5. Functional polymorphisms in the mannan-binding lectin 2 gene: effect on MBL levels and otitis media. (PubMed id 16750996)1, 4, 9 Wiertsema S.P....Rijkers G.T. (2006)
    6. Mannose-binding lectin deficiency is associated with early onset of polyarticular juvenile rheumatoid arthritis: a cohort study. (PubMed id 18334024)1, 4, 9 Dolman K.M....Smerdel-Ramoya A. (2008)
    7. Mannose binding lectin gene polymorphisms confer a major risk for severe infections after liver transplantation. (PubMed id 16083697)1, 4, 9 Bouwman L.H....Schaapherder A.F. (2005)
    8. [The role of mannose binding lectin in the pathogenesis of systemic lupus erythematosus] (PubMed id 16677572)1, 4, 9 Li S.G....Zhao M.S. (2006)
    9. Mannose-binding lectin genotypes are associated with shorter gestational age. An evolutionary advantage of low MBL production genotypes? (PubMed id 17942155)1, 4, 9 van de Geijn F.E....de Groot C.J. (2008)
    10. Mannose-binding lectin in susceptibility and progression of HIV-1 infection in children. (PubMed id 16856624)1, 4, 9 Dzwonek A....Klein N. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 4153 HGNC: 6922 AceView: MBL2 Ensembl:ENSG00000165471 euGenes: HUgn4153
    ECgene: MBL2 Kegg: 4153 H-InvDB: MBL2

    (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 MBL2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MBL2
    Functional Glycomics Gateway - Glycan Bindinghttp://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_227

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MBL2 gene:
    Search GeneIP for patents involving MBL2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of MBL2
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for MBL2 (MBL)   Browse Cell Culture Products  
     ELISAs for MBL2 (MBL)   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot 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 Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Recombinant/Natural Proteins for MBL2 (MBL)  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for MBL2   OriGene RNAi products in human, mouse, rat for MBL2  
     OriGene qPCR primer pairs and template standards for MBL2   OriGene Protein Over-expression Lysate for MBL2  
     OriGene MassSpec something-or-other for MBL2   OriGene clones in human, mouse for MBL2  
     OriGene qSTAR qPCR primer pairs in human, mouse for MBL2   OriGene Purified Protein for MBL2  
     OriGene ORF clones in mouse, rat for MBL2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for MBL2   OriGene Custom Protein Services for MBL2  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MBL2
     QIAGEN SeqTarget long-range PCR primers for resequencing MBL2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MBL2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MBL2
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MBL2
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MBL2
     GenScript Custom Purified and Recombinant Proteins Services for MBL2 GenScript cDNA clones with any tag delivered in your preferred vector for MBL2
     GenScript Custom Assay Services for MBL2 GenScript Custom Superior Antibodies Services for MBL2
     GenScript Custom overexpressing Cell Line Services for MBL2 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

     Regulatory tfbs in MBL2 promoter
     Search Chromatin IP Primers for MBL2
     RT2 qPCR Primer Assay in human, mouse, rat MBL2
     GNC Network for MBL2
     SABiosciences PCR Arrays including human, mouse, rat MBL2
     Tocris compounds for MBL2
     Proteins and Antibodies for MBL2
     Cell Lysates for MBL2
     cDNA Clones for MBL2
     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
     MBL2 antibodies
     MBL2 proteins
     MBL2 lysates
     Antibodies for MBL2
     See all of Abcam's Antibodies, Kits and Proteins for MBL2
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for MBL2




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Search LifeMap BioReagents cell lines for MBL2
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBL2
     SwitchGear 3'UTR luciferase reporter plasmids for MBL2
     SwitchGear Promoter luciferase reporter plasmids for MBL2
     ThermoFisher Antibody for MBL2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBL2
     inGenious Targeting Laboratory - Custom generated mouse model solutions for MBL2
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MBL2
    Customized:
     lentivirus for stable overexpression of MBL2
     lentivirus expression plasmids for stable overexpression of MBL2
     adenovirus for overexpression of MBL2
     LSBio Antibodies in human, mouse, rat for MBL2
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 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      MBL2 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4