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

MBL2 Gene

protein-coding   GIFtS: 69
GCID: GC10M054525

mannose-binding lectin (protein C) 2, soluble

(Previous names: mannose-binding lectin (protein C) 2, soluble (opsonic...)
(Previous symbol: MBL)
 Explore 203 diseases affiliated with
MBL2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for MBL2    

Aliases
for MBL2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Mannose-Binding Lectin (Protein C) 2, Soluble1 2     MBPD2
MBL1 2 3 5     Collectin-13
COLEC11 2 3     Mannan-Binding Lectin2
MBP12 3 5     Mannose-Binding Lectin 2, Soluble (Opsonic Defect)2
Mannose-Binding Lectin (Protein C) 2, Soluble (Opsonic Defect)1 2     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


Summaries
for MBL2 gene

(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:
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)

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)


Genomic Views
for MBL2 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
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 plasmid: MBL2 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

Proteins
for MBL2 gene

(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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11226

    • MBL2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000233.1  
    ENSEMBL proteins: 
     ENSP00000363079  
    Reactome Protein details: P11226
    Human Recombinant Protein Products: 
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    R&D Systems Recombinant & Natural Proteins for MBL2 (MBL)
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    Novus Biologicals MBL2 Protein
    Novus Biologicals MBL2 Lysate
    Sino Biological Recombinant Protein for MBL2
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for MBL2

    Gene Ontology (GO): 3 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--


    MBL2 for ontologies           About GeneDecksing



    MBL2 Antibody Products: 
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    Uscn ELISAs and CLIAs for MBL2

    Protein Domains /
    Families
    for MBL2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    MBL2 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 families:
    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


    Function
    for MBL2 gene

    (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: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    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 plasmid: MBL2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MBL2 (see all 7)
    OriGene shRNA RFP: MBL2
    OriGene siRNA: MBL2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MBL2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for MBL2

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MBL2 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, 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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MBL2 

    Cell Line
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    Search LifeMap BioReagents cell lines for MBL2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBL2

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI11549596
    GO:0005515protein binding IPI11485744
    GO:0005537mannose binding TAS2477488
    GO:0043499eukaryotic cell surface binding TAS2477488
    GO:0048306calcium-dependent protein binding IPI12421953


    MBL2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for MBL2:
     Decreased viability 

    Animal Models:
         Mouse knock-out Mbl2tm1Kata for MBL2
         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


    Pathways & Interactions
    for MBL2 gene

    (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 - 5/8 super-pathways (see all 8) About 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
    3Classical Complement Pathway
    		Complement Pathway0.75
    		Lectin Induced Complement Pathway0.56
    4Immune response_Alternative complement pathway
    		Immune response Lectin Induced complement pathway0.56
    		Immune response_Lectin induced complement pathway0.56
    5Lectin pathway of complement activation
    		Lectin pathway of complement activation1.00

    Pathway sources
    See GeneCards unified pathways
    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

    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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



    Drugs & Compounds
    for MBL2 gene

    (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

    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 #
    Myelin Basic Protein (87-99)Major antigenic component implicated in the pathophysiology of multiple sclerosis[118506-26-6]

    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 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 

    Transcripts
    for MBL2 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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

    miRNA
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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 AV658446 AV660023 NM_000242 AV660367 X15422 BG566773 BG563087 
    BG617649 AV720438 AV718572 AF360991 T61795 AV692246 

    GeneLoc Exon Structure


    Expression
    for MBL2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTTTTAATG

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

    MBL2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSertoli cellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBL2

    Orthologs
    for MBL2 gene

    (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 3/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 40(a)
    		 1 ↔ 1
    		 GL343233.1(1601212-1605636)
    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
    for MBL2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MBL2 gene
    SFTPA12  COLEC112  SFTPD2  COLEC122  COLEC102  SCARA32  SFTPA22  
    5 SIMAP similar genes for MBL2 using alignment to 3 protein entries:     MBL2_HUMAN (see all proteins):
    HSMBPC    SFTPD    SFTPA1    SFTPA2    COLEC11

    MBL2 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for MBL2
    PGOHUM00000258491 PGOHUM00000258533


    Genomic Variants
    for MBL2 gene

    (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

    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)


    10/245 NCBI SNPs in MBL2 are shown (see all 245)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 10 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs18004511,2
    		C,F,H,pathogenic48509834(-) CAAGGG/AAGAAA 2 /E /G mis127Minor allele frequency- A:0.09MN NS EA NA WA EU 8715
    rs357790271,2
    		C,F,--48503426(-) GTTTTC/GTGTCT 1 -- ds50015Minor allele frequency- G:0.01MN 404
    rs557161291,2
    		C,--48503564(-) ATTATC/TTAAAA 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs782679651,2
    		C,F,--48503580(+) GCATGA/GGAGCA 1 -- ds50011Minor allele frequency- G:0.10WA 118
    rs1113344671,2
    		--48503627(+) GACCCC/TAAACC 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs563250231,2
    		C,--48504055(-) ACTGGA/TTTCAC 1 -- ut310--------
    rs357681261,2
    		C,F,--48504810(-) TRTAKA/G/TAAAGA 2 -- ut315MN 408
    rs353274741,2
    		C,F,--48504811(-) ATRTAG/TKAAAG 1 -- ut315Minor allele frequency- T:0.01MN 408
    rs560096571,2
    		C--48505007(+) AAAAAA/GCACTA 1 -- ut310--------
    rs115958761,2
    		C,F,H,--48505370(+) AACATT/CGACTT 1 -- ut3123Minor allele frequency- C:0.04NS EA NA MN 2680

    HapMap Linkage Disequilibrium report for MBL2 (54525140 - 54531460 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for MBL2
         3 CNVs: 85293 65680 48565
         1 Indel: 48566
    Human Gene Mutation Database (HGMD): MBL2

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MBL2

    Disorders / Diseases
    for MBL2 gene

    (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
    MBL2 for disorders           About GeneDecksing

    OMIM gene information: 154545    OMIM disorders: --

    20/203 diseases for MBL2 (see all 203):    About MalaCards
    chronic infections, due to mbl deficiency    mannose-binding protein deficiency    otitis media    left ventricular noncompaction
    common variable immunodeficiency    diffuse large b-cell lymphoma    guillain-barre syndrome    human t-cell leukemia virus type 1
    sudden infant death syndrome    bacterial vaginosis    complex regional pain syndrome    vulvar vestibulitis syndrome
    allergic bronchopulmonary aspergillosis    patent ductus arteriosus    systemic lupus erythematosus    lupus erythematosus
    mycobacterial infection    adenomatous polyposis coli    b-cell lymphomas    plasmodium falciparum malaria

    10/97 Novoseek 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

    Publications
    for MBL2 gene

    (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 1273):
    (articles sorted by number of sources associating them with MBL2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular basis of opsonic defect in immunodeficient children. (PubMed id 1675710)1, 2, 3 Sumiya M....Summerfield J.A. (1991)
    2. 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)
    3. Association of mannose binding lectin (MBL) gene polymorphism and serum MBL concentration with characteristics and progression of systemic lupus erythematosus. (PubMed id 15647440)1, 4, 9 Takahashi R....Sumida T. (2005)
    4. Association between mannose-binding lectin and vascular complications in type 1 diabetes. (PubMed id 15161763)1, 4, 9 Hansen T.K....Flyvbjerg A. (2004)
    5. An analysis of genetic variation across the MBL2 locus in Dutch Caucasians indicates that 3' haplotypes could modify circulating levels of mannose-binding lectin. (PubMed id 16208516)1, 4, 9 Bernig T....Chanock S. (2005)
    6. The influence of mannose binding lectin polymorphisms on disease outcome in early polyarthritis. TIRA Group. (PubMed id 11361219)1, 4, 9 Jacobsen S....Garred P. (2001)
    7. Immunological status in the aetiology of recurrent otitis media with effusion: serum immunoglobulin levels, functional mannose-binding lectin and Fc receptor polymorphisms for IgG. (PubMed id 15742161)1, 4, 9 Straetemans M....Zielhuis G.A. (2005)
    8. Association of mannose-binding lectin genotype with cardiovascular abnormalities in Kawasaki disease. (PubMed id 12699957)1, 4, 9 Biezeveld M.H....Kuijpers T.W. (2003)
    9. Acute respiratory tract infections and mannose-binding lectin insufficiency during early childhood. (PubMed id 11255386)1, 4, 9 Koch A....Garred P. (2001)
    10. Distinct and overlapping functions of allelic forms of human mannose binding protein. (PubMed id 1303250)1, 2, 9 Super M.... Ezekowitz R.A. (1992)

    External Searches for MBL2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing MBL2 gene

    (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

    Other Databases showing MBL2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing MBL2 gene

    (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

    Intellectual Property
    for MBL2 gene

    (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

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