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MBL2 Gene

protein-coding   GIFtS: 66
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)
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Aliases
Mannose-Binding Lectin (Protein C) 2, Soluble1 2     MBP2
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
MBL2D2 5     Mannan-Binding Protein3
MBPD2 5     Mannose-Binding Lectin3
HSMBPC2     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 rheumatic fever. GO annotations related to this gene include mannose 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   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 Chromatin IP Primers for MBL2

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


See MBL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000233.1  
ENSEMBL proteins: 
 ENSP00000363079  
Reactome Protein details: P11226

MBL2 Human Recombinant Protein Products:

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OriGene Protein Over-expression Lysate for MBL2
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Novus Biologicals MBL2 Protein
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.

MBL2 Antibody Products:

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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

MBL2 Assay Products:

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)
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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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    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: Let us create your new Knockout/Knockin mouse model for MBL2
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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:
    
Block miRNA regulation of human, mouse, rat MBL2 using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate MBL2:
hsa-miR-3148 hsa-miR-216a
SwitchGear 3'UTR luciferase reporter plasmidMBL2 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for MBL2
Predesigned siRNA for gene silencing in human, mouse, rat MBL2

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

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for MBL2
Browse ESI BIO Cell Lines and PureStem Progenitors for MBL2 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MBL2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
MBL2_HUMAN, P11226: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
cytosol3
nucleus3
plasma membrane1

Gene Ontology (GO): 4 cellular component terms:    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


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for MBL2 About    
See pathways by source

SuperPathContained pathways About
1Complement Pathway
Immune response Lectin Induced complement pathway0.56
Complement Activation Pathways0.30
Complement Pathway0.33
Lectin Induced Complement Pathway0.00
2Creation of C4 and C2 activators
Creation of C4 and C2 activators0.85
Complement cascade0.68
Initial triggering of complement0.85
Lectin pathway of complement activation0.00
3Complement and coagulation cascades
Complement and coagulation cascades0.71
4Staphylococcus aureus infection
Staphylococcus aureus infection
5Phagosome
Phagosome

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

2 Downloadable PowerPoint Slides of GeneGlobe 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

2 Reactome Pathways for MBL2
    Lectin pathway of complement activation
Initial triggering of complement


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


MBL2 for pathways           About GeneDecksing

    Pathway & Disease-focused RT2 Profiler 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

Interactions:

    GeneGlobe Interaction Network for MBL2

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

Selected Interacting proteins for MBL2 (P112261, 2, 3 ENSP000003630794) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
InteractantInteraction Details
GeneCardExternal ID(s)
LRP1Q079541, 2, 3, ENSP000002430774EBI-5325353,EBI-1046087 MINT-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
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Gene Ontology (GO): Selected biological process terms (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, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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

Selected 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)



MBL2 for compounds           About GeneDecksing



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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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
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000373968(uc001jjt.3)
Congresses - knowledge worth sharing:
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
Products:
     
Block miRNA regulation of human, mouse, rat MBL2 using miScript Target Protectors
2 qRT-PCR Assays for microRNAs that regulate MBL2:
hsa-miR-3148 hsa-miR-216a
SwitchGear 3'UTR luciferase reporter plasmidMBL2 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for MBL2
Predesigned 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
Primer
Products:
    
OriGene qPCR primer pairs and template standards for MBL2
OriGene qSTAR qPCR primer pairs in human, mouse for MBL2
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBL2
  QuantiTect SYBR Green Assays in human, mouse, rat MBL2
  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 X15422 AV660023 AV660367 BG566773 NM_000242 AV658446 BG563087 
BG617649 AF360991 AV718572 AV720438 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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MBL2 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 3) fully expand
 
 Liver (Hepatobiliary System)
         Hepatocytes Liver Lobule
 
 Testis (Reproductive System)
         Sertoli cells Seminiferous Tubules
 
 NULL (Uncategorized)
         Vascular endothelial growth factor-induced embryoid bodies
MBL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

MBL2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.499674

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

    Pathway & Disease-focused RT2 Profiler 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
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MBL2
QuantiTect SYBR Green Assays in human, mouse, rat MBL2
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)
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This gene was present in the common ancestor of chordates.

Orthologs for MBL2 gene from Selected species (see all 10)    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 72.01(n)1
61.04(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 53.97(n)
47.62(a)
  374267  NM_204349.2  NP_989680.2 
lizard
(Anolis carolinensis)
Reptilia MBL26
mannose-binding lectin (protein C) 2, soluble
43(a)
1 ↔ 1
GL343233.1(1583837-1605636)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004962141 pulmonary surfactant-associated protein D-like 51.89(n)
45.7(a)
  100496214  XM_002933897.2  XP_002933943.1 
zebrafish
(Danio rerio)
Actinopterygii hbl41 hexose-binding lectin 4 51.28(n)
43.75(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)
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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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot
MBL2_HUMAN, P11226: Genetic variations in MBL2 influence susceptibility to hepatitis B virus (HBV) infection
[MIM:610424]
MBL2_HUMAN, P11226: 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)


Selected SNPs for MBL2 (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
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
rs782679651,2
C,F--54909636(+) GCATGA/GGAGCA 1 -- ds50011Minor allele frequency- G:0.10WA 118

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
Site Specific Mutation Identification with 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.)
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OMIM gene information: 154545   
OMIM disorders: 614372  
Selected diseases for MBL2 (see all 209):    
About MalaCards
vulvovaginitis    rheumatic fever    mannose-binding lectin protein deficiency    mannose-binding lectin deficiency
prosthetic joint infection    chronic infections, due to mbl deficiency    cryptosporidiosis    vulvovaginal candidiasis
acanthamoeba keratitis    complement deficiency    vulvar vestibulitis syndrome    bacterial vaginosis
otitis media    listeriosis    endomyocardial fibrosis    kawasaki disease
aspergillosis    dengue disease    tuberculous meningitis    invasive aspergillosis


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

Selected 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)
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PubMed articles for MBL2 gene, integrated from 10 sources (see all 1321):
(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. (J. Virol. 2005)
  2. Molecular basis of opsonic defect in immunodeficient children. (PubMed id 1675710)1, 2, 3 Sumiya M....Summerfield J.A. (Lancet 1991)
  3. MBL expression in patients with recurrent tonsillitis. (PubMed id 19716183)1, 4, 9 Grasso D.L....Crovella S. (Int. J. Pediatr. Otorhinolaryngol. 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. (Scand. J. Immunol. 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. (J. Allergy Clin. Immunol. 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. (amp 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. (Gastroenterology 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. (Zhonghua Yi Xue Za Zhi 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. (Mol. Immunol. 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. (Antivir. Ther. (Lond.) 2006)

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

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for MBL2 Pharmacogenomics, SNPs, Pathways
GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=MBL2[genesymbol]
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.)
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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



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