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Aliases for MBL2 Gene

Aliases for MBL2 Gene

  • Mannose Binding Lectin 2 2 3 5
  • Mannose-Binding Lectin (Protein C) 2, Soluble (Opsonic Defect) 2 3
  • Collectin-1 3 4
  • COLEC1 3 4
  • MBP-C 3 4
  • MBP1 3 4
  • MBL 3 4
  • Mannose-Binding Lectin 2, Soluble (Opsonic Defect) 3
  • Mannose-Binding Lectin (Protein C) 2, Soluble 2
  • Mannose-Binding Protein C 3
  • Mannan-Binding Protein 4
  • Mannose-Binding Lectin 4
  • Mannan-Binding Lectin 3
  • HSMBPC 3
  • MBL2D 3
  • MBPD 3
  • MBP 3

External Ids for MBL2 Gene

Previous HGNC Symbols for MBL2 Gene

  • MBL

Previous GeneCards Identifiers for MBL2 Gene

  • GC10M053372
  • GC10M054417
  • GC10M053869
  • GC10M054195
  • GC10M054525
  • GC10M048503

Summaries for MBL2 Gene

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 2) is a Protein Coding gene. Diseases associated with MBL2 include Chronic Infections, Due To Mbl Deficiency and Pulmonary Tuberculosis. Among its related pathways are Creation of C4 and C2 activators and Immune response Lectin induced complement pathway. GO annotations related to this gene include calcium ion binding and calcium-dependent protein binding. An important paralog of this gene is SFTPD.

UniProtKB/Swiss-Prot for MBL2 Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBL2 Gene

Genomics for MBL2 Gene

Regulatory Elements for MBL2 Gene

Enhancers for MBL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around MBL2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MBL2 Gene

Chromosome:
10
Start:
52,765,380 bp from pter
End:
52,772,841 bp from pter
Size:
7,462 bases
Orientation:
Minus strand

Genomic View for MBL2 Gene

Genes around MBL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MBL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBL2 Gene

Proteins for MBL2 Gene

  • Protein details for MBL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11226-MBL2_HUMAN
    Recommended name:
    Mannose-binding protein C
    Protein Accession:
    P11226
    Secondary Accessions:
    • Q4VB12
    • Q4VB13
    • Q4VB14
    • Q5SQS3
    • Q86SI4
    • Q96KE4
    • Q96TF7
    • Q96TF8
    • Q96TF9

    Protein attributes for MBL2 Gene

    Size:
    248 amino acids
    Molecular mass:
    26144 Da
    Quaternary structure:
    • Oligomeric complex of 3 or more homotrimers. Interacts with MASP1 and MASP2. Interacts with MEP1A and MEP1B and may inhibit their catalytic activity.

    Three dimensional structures from OCA and Proteopedia for MBL2 Gene

neXtProt entry for MBL2 Gene

Post-translational modifications for MBL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MBL2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MBL2 Gene

Domains & Families for MBL2 Gene

Gene Families for MBL2 Gene

Graphical View of Domain Structure for InterPro Entry

P11226

UniProtKB/Swiss-Prot:

MBL2_HUMAN :
  • The coiled-coil domain mediates trimerization.
Domain:
  • The coiled-coil domain mediates trimerization.
  • Contains 1 C-type lectin domain.
  • Contains 1 collagen-like domain.
genes like me logo Genes that share domains with MBL2: view

Function for MBL2 Gene

Molecular function for MBL2 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for MBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity TAS --
GO:0005102 receptor binding IPI 11549596
GO:0005509 calcium ion binding IBA --
GO:0005515 protein binding IPI 11485744
GO:0005537 mannose binding TAS 2477488
genes like me logo Genes that share ontologies with MBL2: view
genes like me logo Genes that share phenotypes with MBL2: view

Animal Models for MBL2 Gene

MGI Knock Outs for MBL2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MBL2 Gene

Localization for MBL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBL2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MBL2 Gene COMPARTMENTS Subcellular localization image for MBL2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IEA,IDA 23544079
GO:0009986 cell surface TAS 2477488
genes like me logo Genes that share ontologies with MBL2: view

Pathways & Interactions for MBL2 Gene

genes like me logo Genes that share pathways with MBL2: view

Pathways by source for MBL2 Gene

Gene Ontology (GO) - Biological Process for MBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001867 complement activation, lectin pathway TAS --
GO:0006508 proteolysis IEA --
GO:0006953 acute-phase response TAS 2477488
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway IEA --
genes like me logo Genes that share ontologies with MBL2: view

No data available for SIGNOR curated interactions for MBL2 Gene

Drugs & Compounds for MBL2 Gene

(40) Drugs for MBL2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alpha-L-Methyl-Fucose Experimental Pharma Target 0
Alpha-Methyl-N-Acetyl-D-Glucosamine Experimental Pharma Target 0
Beta-L-Methyl-Fucose Experimental Pharma Target 0
Methyl alpha-D-mannoside Experimental Pharma Target 0
O3-Sulfonylgalactose Experimental Pharma Target 0

(42) Additional Compounds for MBL2 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
D-Mannose
  • (+)-mannose
  • (+-)-mannose
  • Carubinose
  • D(+)-Mannose
  • D-Mannopyranose
3458-28-4
Methyl beta-D-glucopyranoside
  • 1-O-Methyl-alpha-D-Mannose
  • 1-O-Methyl-beta -D-glucopyranoside
  • 1-O-Methyl-beta-D-glucopyranoside
  • 2-(Hydroxymethyl)-6-methoxytetrahydro-2H-pyran-3,4,5-triol
  • alpha-Methyl-D -mannoside
709-50-2
genes like me logo Genes that share compounds with MBL2: view

Transcripts for MBL2 Gene

mRNA/cDNA for MBL2 Gene

(3) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MBL2 Gene

Mannose-binding lectin (protein C) 2, soluble:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBL2 Gene

No ASD Table

Relevant External Links for MBL2 Gene

GeneLoc Exon Structure for
MBL2
ECgene alternative splicing isoforms for
MBL2

Expression for MBL2 Gene

mRNA expression in normal human tissues for MBL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MBL2 Gene

This gene is overexpressed in Liver (x52.7).

Protein differential expression in normal tissues from HIPED for MBL2 Gene

This gene is overexpressed in Gallbladder (21.9), Plasma (20.8), and Serum (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MBL2 Gene



Protein tissue co-expression partners for MBL2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MBL2 Gene:

MBL2

SOURCE GeneReport for Unigene cluster for MBL2 Gene:

Hs.499674

mRNA Expression by UniProt/SwissProt for MBL2 Gene:

P11226-MBL2_HUMAN
Tissue specificity: Plasma protein produced mainly in the liver.
genes like me logo Genes that share expression patterns with MBL2: view

Primer Products

Orthologs for MBL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MBL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MBL2 34
  • 76.65 (n)
  • 65.18 (a)
MBL 35
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbl2 34
  • 72.01 (n)
  • 61.04 (a)
Mbl2 16
Mbl2 35
  • 61 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MBL2 34
  • 99.33 (n)
  • 99.19 (a)
MBL2 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbl2 34
  • 71.57 (n)
  • 61.9 (a)
oppossum
(Monodelphis domestica)
Mammalia MBL2 35
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBL2 35
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBL2 34
  • 53.97 (n)
  • 47.62 (a)
MBL2 35
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBL2 35
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496214 34
  • 51.89 (n)
  • 45.7 (a)
zebrafish
(Danio rerio)
Actinopterygii hbl4 34
  • 51.28 (n)
  • 43.75 (a)
CR847898.1 35
  • 26 (a)
ManyToMany
hbl1 35
  • 33 (a)
ManyToMany
hbl2 35
  • 34 (a)
ManyToMany
hbl3 35
  • 33 (a)
ManyToMany
hbl4 35
  • 37 (a)
ManyToMany
Species where no ortholog for MBL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MBL2 Gene

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

Paralogs for MBL2 Gene

Paralogs for MBL2 Gene

(4) SIMAP similar genes for MBL2 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for MBL2 Gene

genes like me logo Genes that share paralogs with MBL2: view

Variants for MBL2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for MBL2 Gene

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).
MBL2_HUMAN-P11226
Genetic variations in MBL2 influence susceptibility to hepatitis B virus (HBV) infection [MIM:610424].

Sequence variations from dbSNP and Humsavar for MBL2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1800450 - 52,771,475(-) TGATG(A/G)CACCA reference, missense
rs1800451 - 52,771,466(-) CAAGG(A/G)AGAAA reference, missense
rs5030737 - 52,771,482(-) ATGGG(C/T)GTGAT reference, missense
VAR_013294 -
rs12260094 - 52,768,244(+) ATTGT(A/T)GGGTT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MBL2 Gene

Variant ID Type Subtype PubMed ID
dgv1140n54 CNV loss 21841781
dgv854n100 CNV gain 25217958
dgv855n100 CNV gain 25217958
dgv856n100 CNV gain 25217958
esv24436 CNV loss 19812545
esv2666698 CNV deletion 23128226
esv2761595 CNV loss 21179565
esv3578899 CNV loss 25503493
esv3623258 CNV loss 21293372
nsv1041917 CNV loss 25217958
nsv1051777 CNV gain 25217958
nsv437673 CNV loss 16327808
nsv515970 CNV gain+loss 19592680
nsv518123 CNV loss 19592680
nsv831876 CNV gain 17160897

Variation tolerance for MBL2 Gene

Residual Variation Intolerance Score: 90% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.37; 88.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBL2 Gene

Human Gene Mutation Database (HGMD)
MBL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBL2

Disorders for MBL2 Gene

MalaCards: The human disease database

(40) MalaCards diseases for MBL2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chronic infections, due to mbl deficiency
  • mannose-binding protein deficiency
pulmonary tuberculosis
  • ptb
rheumatic fever
  • acute rheumatic fever
vulvovaginal candidiasis
  • candidal vulvovaginitis
aspergillosis
  • aspergillosis, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search MBL2 in MalaCards View complete list of genes associated with diseases

Genatlas disease for MBL2 Gene

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

Relevant External Links for MBL2

Genetic Association Database (GAD)
MBL2
Human Genome Epidemiology (HuGE) Navigator
MBL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBL2
genes like me logo Genes that share disorders with MBL2: view

No data available for UniProtKB/Swiss-Prot for MBL2 Gene

Publications for MBL2 Gene

  1. Influence of mannose-binding lectin genotypes and serostatus in allo-SCT: analysis of 131 recipients and donors. (PMID: 19430499) Neth O.W. … Zander A.R. (Bone Marrow Transplant. 2010) 3 22 46 65
  2. Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis. (PMID: 20068595) McDougal K.E. … Cutting G.R. (Eur. J. Hum. Genet. 2010) 3 22 46 65
  3. Association between mannose-binding lectin levels and gene polymorphisms in chronic periodontitis and response to treatment. (PMID: 20132924) OzAsaka O. … Berdeli A. (Arch. Oral Biol. 2010) 3 22 46 65
  4. Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia. (PMID: 20172753) MendonAsa T.F. … Cavalcanti M.S. (Blood Cells Mol. Dis. 2010) 3 22 46 65
  5. Mannose binding lectin (+54) exon 1 gene polymorphism in Tunisian kidney transplant patients. (PMID: 19328949) Gorgi Y. … Ayed K. (Transplant. Proc. 2009) 3 22 46 65

Products for MBL2 Gene

Sources for MBL2 Gene

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