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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 Mannose-Binding Lectin Deficiency and Pulmonary Tuberculosis. Among its related pathways are Toll-like Receptor Signaling Pathway and Creation of C4 and C2 activators. Gene Ontology (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

Additional gene information for MBL2 Gene

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

Genomics for MBL2 Gene

GeneHancer (GH) Regulatory Elements for MBL2 Gene

Promoters and enhancers for MBL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J052771 Promoter 1.2 EPDnew 650.7 +1.2 1203 0.1 ELF3 FOXA2 MLX DMAP1 RARA ZNF614 EGR1 CREM THAP11 MIXL1 GC10M052757 MBL2
GH10J052772 Promoter/Enhancer 1 EPDnew ENCODE 650.7 +0.2 198 1.1 SP1 IRF2 TAF1 RXRA ERF HNF4A DMAP1 MBL2 GC10M052757
GH10J052774 Enhancer 0.9 ENCODE 660.2 -1.8 -1758 0.9 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 NFKBIZ RXRA SP5 MBL2 LOC105378306
GH10J052312 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.5 +455.8 455783 9.1 FOXA2 SIN3A FEZF1 ZNF2 YY1 ZNF143 FOS SP3 SP5 ZC3H11A DKK1 LOC105378305 MBL2 PRKG1-AS1 GC10P052330
GH10J052768 Enhancer 0.9 ENCODE 12.4 +4.3 4338 0.8 ELF3 FOXA2 THRB ZNF48 RARA YY1 ZNF614 CREM MIXL1 RXRA GC10M052757 MBL2 LOC105378305
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MBL2 gene promoter:
  • Chx10
  • Ik-2
  • STAT3
  • Ik-3
  • p53
  • HNF-4alpha2
  • HNF-4alpha1
  • deltaCREB
  • CREB
  • ARP-1

Genomic Locations for MBL2 Gene

Genomic Locations for MBL2 Gene
chr10:52,765,380-52,772,841
(GRCh38/hg38)
Size:
7,462 bases
Orientation:
Minus strand
chr10:54,525,140-54,531,460
(GRCh37/hg19)
Size:
6,321 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

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

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.
genes like me logo Genes that share domains with MBL2: view

Function for MBL2 Gene

Molecular function for MBL2 Gene

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.
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

Phenotypes From GWAS Catalog for MBL2 Gene

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 signaling 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:
  • Mbl2 Mbl2<tm1Kata>

Animal Model Products

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBL2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
mitochondrion 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MBL2 Gene

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:0002376 immune system process IEA --
GO:0006508 proteolysis IEA --
GO:0006953 acute-phase response TAS 2477488
GO:0006956 complement activation TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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.

Evidence on tissue expression from TISSUES for MBL2 Gene

  • Liver(4.7)
  • Bone marrow(4.1)
  • Blood(2.9)
  • Kidney(2)
genes like me logo Genes that share expression patterns with MBL2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for MBL2 Gene

Orthologs for MBL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MBL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBL2 34 33
  • 99.33 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MBL2 33
  • 76.65 (n)
MBL 34
  • 65 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbl2 16 34 33
  • 72.01 (n)
rat
(Rattus norvegicus)
Mammalia Mbl2 33
  • 71.57 (n)
oppossum
(Monodelphis domestica)
Mammalia MBL2 34
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MBL2 34
  • 51 (a)
OneToOne
chicken
(Gallus gallus)
Aves MBL2 34 33
  • 53.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBL2 34
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496214 33
  • 51.89 (n)
zebrafish
(Danio rerio)
Actinopterygii hbl4 34 33
  • 51.28 (n)
ManyToMany
hbl2 34
  • 34 (a)
ManyToMany
hbl3 34
  • 33 (a)
ManyToMany
hbl1 34
  • 33 (a)
ManyToMany
CR847898.1 34
  • 26 (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)
Aminode:
Evolutionary constrained regions (ECRs) for MBL2: view image

Paralogs for MBL2 Gene

Paralogs for MBL2 Gene

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

  • MBL2_HUMAN
  • B1PN75_HUMAN
  • Q5SQS3_HUMAN

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 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).

Sequence variations from dbSNP and Humsavar for MBL2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs10082466 likely-benign, Mannose-binding protein deficiency 52,766,862(-) A/G 3_prime_UTR_variant
rs10824792 likely-benign, Mannose-binding protein deficiency 52,766,446(-) C/T 3_prime_UTR_variant
rs11003121 uncertain-significance, Mannose-binding protein deficiency 52,767,003(-) G/A 3_prime_UTR_variant
rs114932753 uncertain-significance, Mannose-binding protein deficiency 52,765,435(-) C/T 3_prime_UTR_variant
rs115639140 uncertain-significance, Mannose-binding protein deficiency 52,767,001(-) T/C 3_prime_UTR_variant

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)

Additional Variant Information for MBL2 Gene

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

SNP Genotyping and Copy Number Assay Products

Disorders for MBL2 Gene

MalaCards: The human disease database

(49) MalaCards diseases for MBL2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
mannose-binding lectin deficiency
  • mbld
pulmonary tuberculosis
  • tuberculosis, pulmonary
vulvovaginal candidiasis
  • candidal vulvovaginitis
allergic bronchopulmonary aspergillosis
  • pulmonary aspergillus disease
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

Additional Disease Information for MBL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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. Association between mannose-binding lectin levels and gene polymorphisms in chronic periodontitis and response to treatment. (PMID: 20132924) Ozçaka O … Berdeli A (Archives of oral biology 2010) 3 22 44 58
  2. Association of variant alleles of MBL2 gene with vasoocclusive crisis in children with sickle cell anemia. (PMID: 20172753) Mendonça TF … Cavalcanti MS (Blood cells, molecules & diseases 2010) 3 22 44 58
  3. Use of a modeling framework to evaluate the effect of a modifier gene (MBL2) on variation in cystic fibrosis. (PMID: 20068595) McDougal KE … Cutting GR (European journal of human genetics : EJHG 2010) 3 22 44 58
  4. Influence of mannose-binding lectin genotypes and serostatus in allo-SCT: analysis of 131 recipients and donors. (PMID: 19430499) Neth OW … Zander AR (Bone marrow transplantation 2010) 3 22 44 58
  5. Genetic and structural analysis of MBL2 and MASP2 polymorphisms in south-eastern African children. (PMID: 19775369) Vallès X … Lozano F (Tissue antigens 2009) 3 22 44 58

Products for MBL2 Gene

Sources for MBL2 Gene

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