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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 be... See more...
Aliases for MBL2 Gene
Aliases for MBL2 Gene
External Ids for MBL2 Gene
- HGNC: 6922
- Entrez Gene: 4153
- Ensembl: ENSG00000165471
- OMIM: 154545
- UniProtKB: P11226
Previous HGNC Symbols for MBL2 Gene
- MBL
Previous GeneCards Identifiers for MBL2 Gene
- GC10M053372
- GC10M054417
- GC10M053869
- GC10M054195
- GC10M054525
- GC10M048503
Summaries 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 Cystic Fibrosis. Among its related pathways are Immune response Lectin induced complement pathway and Innate Immune System. Gene Ontology (GO) annotations related to this gene include calcium ion binding and calcium-dependent protein binding.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for MBL2 Gene
- HGNC(6922)
- Entrez Gene(4153)
- Ensembl(ENSG00000165471)
- OMIM(154545)
- UniProtKB(P11226)
- Open Targets Platform(ENSG00000165471)
- Monarch Initiative
- Search for MBL2 at DataMed
- Search for MBL2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBL2 Gene
Genomics for MBL2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for MBL2 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBL2
- Top Transcription factor binding sites by QIAGEN in the MBL2 gene promoter:
-
- ARP-1
- Chx10
- CREB
- deltaCREB
- HNF-4alpha1
- HNF-4alpha2
- Ik-2
- Ik-3
- p53
- STAT3
Genomic Locations for MBL2 Gene
Genomic Locations for MBL2 Gene
- chr10:52,765,380-52,772,784
- (GRCh38/hg38)
- Size:
- 7,405 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:
-
- 10q21.1 by HGNC
- 10q21.1 by Entrez Gene
- 10q21.1 by Ensembl
MBL2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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. Interacts with CR1 (via Sushi 24 and Sushi 25 domains).
Protein Expression for MBL2 Gene
Post-translational modifications for MBL2 Gene
Other Protein References for MBL2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ MBL2 Antibody
-
Custom Antibody ServicesOriGene Antibodies for MBL2
- Novus Biologicals Antibodies for MBL2
-
Abcam antibodies for MBL2
- Invitrogen Antibodies for MBL2 (AFLGC-MBL2)
-
Santa Cruz Biotechnology (SCBT) Antibodies for MBL2
- Sino Biological Antibodies for MBL2
Protein Products
- G Biosciences Human MBL-2/MBP-C, Lyophilized
- Search Origene for MassSpec and Protein Over-expression Lysates for MBL2
- Origene Custom Protein Services for MBL2
- Sino Biological Recombinant Proteins for MBL2
- Sino Biological Cell Lysates for MBL2
- ProSpec Recombinant Proteins for MBL2
-
Abcam proteins for MBL2
Assay Products
- G Biosciences Immunotag™ Mannose-binding protein C ELISA Kit
- RayBiotech Human MBL ELISA
- Novus Biologicals ELISA Kits for MBL2
- antibodies-online: Show 65 available MBL2 Elisa Kits ranked by validation data
- Compare Top MBL2 Elisa Kits
-
Quality Products:
- ABIN1115896
- ABIN2859302
- ABIN1873266
- ABIN1571154
- ABIN5525093
- ABIN6720207
- ABIN2684937
- ABIN5596306
- ABIN5668478
- ABIN5594939
- ABIN2859303
- ABIN5525094
- ABIN6719820
- ABIN2684938
- ABIN817832
- ABIN1571155
- ABIN6386154
- ABIN5656641
- ABIN4885612
- ABIN6574279
- ABIN431520
- ABIN5525095
- ABIN817833
- ABIN2851348
- ABIN579050
- ABIN2748323
- ABIN5656642
- ABIN6386155
- ABIN2536368
- ABIN1571153
- ABIN1563927
- ABIN5656638
- ABIN2536365
- ABIN6231230
- ABIN6231231
- ABIN2043925
-
Abcam assays for MBL2
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
Protein Domains for MBL2 Gene
- InterPro:
- Blocks:
-
- Collagen triple helix repeat
- Collagen helix repeat
- ProtoNet:
Suggested Antigen Peptide Sequences for MBL2 Gene
- GenScript: Design optimal peptide antigens:
-
- Mannose binding lectin (B1PN75_HUMAN)
- Mannose-binding lectin (MBL2_HUMAN)
- Mannose-binding protein C (Q5SQS3_HUMAN)
- Mannan-binding protein (Q9HCS8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P11226- Domain:
-
- The coiled-coil domain mediates trimerization.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005102 | signaling receptor binding | IPI | 11549596 |
| GO:0005515 | protein binding | IPI | 11485744 |
| GO:0005537 | mannose binding | TAS | 2477488 |
| GO:0030246 | carbohydrate binding | IEA | -- |
| GO:0048306 | calcium-dependent protein binding | IPI | 12421953 |
Phenotypes for MBL2 Gene
- MGI mutant phenotypes for MBL2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for MBL2:
-
- no effect
- Resistant to vaccinia virus (VACV-A4L) infection
- Strongly decreased CFP-tsO45G cell surface transport
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability
- Increased shRNA abundance (Z-score > 2)
- Decreased Dengue Infection
- Decreased infection with West Nile virus (WNV)
- Decreased West Nile virus (WNV) infection
- Synthetic lethal with vaccinia virus (VACV) infection
- Decreased vaccinia virus (VACV-LREV ) gene expression
- Decreased shRNA abundance (Z-score < -2)
Animal Models for MBL2 Gene
- MGI Knock Outs for MBL2:
-
- Mbl2 Mbl2<tm1Kata>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MBL2 - Select products 50% OFF >
- * MBL2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MBL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MBL2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MBL2
miRNA for MBL2 Gene
- miRTarBase miRNAs that target MBL2
-
- hsa-miR-3658 (MIRT528274)
- hsa-miR-3653-3p (MIRT528275)
- hsa-miR-6508-3p (MIRT528276)
- hsa-miR-4726-5p (MIRT528277)
- hsa-miR-4640-5p (MIRT528278)
- hsa-miR-4696 (MIRT528279)
- hsa-miR-1273f (MIRT528280)
- hsa-miR-3681-3p (MIRT528281)
- hsa-miR-216a-3p (MIRT528282)
- hsa-miR-128-3p (MIRT528283)
- hsa-miR-4311 (MIRT528284)
- hsa-miR-665 (MIRT618858)
- hsa-miR-6780a-5p (MIRT618859)
- hsa-miR-6779-5p (MIRT618860)
- hsa-miR-3689c (MIRT618861)
- hsa-miR-3689b-3p (MIRT618862)
- hsa-miR-3689a-3p (MIRT618863)
- hsa-miR-30b-3p (MIRT618864)
- hsa-miR-1273h-5p (MIRT618865)
- hsa-miR-6799-5p (MIRT618866)
- hsa-miR-6883-5p (MIRT618867)
- hsa-miR-6785-5p (MIRT618868)
- hsa-miR-4728-5p (MIRT618869)
- hsa-miR-149-3p (MIRT618870)
- hsa-miR-7106-5p (MIRT618871)
- hsa-miR-7160-5p (MIRT618872)
- hsa-miR-4722-5p (MIRT618873)
- hsa-miR-6884-5p (MIRT618874)
- hsa-miR-485-5p (MIRT618875)
- hsa-miR-1827 (MIRT618876)
- hsa-miR-4635 (MIRT618877)
- hsa-miR-3192-5p (MIRT618878)
- hsa-miR-4649-3p (MIRT618879)
- hsa-miR-4768-3p (MIRT618880)
- hsa-miR-4478 (MIRT618881)
- hsa-miR-4419b (MIRT618882)
- hsa-miR-3929 (MIRT618883)
- hsa-miR-940 (MIRT618884)
- hsa-miR-6893-5p (MIRT618885)
- hsa-miR-6808-5p (MIRT618886)
- hsa-miR-7851-3p (MIRT618887)
- hsa-miR-619-3p (MIRT618888)
- hsa-miR-1273c (MIRT783286)
- hsa-miR-129-5p (MIRT783531)
- hsa-miR-3117-5p (MIRT784557)
- hsa-miR-3683 (MIRT785229)
- hsa-miR-450a-5p (MIRT786049)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MBL2
- Browse OriGene Inhibitory RNA Products For MBL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBL2
Clone Products
- Applied Biological Materials (abm): Clones for MBL2 - Select products 50% OFF >
- * MBL2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MBL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MBL2
Cell Line Products
-
Horizon Cell Lines for MBL2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for MBL2 Gene
Localization for MBL2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MBL2 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| cytosol | 2 |
| lysosome | 2 |
| peroxisome | 1 |
| golgi apparatus | 1 |
| 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 |
| GO:0031012 | extracellular matrix | IBA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MBL2 Gene
Pathways & Interactions for MBL2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Creation of C4 and C2 activators | ||
| 2 | Immune response Lectin induced complement pathway |
Immune response Lectin induced complement pathway
.56
|
|
| 3 | Complement Pathway |
Complement Pathway
.62
|
Lectin Induced Complement Pathway
.01
|
| 4 | Innate Immune System |
.61
|
|
| 5 | Complement and coagulation cascades | ||
Pathways by source for MBL2 Gene
1 Sino Biological pathway for MBL2 Gene
1 BioSystems pathway for MBL2 Gene
6 Reactome pathways for MBL2 Gene
3 KEGG pathways for MBL2 Gene
1 GeneGo (Thomson Reuters) pathway for MBL2 Gene
- Immune response Lectin induced complement pathway
2 Qiagen pathways for MBL2 Gene
- Complement Pathway
- Lectin Induced Complement Pathway
Interacting Proteins for MBL2 Gene
Selected Interacting proteins:
P11226-MBL2_HUMAN
ENSP00000363079
for MBL2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MBL2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001867 | complement activation, lectin pathway | IDA,TAS | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0003429 | growth plate cartilage chondrocyte morphogenesis | IBA | -- |
| GO:0006953 | acute-phase response | TAS | 2477488 |
| GO:0006956 | complement activation | TAS | -- |
Drugs & Compounds for MBL2 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| 4-(Hydrogen sulfate)-beta-D-galactopyranose | Experimental | Pharma | Target | 0 | ||
| alpha-L-methyl-fucose | Experimental | Pharma | Target | 0 | ||
| Alpha-Methyl-N-Acetyl-D-Glucosamine | Experimental | Pharma | Target | 0 | ||
| Methyl alpha-D-mannoside | Experimental | Pharma | Target | 0 | ||
| Methyl beta-L-fucopyranoside | Experimental | Pharma | Target | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Transcripts for MBL2 Gene
mRNA/cDNA for MBL2 Gene
- 3 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000373968 3569 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MBL2 - Select products 50% OFF >
- * MBL2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MBL2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MBL2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MBL2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MBL2
- Browse OriGene Inhibitory RNA Products For MBL2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBL2
Clone Products
- Applied Biological Materials (abm): Clones for MBL2 - Select products 50% OFF >
- * MBL2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MBL2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MBL2
Relevant External Links for MBL2 Gene
- GeneLoc Exon Structure for
- MBL2
Expression for MBL2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Sertoli cells Seminiferous Tubules
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- NULL (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for MBL2 Gene
This gene is overexpressed in Liver (x52.7).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MBL2
SOURCE GeneReport for Unigene cluster for MBL2 Gene:
Hs.499674mRNA 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(4.8)
- Bone marrow(4.4)
- Blood(3.4)
- Spleen(2.9)
- Lymph node(2.8)
- Kidney(2.6)
- Nervous system(2.6)
- Heart(2.6)
- Lung(2.4)
- Intestine(2.3)
- Skin(2.3)
- Eye(2.2)
- Muscle(2.1)
Primer Products
-
OriGene qPCR primer pairs for MBL2
-
OriGene qPCR primer pairs and template standards for MBL2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MBL2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MBL2 30 |
|
||
| MBL 31 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | Mbl2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mbl2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | MBL2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | MBL2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MBL2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MBL2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100496214 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | hbl4 30 31 |
|
ManyToMany | |
| hbl2 31 |
|
ManyToMany | |||
| hbl3 31 |
|
ManyToMany | |||
| hbl1 31 |
|
ManyToMany | |||
| CR847898.1 31 |
|
ManyToMany |
- Species where no ortholog for MBL2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
(4) SIMAP similar genes for MBL2 Gene using alignment to 3 proteins:
- MBL2_HUMAN
- B1PN75_HUMAN
- Q5SQS3_HUMAN
Pseudogenes.org Pseudogenes for MBL2 Gene
No data available for Paralogs for MBL2 Gene
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBL2 Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 695181 | Likely Benign: not provided | 52,771,444(-) | C/T | INTRON_VARIANT | |
| 705158 | Likely Benign: not provided | 52,771,441(-) | A/G | INTRON_VARIANT | |
| 736719 | Conflicting Interpretations: Mannose-binding protein deficiency; not provided | 52,768,357(-) | T/C | MISSENSE_VARIANT | |
| 752623 | Likely Benign: not provided | 52,770,748(-) | A/G | SYNONYMOUS_VARIANT | |
| 877096 | Uncertain Significance: Mannose-binding protein deficiency | 52,765,386(-) | T/G | THREE_PRIME_UTR_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
Disorders for MBL2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mannose-binding lectin deficiency |
|
|
| cystic fibrosis |
|
|
| pulmonary tuberculosis |
|
|
| vulvovaginal candidiasis |
|
|
| rheumatic fever |
|
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
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot for MBL2 Gene
Publications for MBL2 Gene
- Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome. (PMID: 20042521) Smithson A … Nicolas JM (Clinical and vaccine immunology : CVI 2010) 3 23 41
- Genetically-defined deficiency of mannose-binding lectin is associated with protection after experimental stroke in mice and outcome in human stroke. (PMID: 20140243) Cervera A … Chamorro A (PloS one 2010) 3 23 41
- 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 23 41
- 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 23 41
- 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 23 41
ExternalLinks
Products for MBL2 Gene
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- antibodies-online: Show 53 available MBL2 Antibodies ranked by validation data
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- antibodies-online: Show 38 available MBL2 Proteins ranked by validation data
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Sources for MBL2 Gene
- (1) GeneCards
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