{{Rsnum
|rsid=1800450
|Gene=MBL2
|Chromosome=10
|position=52771475
|Orientation=minus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1212
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=MBL2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 1.8 | 26.5 | 71.7
| HCB | 2.2 | 22.1 | 75.7
| JPT | 2.7 | 27.4 | 69.9
| YRI | 0.0 | 2.0 | 98.0
| ASW | 0.0 | 7.0 | 93.0
| CHB | 2.2 | 22.1 | 75.7
| CHD | 1.8 | 25.7 | 72.5
| GIH | 5.0 | 21.8 | 73.3
| LWK | 0.0 | 4.5 | 95.5
| MEX | 0.0 | 31.0 | 69.0
| MKK | 0.6 | 6.4 | 92.9
| TSI | 2.9 | 23.5 | 73.5
| HapMapRevision=28
}}{{PMID|17898783}} pulmonary morbidity in preterm infants.

related to non-Hodgkin's lymphoma

{{omim
|desc=MANNOSE-BINDING PROTEIN DEFICIENCY
|id=154545
|rsnum=1800450
|variant=0001
}}

{{PMID Auto
|PMID=20522590
|Title=Functional Variants in MBL2 are Associated with Type 2 diabetes and Pre-diabetic Traits in Pima Indians and the Old Order Amish
|OA=1
}}

{{PMID Auto
|PMID=22340886
|Title=[Association between mannose-binding-lectin gene and type 2 diabetic patients in Chinese population living in the northern areas of China]
}}

{{PMID Auto
|PMID=22363494
|Title=Mannose-Binding Lectin 2 Polymorphisms Do Not Influence Frequency or Type of Infection in Adults with Chemotherapy Induced Neutropaenia
|OA=1
}}

{{ClinVar
|rsid=1800450
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=54531235
|CHROM=10
|GMAF=0.1218
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05016800000015051f110101
|GENEINFO=MBL2:4153
|GENE_NAME=MBL2
|GENE_ID=4153
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000010.10:g.54531235C>T
|CLNSRC=GTR; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=GTR000509360; 154545.0001
|CLNSIG=5
|CLNCUI=C1835140
|CLNDBN=Mannose-binding protein deficiency
|Disease=Mannose-binding protein deficiency
|CLNACC=RCV000015424.20
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8788; 0.1212
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1835140:614372
|COMMON=1
}}

{{PMID|17366837|OA=1
}} Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

{{PMID|18091754|OA=1
}} Regional association-based fine-mapping for sodium-lithium countertransport on chromosome 10.

{{PMID|18182569|OA=1
}} Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.

{{PMID|18396467|OA=1
}} Genetic variation and haplotype structures of innate immunity genes in eastern India.

{{PMID|18452612|OA=1
}} MBL2 and hepatitis C virus infection among injection drug users.

{{PMID|18936436|OA=1
}} Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

{{PMID|19366862|OA=1
}} Elevated MBL concentrations are not an indication of association between the MBL2 gene and type 1 diabetes or diabetic nephropathy.

{{PMID|19432958|OA=1
}} Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection.

{{PMID|20041166|OA=1
}} Common genetic variation and the control of HIV-1 in humans.

{{PMID|20042521|OA=1
}} Genotypes coding for low serum levels of mannose-binding lectin are underrepresented among individuals suffering from noninfectious systemic inflammatory response syndrome.

{{PMID|20196868|OA=1
}} Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis.

{{PMID|20465856|OA=1
}} Phylogenetic nomenclature and evolution of mannose-binding lectin (MBL2) haplotypes.

{{PMID|21211797}} Mannose binding lectin 2 haplotypes do not affect the progression of coronary atherosclerosis in men with proven coronary artery disease treated with pravastatin.

{{PMID|22183303}} The association between the mannose-binding lectin codon 54 polymorphism and systemic lupus erythematosus: a meta-analysis update.

{{PMID|22417159}} DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.

{{PMID Auto
|PMID=22994203
|Title=MBL2 gene variation affecting serum MBL is associated with prosthetic joint infection in Czech patients after total joint arthroplasty
}}

{{GET Evidence
|gene=MBL2
|aa_change=Gly54Asp
|aa_change_short=G54D
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs1800450
|overall_frequency_n=1118
|overall_frequency_d=10758
|overall_frequency=0.103923
|n_genomes=4
|n_genomes_annotated=0
|n_haplomes=4
|n_articles=3
|n_articles_annotated=3
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=5
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=2
|qualitycomment_severity=Y
|qualityscore_treatability=2
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.994
|genetests_testable=Y
|nblosum100=4
|max_or_disease_name=Mannose-Binding Lectin Deficiency
|max_or_case_pos=39
|max_or_case_neg=454
|max_or_control_pos=6
|max_or_control_neg=500
|max_or_or=7.159
|autoscore=4
|webscore=N
|n_web_uneval=8
|variant_evidence=0
|clinical_importance=1
|summary_short=This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C).
}}

{{PMID Auto
|PMID=22820623
|Title=Association of MIF-173G/C and MBL2 codon 54 gene polymorphisms with rheumatoid arthritis: a meta-analysis.
}}

{{PMID Auto
|PMID=22848725
|Title=Mannose-binding lectin deficiency is associated with myocardial infarction: the HUNT2 study in Norway.
|OA=1
}}

{{PMID Auto
|PMID=23251429
|Title=Inflammation and immune-related candidate gene associations with acute lung injury susceptibility and severity: a validation study.
|OA=1
}}

{{PMID Auto
|PMID=24952212
|Title=Age-dependent Association of Mannose-Binding Lectin Polymorphisms with the Development of Pulmonary Tuberculosis in Viet Nam
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | Illumina Human 1M}}