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MBL2

From SNPedia
is agene
is mentioned by
Full namemannose-binding lectin (protein C) 2, soluble
EntrezGene4153
PheGenI4153
VariationViewer4153
ClinVarMBL2
GeneCardsMBL2
dbSNP4153
DiseasesMBL2
SADR4153
HugeNav4153
wikipediaMBL2
googleMBL2
gopubmedMBL2
EVSMBL2
HEFalMpMBL2
MyGene2MBL2
23andMeMBL2
UniProtP11226
EnsemblENSG00000165471
OMIM154545
# SNPs21
 Max MagnitudeChromosome positionSummary
rs10824792052,766,446
rs11003123052,771,774
rs11003124052,772,131
rs1100312552,772,254
rs18004501.652,771,475
rs18004511.652,771,466
rs2099902052,766,089
rs2099903052,766,097
rs2120131052,766,258
rs2120132052,766,280
rs216581352,766,224
rs36014597052,772,040
rs4935047052,770,307
rs50307371.652,771,482
rs56296209352,771,740
rs7084554052,772,053
rs7095891052,771,701
rs7096206052,771,925
rs7100749052,772,139
rs7266113152,771,739
rs930509052,768,593

The MBL2 gene, located on chromosome 10, provides instructions for making a protein that assembles into a protein complex called mannose-binding lectin.GHR

Several common mutations (listed below) of the MBL2 gene can lead to a condition called mannose-binding lectin deficiency. People with this condition have low levels of mannose-binding lectin and may be susceptible to recurrent infections. Mannose-binding lectin deficiency is thought to affect approximately 5 to 10 percent of people worldwide; however, many affected individuals have no signs or symptoms related to low mannose-binding lectin levels. In addition, the mode of inheritance (dominant or recessive) is unclear. Therefore, this is not a Mendelian condition, and it is important to note that people (only) inherit an increased risk of developing mannose-binding lectin deficiency, and do not inherit the condition itself.GHR

The infectious conditions associated with MBL2 deficiency, discussed in detail in OMIM, may be summarized as follows:

  • HIV infection; perhaps 10 fold higher risk for homozygous (minor) compared to homozygous (major)
  • Meningococcal disease; about 4 fold higher risk for homozygotes
  • Tuberculosis; heterozygotes seems to have a lower risk than either homozygote
  • Lung infections in cystic fibrosis patients; generally worse in carriers of one or two MBL2 variant alleles
  • Vascular disease; about 4 fold higher risk for double minor homozygotes at the three major variants
  • Cardiovascular disease (arterial thrombosis) in systemic lupus erythematosus (SLE) patients; perhaps 7 fold higher risk


The three most common MBL2 gene variants studied are:

  • rs1800450, aka Gly54Asp, G54D or the "B" allele
  • rs1800451, aka Gly57Glu, G57E or the "C" allele
  • rs5030737, aka Arg52Cys, R52C or the "D" allele


The A allele refers to the wildtype alleles at these three SNPs; in papers about the MBL2 gene, generally the "O" allele refers to a haplotype consisting of one or more of the B, C and D alleles.

A variant in the promoter region known as c.-221G>C (rs7096206) has also been associated with MBL2 deficiency, together with or independently of the B/C/D variants.