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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
# SNPs15
 Max MagnitudeChromosome positionSummary
rs10824792052,766,446
rs1100312452,772,131
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
rs50307371.652,771,482
rs56296209352,771,740
rs7096206052,771,925
rs7100749052,772,139
rs7266113152,771,739

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.