MBL2
| is a | gene |
| is | mentioned by |
| Full name | mannose-binding lectin (protein C) 2, soluble |
| EntrezGene | 4153 |
| PheGenI | 4153 |
| VariationViewer | 4153 |
| ClinVar | MBL2 |
| GeneCards | MBL2 |
| dbSNP | 4153 |
| Diseases | MBL2 |
| SADR | 4153 |
| HugeNav | 4153 |
| wikipedia | MBL2 |
| MBL2 | |
| gopubmed | MBL2 |
| EVS | MBL2 |
| HEFalMp | MBL2 |
| MyGene2 | MBL2 |
| 23andMe | MBL2 |
| UniProt | P11226 |
| Ensembl | ENSG00000165471 |
| OMIM | 154545 |
| # SNPs | 21 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs10824792 | 0 | 52,766,446 | |
| rs11003123 | 0 | 52,771,774 | |
| rs11003124 | 0 | 52,772,131 | |
| rs11003125 | 0 | 52,772,254 | |
| rs1800450 | 1.6 | 52,771,475 | |
| rs1800451 | 1.6 | 52,771,466 | |
| rs2099902 | 0 | 52,766,089 | |
| rs2099903 | 0 | 52,766,097 | |
| rs2120131 | 0 | 52,766,258 | |
| rs2120132 | 0 | 52,766,280 | |
| rs2165813 | 0 | 52,766,224 | |
| rs36014597 | 0 | 52,772,040 | |
| rs4935047 | 0 | 52,770,307 | |
| rs5030737 | 1.6 | 52,771,482 | |
| rs562962093 | 0 | 52,771,740 | |
| rs7084554 | 0 | 52,772,053 | |
| rs7095891 | 0 | 52,771,701 | |
| rs7096206 | 0 | 52,771,925 | |
| rs7100749 | 0 | 52,772,139 | |
| rs72661131 | 0 | 52,771,739 | |
| rs930509 | 0 | 52,768,593 |
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.
