MBL2 Chromosome 10
Mannose binding lectin 2
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What This Gene Does
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 and binds to mannose and N-acetylglucosamine on many microorganisms, including bacteria, yeast, and viruses including influenza virus, HIV and SARS-CoV. This binding activates the classical complement pathway. Deficiencies of this gene have been associated with susceptibility to autoimmune and infectious diseases. [provided by RefSeq, Jun 2020]
Gene Info
Gene Group
"Collectins|Complement system activation components"
Locus Type
gene with protein product
Location
10q21.1
Ensembl
ENSG00000165471
Associated Conditions (2)
Mannose-binding lectin deficiency
Cystic fibrosis
Key Variants
RS1800450
Conflicting classifications of pathogenicity
Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
Health Risk
RS34120190
Conflicting classifications of pathogenicity
Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
Health Risk
RS35327474
Conflicting classifications of pathogenicity
Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
Health Risk
RS35768126
Conflicting classifications of pathogenicity
Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
Health Risk
RS5030737
Conflicting classifications of pathogenicity
Mannose-binding lectin deficiency, Cystic fibrosis, Mannose-binding lectin deficiency
Health Risk
RS56325023
Conflicting classifications of pathogenicity
Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
Health Risk
RS74754826
Conflicting classifications of pathogenicity
Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
Health Risk
RS8191996
Conflicting classifications of pathogenicity
Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
Health Risk
RS886047053
Conflicting classifications of pathogenicity
Mannose-binding lectin deficiency, Mannose-binding lectin deficiency
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1800450 | Health Risk | Conflicting classifications of pathogenicity | Mannose-binding lectin deficiency, Mannose-binding lectin deficiency |
| RS34120190 | Health Risk | Conflicting classifications of pathogenicity | Mannose-binding lectin deficiency, Mannose-binding lectin deficiency |
| RS35327474 | Health Risk | Conflicting classifications of pathogenicity | Mannose-binding lectin deficiency, Mannose-binding lectin deficiency |
| RS35768126 | Health Risk | Conflicting classifications of pathogenicity | Mannose-binding lectin deficiency, Mannose-binding lectin deficiency |
| RS5030737 | Health Risk | Conflicting classifications of pathogenicity | Mannose-binding lectin deficiency, Cystic fibrosis, Mannose-binding lectin deficiency |
| RS56325023 | Health Risk | Conflicting classifications of pathogenicity | Mannose-binding lectin deficiency, Mannose-binding lectin deficiency |
| RS74754826 | Health Risk | Conflicting classifications of pathogenicity | Mannose-binding lectin deficiency, Mannose-binding lectin deficiency |
| RS8191996 | Health Risk | Conflicting classifications of pathogenicity | Mannose-binding lectin deficiency, Mannose-binding lectin deficiency |
| RS886047053 | Health Risk | Conflicting classifications of pathogenicity | Mannose-binding lectin deficiency, Mannose-binding lectin deficiency |