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MBL2

Synonyms
COLEC1, HSMBPC, MBL, MBL2D, MBP, MBP-C, MBP1, MBPD
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
1,017
Likely benign
5,989
Benign
1,324

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on MBL2 gene.

Phenotype class
Patients in 3billion (%)

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