Gene: MBL2

Alternate names for this Gene: COLEC1|HSMBPC|MBL|MBL2D|MBP|MBP-C|MBP1|MBPD

Gene 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.1

Description of this Gene: mannose binding lectin 2

Type of Gene: protein-coding

rs1800451 in MBL2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs5030737 in MBL2 gene and Mannose-Binding Protein Deficiency PMID 22323042 2012 Defective activities, but not secretions, resulting from gene point mutations of human mannan-binding lectin.

PMID 7707811 1995 Mannose binding protein gene mutations associated with unusual and severe infections in adults.

PMID 8206524 1994 A new frequent allele is the missing link in the structural polymorphism of the human mannan-binding protein.

PMID 10071515 1999 Mannose-binding lectin (MBL) deficiency. Variant alleles in a midwestern population of the United States.