Mannose-binding lectin deficiency

Gene Information

Names

HUGO name: MBL2

Alias(es):

  • COLEC1
  • MBL
  • MBP1
  • mannose-binding lectin (protein C) 2, soluble (opsonic defect)
  • Mannose-binding protein C precursor (MBP-C)
  • MBP1
  • Mannan-binding protein
  • Mannose-binding lectin

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Binds mannose and n-acetylglucosamine in a calcium-dependent manner. Is capable of host defense against pathogens, by activating the classical complement pathway independently of the antibody.

Subunit:

Oligomeric complex of 6 set of homotrimers.

Structures (PDB)

1HUP Human mannose-binding protein carbohydrate recognition domain trimerizes through a triple α-helical coiled-coil.

Domains

Cys-rich domain: 21-41

    Collagen-like domain: 42-99

      C-type lectin (short form) domain: 153-246

        Other features

        Signal peptide : 1-20

          Mannose-binding protein c: 21-248

            Disulfide bond : 155-244

              Disulfide bond : 222-236

                Other related resourses:

                Expression

                Expression pattern for human

                Tissue Expression (%) Clones
                corresponding non cancerous liver tissue 69.29 7:13955
                liver 18.80 5:36737
                hepatocellular carcinoma 9.66 1:14298
                pool, liver+spleen 2.24 1:61534