Mannan-binding lectin - associated serine protease 2 deficiency

Gene Information

Names

HUGO name: MASP2

Alias(es):

  • MAP19
  • SMAP
  • MBL-associated plasma protein of 19 kD
  • Mannan-binding lectin serine protease 2
  • Mannose-binding protein-associated 2
  • Small MBL-associated protein
  • Mannan-binding lectin serine protease 2 precursor

Localization

Reference sequences

Chromosomal location

Maps

Protein Information

Description

Protein function:

Trypsin protease that presumably plays an important role in the initiation of the mannose-binding lectin (MBL) complement activation pathway. After activation it cleaves C4 generating C4a and C4b.

Subunit:

Isoform 2 binds to MASP-1.

Similarity:

Belongs to peptidase family S1.

Structures (PDB)

Domains

CUB 1 domain: 16-137

    EGF-like, calcium-binding domain: 138-181

      CUB 2 domain: 184-296

        Sushi 1 domain: 298-363

          Sushi 2 domain: 364-432

            Serine protease domain: 445-686

              Other features

              Signal peptide: 1-15

                Mannan-binding lectin serine protease 2: 16-686

                  Mannan-binding lectin serine protease 2 a chain: 16-444

                    Mannan-binding lectin serine protease 2 b chain: 445-686

                      Disulfide bond: 72-90

                        Disulfide bond: 142-156

                          Disulfide bond: 152-165

                            Disulfide bond: 167-180

                              Disulfide bond: 184-211

                                Disulfide bond: 241-259

                                  Disulfide bond: 300-348

                                    Disulfide bond: 328-361

                                      Disulfide bond: 366-412

                                        Disulfide bond: 396-430

                                          Disulfide bond interchain: 434-552

                                            Disulfide bond: 598-618

                                              Disulfide bond: 629-660

                                                Other related resourses:

                                                Expression

                                                Expression pattern for human

                                                Tissue Expression (%) Clones
                                                fetal pancreas 98.82 1:2
                                                hepatic adenoma 0.87 1:228
                                                hepatocellular carcinoma, cell line 0.12 8:13099
                                                optic nerve 0.04 1:4780
                                                embryonic stem cells 0.04 1:4803
                                                subchondral bone 0.03 1:5896
                                                carcinoid 0.02 5:48801
                                                primary lung epithelial cells 0.02 1:11269
                                                human lung epithelial cells 0.01 1:13464
                                                pooled human melanocyte, fetal heart, and pregnant uterus 0.01 1:32508

                                                Animal models

                                                Mouse