MASP2 wt Allele

Preferred Label : MASP2 wt Allele;

NCIt synonyms : MBL Associated Serine Protease 2 wt Allele; MBL-Associated Plasma Protein of 19 kD Gene; MASP1P1; Mannose-Binding Lectin Associated Protein 19 Gene; Mannan-Binding Lectin Serine Protease 1 Pseudogene 1 Gene; MASP-2; Small MBL-Associated Protein Gene; MAP-2; MAP19; sMAP; Mannan-Binding Lectin Serine Peptidase 1 Pseudogene 1 Gene;

NCIt definition : Human MASP2 wild-type allele is located in the vicinity of 1p36.22 and is approximately 21 kb in length. This allele, which encodes mannan-binding lectin serine protease 2 protein, is involved in antibody-independent activation of complement. Loss of function mutations in the gene are associated with defect in lectin complement activation pathway type 2 (MASP2 deficiency).;

NCI Metathesaurus CUI : CL1664905;

GenBank Accession Number : X98400;

Details

Origin ID

C181976;

UMLS CUI

C5551044;

Automatic exact mappings (from CISMeF team)
- Bromodomain-containing protein 8 [OMIM gene]
- Kinesin-associated protein 3 [OMIM gene]
- MBL associated serine protease 2 [ORDO Gene]
- Mannan-binding lectin serine protease 2 [OMIM gene]
OMIM relation
- Mannan-binding lectin serine protease 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
- Lectin Induced Complement Pathway [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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