Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol MASP2 contributors: mlc - updated : 18-10-2007
HGNC name mannan-binding lectin serine protease 2
HGNC id 6902
Corresponding disease
MASP2 mannan-binding lectin serine protease 2 deficiency
Location 1p36.3-p36.2      Physical location : 11.086.580 - 11.107.285
Synonym symbol(s) sMAP, MAP19, MASP-2
DNA
TYPE functioning gene
STRUCTURE 2.00 kb     5 Exon(s)
Genomic sequence alignment details
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure conservation of two putative Stat binding sites, termed StatA and StatB ( Stat3 binding is important for MASP2 promoter activity )
MAPPING cloned Y linked   status provisional
Physical map
KIF1B 1p36.2 kinesin family member 1B LOC388593 1 LOC388593 PGD 1p36.31 phosphogluconate dehydrogenase CORT 1p36.3-p36.2 cortistatin DFFA 1p36.3-p36.2 DNA fragmentation factor, 45kDa, alpha polypeptide PEX14 1p36.3-p36.2 peroxisomal biogenesis factor 14 LOC163301 1p36.22 similar to BC035954 protein FLJ20321 1p36.22 hypothetical protein FLJ20321 FLJ37118 1p36.22 hypothetical protein FLJ37118 LOC390996 1 similar to Cofilin, non-muscle isoform TARDBP 1p36.22 TAR DNA binding protein AF311304 1p36.22 hypothetical protein AF311304 MASP2 1p36.3-p36.2 mannan-binding lectin serine protease 2 SRM 1p36-p22 spermidine synthase PMSCL2 1p36.22 polymyositis/scleroderma autoantigen 2, 100kDa FRAP1 1p36.3-p36.2 FK506 binding protein 12-rapamycin associated protein 1 CDT6 1p36.3-p36.2 angiopoietin-like factor TERE1 1p36 angiopoietin-like factor KIAA1337 1p36.21 KIAA1337 protein FBXO2 1p36.21 F-box only protein 2 FBX30 1p36.21 F-box protein FBX30 FBXO6 1p36.23-p36.11 F-box only protein 6 MAD2L2 1p36 MAD2 mitotic arrest deficient-like 2 (yeast) LOC374946 1p36.21 hypothetical gene supported by AK075558; BC021286 AGTRAP 1p36.21 angiotensin II receptor-associated protein DKFZp434E1410 1p36.21 hypothetical protein DKFZp434E1410
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- - 738 - 185 - Gregory (2004) Thiel (2007)
  • N-terminal CUB1-epidermal growth factor (EGF) segment of MASP-2, plus four additional residues at its C-terminal end
  • - - 2460 - 686 - Thiel (2007)
    EXPRESSION
    Type restricted
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver   highly
    Respiratoryrespiratory tractlarynx   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • short consensus repeats, sushi structure
  • N-terminal CUB domain, and the EGF-like domain
  • C-terminal sequence (EQSL) and lacks the serine protease catalytic domain
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION serine protease involved in the mannan-binding lectin pathway of complement activation
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component forms Ca(2+)-dependent complexes with mannan-binding lectin (MBL) and L-ficolin
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MASP2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in colorectal cancer, significantly correlated with recurrent cancer disease and with poor survival
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS