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FLASH GENE

Symbol

MASP2

contributors: mlc - updated : 18-10-2007

HGNC name	mannan-binding lectin serine protease 2
HGNC id	6902

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 2 or MAp19 - - 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 variant 1 - - 2460 - 686 - Thiel (2007)

EXPRESSION

Type	restricted

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver       highly Respiratory respiratory tract larynx

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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