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Masp2
Gene Detail
Symbol

Name
ID
Masp2
mannan-binding lectin serine peptidase 2
MGI:1330832
Synonyms
MAp19, MASP-2
Feature Type
protein coding gene
Genetic Map
Chromosome 4
78.76 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr4:148602554-148615499 bp, + strand
From VEGA annotation of GRCm38

  12946 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4819  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: MASP2
Protein SuperFamily: C1r-like complement-activating serine protease
Gene Tree: Masp2

Human
homologs
MASP2, mannan-binding lectin serine peptidase 2
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 10747
neXtProt AC: NX_O00187

Human Synonyms: MAP19, MASP1P1, MASP-2, sMAP

Human Chr (Location): 1p36.3-p36.2; chr1:11026523-11047239 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human MASP2

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(3) Targeted(3)
Genomic Mutations involving Masp2 (1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygous disruption of the exon encoding the small mannose-binding lectin (MBL)-associated protein results in a defective lectin-mediated complement pathway with a 20% reduction in the ability of serum components to cleave C3 and C4 in the presence of mannose.
 
Interactions
Masp2 interacts with 127 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (1 records)
Data Summary: Results (15)    Tissues (12)    Tissue x Stage Matrix (view)
Assay TypeResults
RT-PCR 15
cDNA source data(15)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase masp2 ; ZFIN masp2    NEW 
Molecular
reagents
All nucleic(17) cDNA(15) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000010952 (Evidence)
Ensembl Gene Model ENSMUSG00000028979 (Evidence)
Entrez Gene 17175 (Evidence)
NIA Mouse Gene Index U005089
EC 3.4.21.104
Consensus CDS Project CCDS18941.1, CCDS18942.1
International Mouse Phenotyping Consortium Status Masp2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010952 VEGA Gene Model | MGI Sequence Detail 12946 C57BL/6J ±  kb
transcript OTTMUST00000025689 VEGA | MGI Sequence Detail 3058 Not Applicable 
polypeptide OTTMUSP00000011778 VEGA | MGI Sequence Detail 685 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(11) UniProt(2)
Polymorphisms
PCR(1) : SNPs within 2kb(277 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000859 CUB domain
InterPro IPR001881 EGF-like calcium-binding
InterPro IPR018097 EGF-like calcium-binding, conserved site
InterPro IPR013032 EGF-like, conserved site
InterPro IPR000152 EGF-type aspartate/asparagine hydroxylation site
InterPro IPR001254 Peptidase S1
InterPro IPR001314 Peptidase S1A, chymotrypsin-type
InterPro IPR024175 Peptidase S1A, complement C1r/C1S/mannan-binding
InterPro IPR018114 Peptidase S1, trypsin family, active site
InterPro IPR000436 Sushi/SCR/CCP
InterPro IPR009003 Trypsin-like cysteine/serine peptidase domain
Protein Ontology PR:000010194 mannan-binding lectin serine protease 2
References
(Earliest) J:50500 Endo Y, et al., Two lineages of mannose-binding lectin-associated serine protease (MASP) in vertebrates. J Immunol. 1998 Nov 1;161(9):4924-30
(Latest) J:215201 Dib S, et al., Gene targeting of mouse Tardbp negatively affects Masp2 expression. PLoS One. 2014;9(4):e95373
All references(39)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory