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MASP2 mannan binding lectin serine peptidase 2 [ Homo sapiens (human) ]

Gene ID: 10747, updated on 8-May-2016
Official Symbol
MASP2provided by HGNC
Official Full Name
mannan binding lectin serine peptidase 2provided by HGNC
Primary source
HGNC:HGNC:6902
See related
Ensembl:ENSG00000009724 HPRD:05484; MIM:605102; Vega:OTTHUMG00000002121
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
sMAP; MAP19; MASP-2; MASP1P1
Summary
This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is proteolytically processed to generate A and B chains that heterodimerize to form the mature protease. This protease cleaves complement components C2 and C4 in order to generate C3 convertase in the lectin pathway of the complement system. The encoded protease also plays a role in the coagulation cascade through cleavage of prothrombin to form thrombin. Myocardial infarction and acute stroke patients exhibit reduced serum concentrations of the encoded protein. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
Orthologs
Location:
1p36.3-p36.2
Exon count:
12
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (11026523..11047239, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (11086580..11107296, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene cofilin 1 pseudogene 6 Neighboring gene TAR DNA binding protein Neighboring gene spermidine synthase Neighboring gene exosome component 10 Neighboring gene uncharacterized LOC105376736

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • Creation of C4 and C2 activators, organism-specific biosystem (from REACTOME)
    Creation of C4 and C2 activators, organism-specific biosystemTwo pathways lead to a complex capable of activating C4 and C2.The classical pathway is triggered by activation of the C1-complex, which consists of hexameric molecule C1q and a tetramer comprising t...
  • Ficolins bind to repetitive carbohydrate structures on the target cell surface, organism-specific biosystem (from REACTOME)
    Ficolins bind to repetitive carbohydrate structures on the target cell surface, organism-specific biosystemFicolins are recognition molecules in the lectin pathway of complement activation. Three types of ficolin have been identified in humans: M-ficolin (ficolin-1, FCN1), L-ficolin (ficolin-2, FCN2) and ...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Initial triggering of complement, organism-specific biosystem (from REACTOME)
    Initial triggering of complement, organism-specific biosystemComplement activation is due to a cascade of proteolytic steps, performed by serine protease domains in some of the components. Three different pathways of activation are distinguished triggered by t...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Lectin pathway of complement activation, organism-specific biosystem (from REACTOME)
    Lectin pathway of complement activation, organism-specific biosystemActivation of the lectin pathway (LP) is initiated by Mannose-binding lectin (MBL), the hetero-complex CL-LK formed from COLEC11 (Collectin liver 1, CL-L1) and COLEC10 (Collectin kidney 1, CL-K1), an...
  • Staphylococcus aureus infection, organism-specific biosystem (from KEGG)
    Staphylococcus aureus infection, organism-specific biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
  • Staphylococcus aureus infection, conserved biosystem (from KEGG)
    Staphylococcus aureus infection, conserved biosystemStaphylococcus aureus can cause multiple forms of infections ranging from superficial skin infections to food poisoning and life-threatening infections. The organism has several ways to divert the ef...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
calcium-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
complement component C4b binding IDA
Inferred from Direct Assay
more info
PubMed 
peptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
complement activation TAS
Traceable Author Statement
more info
 
complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
complement activation, lectin pathway IDA
Inferred from Direct Assay
more info
PubMed 
complement activation, lectin pathway TAS
Traceable Author Statement
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
Preferred Names
mannan-binding lectin serine protease 2
Names
MBL-associated plasma protein of 19 kD
MBL-associated serine protease 2
mannan-binding lectin serine peptidase 1 pseudogene 1
mannan-binding lectin serine peptidase 2
mannan-binding lectin serine protease 1 pseudogene 1
mannose-binding protein-associated serine protease 2
small MBL-associated protein
NP_006601.2
NP_631947.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007289.1 RefSeqGene

    Range
    4990..25706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006610.3NP_006601.2  mannan-binding lectin serine protease 2 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_006601.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the longer transcript and encodes isoform 1 which activates complement component 4.
    Source sequence(s)
    AK290823, Y09926
    Consensus CDS
    CCDS123.1
    UniProtKB/Swiss-Prot
    O00187
    Related
    ENSP00000383690, OTTHUMP00000002174, ENST00000400897, OTTHUMT00000006072
    Conserved Domains (5) summary
    cd00033
    Location:300361
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00020
    Location:444679
    Tryp_SPc; Trypsin-like serine protease
    cd00041
    Location:184295
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00054
    Location:138175
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00190
    Location:445682
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
  2. NM_139208.2NP_631947.1  mannan-binding lectin serine protease 2 isoform 2 precursor

    See identical proteins and their annotated locations for NP_631947.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also called MAp19, differs in the 3' UTR and 3' coding region compared to variant 1, resulting in a frameshift and upstream stop codon. Isoform 2 has a unique C-terminus and lacks the serine protease catalytic domain, compared to isoform 1.
    Source sequence(s)
    AB008047, DA638135, Y18281
    Consensus CDS
    CCDS124.1
    UniProtKB/Swiss-Prot
    O00187
    Related
    ENSP00000383691, OTTHUMP00000002175, ENST00000400898, OTTHUMT00000006073
    Conserved Domains (2) summary
    cd00041
    Location:11136
    CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
    cd00054
    Location:138175
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    11026523..11047239 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    11074241..11095206 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)